A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Muscular Dystrophy, Animal: A group of genetic disorders causing progressive skeletal muscle weakness and degeneration, characterized by the lack of or defective dystrophin protein, which can also affect other organ systems such as heart and brain, occurring in various forms with different degrees of severity and age of onset, like Duchenne, Becker, Myotonic, Limb-Girdle, and Facioscapulohumeral types, among others.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
An autosomally-encoded 376-kDa cytoskeletal protein that is similar in structure and function to DYSTROPHIN. It is a ubiquitously-expressed protein that plays a role in anchoring the CYTOSKELETON to the PLASMA MEMBRANE.
A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.
Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
Identification of genetic carriers for a given trait.
Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain.
A group of proteins that associate with DYSTROPHIN at the CELL MEMBRANE to form the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.
The excitable plasma membrane of a muscle cell. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)
Two closely related polypeptides (molecular weight 7,000) isolated from the thymus gland. These hormones induce the differentiation of prothymocytes to thymocytes within the thymus. They also cause a delayed impairment of neuromuscular transmission in vivo and are therefore believed to be the agent responsible for myasthenia gravis.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins.
Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.
Contractile tissue that produces movement in animals.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Embryonic (precursor) cells of the myogenic lineage that develop from the MESODERM. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes (MYOCYTES, SKELETAL; MYOCYTES, CARDIAC; MYOCYTES, SMOOTH MUSCLE).
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
A macromolecular complex of proteins that includes DYSTROPHIN and DYSTROPHIN-ASSOCIATED PROTEINS. It plays a structural role in the linking the CYTOSKELETON to the EXTRACELLULAR MATRIX.
A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
A caveolin that is expressed exclusively in MUSCLE CELLS and is sufficient to form CAVEOLAE in SARCOLEMMA. Mutations in caveolin 3 are associated with multiple muscle diseases including DISTAL MYOPATHY and LIMB-GIRDLE MUSCULAR DYSTROPHY.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Large, noncollagenous glycoprotein with antigenic properties. It is localized in the basement membrane lamina lucida and functions to bind epithelial cells to the basement membrane. Evidence suggests that the protein plays a role in tumor invasion.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A subclass of developmentally regulated lamins having a neutral isoelectric point. They are found to disassociate from nuclear membranes during mitosis.
Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A poly(A) binding protein that is involved in promoting the extension of the poly A tails of MRNA. The protein requires a minimum of ten ADENOSINE nucleotides in order for binding to mRNA. Once bound it works in conjunction with CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR to stimulate the rate of poly A synthesis by POLY A POLYMERASE. Once poly-A tails reach around 250 nucleotides in length poly(A) binding protein II no longer stimulates POLYADENYLATION. Mutations within a GCG repeat region in the gene for poly(A) binding protein II have been shown to cause the disease MUSCULAR DYSTROPHY, OCULOPHARYNGEAL.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
The musculofibrous partition that separates the THORACIC CAVITY from the ABDOMINAL CAVITY. Contraction of the diaphragm increases the volume of the thoracic cavity aiding INHALATION.
The physiological renewal, repair, or replacement of tissue.
The amount of force generated by MUSCLE CONTRACTION. Muscle strength can be measured during isometric, isotonic, or isokinetic contraction, either manually or using a device such as a MUSCLE STRENGTH DYNAMOMETER.
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
Genes that influence the PHENOTYPE only in the homozygous state.
Developmental events leading to the formation of adult muscular system, which includes differentiation of the various types of muscle cell precursors, migration of myoblasts, activation of myogenesis and development of muscle anchorage.
Cysteine proteinase found in many tissues. Hydrolyzes a variety of endogenous proteins including NEUROPEPTIDES; CYTOSKELETAL PROTEINS; proteins from SMOOTH MUSCLE; CARDIAC MUSCLE; liver; platelets; and erythrocytes. Two subclasses having high and low calcium sensitivity are known. Removes Z-discs and M-lines from myofibrils. Activates phosphorylase kinase and cyclic nucleotide-independent protein kinase. This enzyme was formerly listed as EC 3.4.22.4.
An individual having different alleles at one or more loci regarding a specific character.
Unsaturated pregnane derivatives containing two keto groups on side chains or ring structures.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
A cytoskeletal linker protein with a molecular weight of greater than 500 kDa. It binds INTERMEDIATE FILAMENTS; MICROTUBULES; and ACTIN CYTOSKELETON and plays a central role in the organization and stability of the CYTOSKELETON. Plectin is phosphorylated by CALMODULIN KINASE; PROTEIN KINASE A; and PROTEIN KINASE C.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Elongated, spindle-shaped, quiescent myoblasts lying in close contact with adult skeletal muscle. They are thought to play a role in muscle repair and regeneration.
A growth differentiation factor that is a potent inhibitor of SKELETAL MUSCLE growth. It may play a role in the regulation of MYOGENESIS and in muscle maintenance during adulthood.
A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.
Synthetic analogs of NUCLEIC ACIDS composed of morpholine ring derivatives (MORPHOLINES) linked by phosphorodimidates. One standard DNA nucleic acid base (ADENINE; GUANINE; CYTOSINE; OR THYMINE) is bound to each morpholine ring.
Inflammation of a muscle or muscle tissue.
Biochemical identification of mutational changes in a nucleotide sequence.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Any method used for determining the location of and relative distances between genes on a chromosome.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
The magnitude of INBREEDING in humans.
A giant elastic protein of molecular mass ranging from 2,993 kDa (cardiac), 3,300 kDa (psoas), to 3,700 kDa (soleus) having a kinase domain. The amino- terminal is involved in a Z line binding, and the carboxy-terminal region is bound to the myosin filament with an overlap between the counter-connectin filaments at the M line.
A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Precursor cells destined to differentiate into skeletal myocytes (MYOCYTES, SKELETAL).
A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A characteristic symptom complex.
Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (MUSCLE FIBERS, SKELETAL), cardiac (MYOCYTES, CARDIAC), and smooth (MYOCYTES, SMOOTH MUSCLE). They are derived from embryonic (precursor) muscle cells called MYOBLASTS.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.
Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.
Actual loss of portion of a chromosome.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Recording of electric potentials in the retina after stimulation by light.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
The alpha subunits of integrin heterodimers (INTEGRINS), which mediate ligand specificity. There are approximately 18 different alpha chains, exhibiting great sequence diversity; several chains are also spliced into alternative isoforms. They possess a long extracellular portion (1200 amino acids) containing a MIDAS (metal ion-dependent adhesion site) motif, and seven 60-amino acid tandem repeats, the last 4 of which form EF HAND MOTIFS. The intracellular portion is short with the exception of INTEGRIN ALPHA4.
An azo dye used in blood volume and cardiac output measurement by the dye dilution method. It is very soluble, strongly bound to plasma albumin, and disappears very slowly.
An enzyme that catalyzes the formation of glycerol 3-phosphate from ATP and glycerol. Dihydroxyacetone and L-glyceraldehyde can also act as acceptors; UTP and, in the case of the yeast enzyme, ITP and GTP can act as donors. It provides a way for glycerol derived from fats or glycerides to enter the glycolytic pathway. EC 2.7.1.30.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Nuclear matrix proteins that are structural components of the NUCLEAR LAMINA. They are found in most multicellular organisms.
A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
Glycoproteins found on the membrane or surface of cells.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury.
A CALCIUM-dependent, constitutively-expressed form of nitric oxide synthase found primarily in NERVE TISSUE.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Short fragments of RNA that are used to alter the function of target RNAs or DNAs to which they hybridize.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
Short fragments of DNA or RNA that are used to alter the function of target RNAs or DNAs to which they hybridize.
The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow.
Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
An individual in which both alleles at a given locus are identical.
The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
An isoenzyme of creatine kinase found in the MUSCLE.
Enzymes that catalyze the transfer of mannose from a nucleoside diphosphate mannose to an acceptor molecule which is frequently another carbohydrate. The group includes EC 2.4.1.32, EC 2.4.1.48, EC 2.4.1.54, and EC 2.4.1.57.
Muscles of facial expression or mimetic muscles that include the numerous muscles supplied by the facial nerve that are attached to and move the skin of the face. (From Stedman, 25th ed)
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
Enzymes that catalyze the transfer of N-acetylglucosamine from a nucleoside diphosphate N-acetylglucosamine to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A poly(A) binding protein that has a variety of functions such as mRNA stabilization and protection of RNA from nuclease activity. Although poly(A) binding protein I is considered a major cytoplasmic RNA-binding protein it is also found in the CELL NUCLEUS and may be involved in transport of mRNP particles.
Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.
Forceful administration into a muscle of liquid medication, nutrient, or other fluid through a hollow needle piercing the muscle and any tissue covering it.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Compounds based on a 7-membered heterocyclic ring including an oxygen. They can be considered a medium ring ether. A natural source is the MONTANOA plant genus. Some dibenzo-dioxepins, called depsidones, are found in GARCINIA plants.
The three possible sequences of CODONS by which GENETIC TRANSLATION may occur from one nucleotide sequence. A segment of mRNA 5'AUCCGA3' could be translated as 5'AUC.. or 5'UCC.. or 5'CCG.., depending on the location of the START CODON.
Mice bearing mutant genes which are phenotypically expressed in the animals.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
The synapse between a neuron and a muscle.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Part of the body in humans and primates where the arms connect to the trunk. The shoulder has five joints; ACROMIOCLAVICULAR joint, CORACOCLAVICULAR joint, GLENOHUMERAL joint, scapulathoracic joint, and STERNOCLAVICULAR joint.
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
The membrane system of the CELL NUCLEUS that surrounds the nucleoplasm. It consists of two concentric membranes separated by the perinuclear space. The structures of the envelope where it opens to the cytoplasm are called the nuclear pores (NUCLEAR PORE).
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The introduction of functional (usually cloned) GENES into cells. A variety of techniques and naturally occurring processes are used for the gene transfer such as cell hybridization, LIPOSOMES or microcell-mediated gene transfer, ELECTROPORATION, chromosome-mediated gene transfer, TRANSFECTION, and GENETIC TRANSDUCTION. Gene transfer may result in genetically transformed cells and individual organisms.
Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.
One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4). It recognizes and cleaves the sequence A/AGCTT at the slash. HindIII is from Haemophilus influenzae R(d). Numerous isoschizomers have been identified. EC 3.1.21.-.
Techniques to reveal personality attributes by responses to relatively unstructured or ambiguous stimuli.
These include the muscles of the DIAPHRAGM and the INTERCOSTAL MUSCLES.
Tricyclic anorexigenic agent unrelated to and less toxic than AMPHETAMINE, but with some similar side effects. It inhibits uptake of catecholamines and blocks the binding of cocaine to the dopamine uptake transporter.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The main structural proteins of CAVEOLAE. Several distinct genes for caveolins have been identified.
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A myogenic regulatory factor that controls myogenesis. Though it is not clear how its function differs from the other myogenic regulatory factors, MyoD appears to be related to fusion and terminal differentiation of the muscle cell.
A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the processing of some, but not all, transcripts of the gene. Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. The alternative forms of mature MESSENGER RNA produce PROTEIN ISOFORMS in which one part of the isoforms is common while the other parts are different.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
An individual intelligence test designed primarily for school children to predict school performance and the ability to adjust to everyday demands.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Agents that have a damaging effect on the HEART. Such damage can occur from ALKYLATING AGENTS; FREE RADICALS; or metabolites from OXIDATIVE STRESS and in some cases is countered by CARDIOTONIC AGENTS. Induction of LONG QT SYNDROME or TORSADES DE POINTES has been the reason for viewing some drugs as cardiotoxins.
Compounds that specifically inhibit PHOSPHODIESTERASE 5.
The intentional interruption of transmission at the NEUROMUSCULAR JUNCTION by external agents, usually neuromuscular blocking agents. It is distinguished from NERVE BLOCK in which nerve conduction (NEURAL CONDUCTION) is interrupted rather than neuromuscular transmission. Neuromuscular blockade is commonly used to produce MUSCLE RELAXATION as an adjunct to anesthesia during surgery and other medical procedures. It is also often used as an experimental manipulation in basic research. It is not strictly speaking anesthesia but is grouped here with anesthetic techniques. The failure of neuromuscular transmission as a result of pathological processes is not included here.
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
Established cell cultures that have the potential to propagate indefinitely.
The pathological process occurring in cells that are dying from irreparable injuries. It is caused by the progressive, uncontrolled action of degradative ENZYMES, leading to MITOCHONDRIAL SWELLING, nuclear flocculation, and cell lysis. It is distinct it from APOPTOSIS, which is a normal, regulated cellular process.

Enhanced expression of recombinant dystrophin following intramuscular injection of Epstein-Barr virus (EBV)-based mini-chromosome vectors in mdx mice. (1/886)

Gene transfer by direct intramuscular injection of naked plasmid DNA has been shown to be a safe, simple but relatively inefficient method for gene delivery in vivo. Eukaryotic plasmid expression vectors incorporating the Epstein-Barr virus (EBV) origin of replication (oriP) and EBNA1 gene have been shown to act as autonomous episomally replicating gene transfer vectors which additionally provide nuclear matrix retention functions. Prolonged expression of a LacZ reporter gene and recombinant human dystrophin was shown using EBV-based plasmid vectors transfected into C2C12 mouse myoblast and myotube cultures. Intramuscular injection of EBV-based dystrophin expression plasmids into nude/mdx mice resulted in significant enhancement in the number of muscle fibres expressing recombinant dystrophin compared with a conventional vector. This effect was observed for over 10 weeks after a single administration. These results indicate the potential advantage of EBV-based expression vectors for focal plasmid-mediated gene augmentation therapy in Duchenne muscular dystrophy (DMD) and a range of other gene therapeutic applications.  (+info)

Local and distant transfection of mdx muscle fibers with dystrophin and LacZ genes delivered in vivo by synthetic microspheres. (2/886)

Patterns of dystrophin and beta-galactosidase expression were examined in mdx mice after i.m. injections of synthetic microspheres (MF-2) loaded with full-length (pHSADy) or mini-dystrophin gene (pSG5dys) cDNA plasmid constructs or with LacZ marker gene (pCMV-LacZ). A single injection of 25 microg pHSADy into quadriceps femoris muscle resulted in 6.8% of dystrophin positive myofibers (DPM) in a given muscle; 8.4% of DPM in glutaeus muscle and 4.3% of DPM in quadriceps femoris muscle of contralateral limb on day 21 after exposure compared with only 0.6% DPM in intact (non-injected) mdx mice. A high proportion of DPM (17.6% and 10.8%, respectively) was registered in both injected and contralateral muscles after mini- gene cDNA administration. MF-2/dystrophin cDNA particles were detected by FISH analysis in about 60-70% of myofiber nuclei in muscles of injected and contralateral limbs 7 days after application. The presence of human dystrophin cDNA and its products in all skeletal muscles and in different internal organs was proven by PCR and RT-PCR analysis. Patches of beta-galactosidase expression were abundant in injected muscle, and frequent in the contralateral and other skeletal muscles as well as in diaphragm, heart and lungs. High levels of dystrophin cDNA expression, and an efficient distant transfection effect with preferential intranuclei inclusion of MF-2 vehicle, are very encouraging for the development of a new constructive strategy in gene therapy trials of DMD.  (+info)

Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients. (3/886)

Duchenne muscular dystrophy (DMD), with an incidence of one in 3500 male new borns, and its milder variant, Becker muscular dystrophy (BMD), are allelic X-linked recessive disorders, caused by mutations in the gene coding for dystrophin, a 427 kD cytoskeleton protein. There are no available molecular markers to differentiate these two. The purpose of this study was to study genetic polymorphism in muscular dystrophy and explore its potential in discriminating these two allelic forms of the disease. The results revealed unambiguously the presence of three transcripts : 598bp, 849bp and 1583bp long which are selectively expressed in the muscles afflicted with muscular dystrophy as compared to the normal muscle. 1583bp gene transcript was conspicuously present in the muscle tissues of both DMD and BMD patients whereas 598bp and 849bp long transcripts were exclusively present in DMD but not in BMD patients or normal human subjects. These gene transcripts had no sequence homology with dystrophin gene and these were also present in the families belonging to DMD and BMD patients. These results point to the fact that based upon the selective expression of these three gene transcripts, one could not only differentiate between DMD and BMD diseases at the molecular level, but also between normal and dystrophic muscle. Further, these findings also reveal that apart from dystrophin gene, these gene transcripts may also be responsible for the differential progression of DMD/BMD phenotype.  (+info)

Phosphorylation of dystrophin and alpha-syntrophin by Ca(2+)-calmodulin dependent protein kinase II. (4/886)

A Ca(2+)-calmodulin dependent protein kinase activity (DGC-PK) was previously shown to associate with skeletal muscle dystrophin glycoprotein complex (DGC) preparations, and phosphorylate dystrophin and a protein with the same electrophoretic mobility as alpha-syntrophin (R. Madhavan, H.W. Jarrett, Biochemistry 33 (1994) 5797-5804). Here, we show that DGC-PK and Ca(2+)-calmodulin dependent protein kinase II (CaM kinase II) phosphorylate a common site (RSDS(3616)) within the dystrophin C terminal domain that fits the consensus CaM kinase II phosphorylation motif (R/KXXS/T). Furthermore, both kinase activities phosphorylate exactly the same three fusion proteins (dystrophin fusions DysS7 and DysS9, and the syntrophin fusion) out of a panel of eight fusion proteins (representing nearly 100% of syntrophin and 80% of dystrophin protein sequences), demonstrating that DGC-PK and CaM kinase II have the same substrate specificity. Complementing these results, anti-CaM kinase II antibodies specifically stained purified DGC immobilized on nitrocellulose membranes. Renaturation of electrophoretically resolved DGC proteins revealed a single protein kinase band (M(r) approximately 60,000) that, like CaM kinase II, underwent Ca(2+)-calmodulin dependent autophosphorylation. Based on these observations, we conclude DGC-PK represents a dystrophin-/syntrophin-phosphorylating skeletal muscle isoform of CaM kinase II. We also show that phosphorylation of the dystrophin C terminal domain sequences inhibits their syntrophin binding in vitro, suggesting a regulatory role for phosphorylation.  (+info)

Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells. (5/886)

We have developed five conventional duplex polymerase chain reaction (PCR) protocols on single lymphocytes and blastomeres from embryos, in order to analyse five exons commonly deleted in deletion-type Duchenne muscular dystrophy (DMD). The five DMD gene exons (17, 19, 44, 45 and 48) can be analysed in separate duplex PCR reactions together with the sex-determining region Y (SRY) gene which enables simultaneous gender assignment. We present here PCR amplification results from single lymphocytes isolated from a normal male (220 cells), a normal female (24 cells) and a male DMD patient (40 cells) carrying a deletion of exons 46-49 within the DMD gene. The method failed to produce a PCR signal for the SRY gene in 8/220 normal male cells (3.6%) and for a DMD exon in 0-4.5% of normal male cells. One negative control out of 112 was positive. When this method was used to analyse two blastomeres from each of five embryos, concordant results were obtained for each pair of blastomeres. All embryos produced signals for the DMD exon tested with four of the embryos found to be male and one female. This method is therefore suitable for preimplantation genetic diagnosis and will allow the transfer of healthy embryos (both male and female) in families carrying DMD gene deletions involving at least one of the five exons 17, 19, 44, 45 and 48.  (+info)

Different dystrophin-like complexes are expressed in neurons and glia. (6/886)

Duchenne muscular dystrophy is a fatal muscle disease that is often associated with cognitive impairment. Accordingly, dystrophin is found at the muscle sarcolemma and at postsynaptic sites in neurons. In muscle, dystrophin forms part of a membrane-spanning complex, the dystrophin-associated protein complex (DPC). Whereas the composition of the DPC in muscle is well documented, the existence of a similar complex in brain remains largely unknown. To determine the composition of DPC-like complexes in brain, we have examined the molecular associations and distribution of the dystrobrevins, a widely expressed family of dystrophin-associated proteins, some of which are components of the muscle DPC. beta-Dystrobrevin is found in neurons and is highly enriched in postsynaptic densities (PSDs). Furthermore, beta-dystrobrevin forms a specific complex with dystrophin and syntrophin. By contrast, alpha-dystrobrevin-1 is found in perivascular astrocytes and Bergmann glia, and is not PSD-enriched. alpha-Dystrobrevin-1 is associated with Dp71, utrophin, and syntrophin. In the brains of mice that lack dystrophin and Dp71, the dystrobrevin-syntrophin complexes are still formed, whereas in dystrophin-deficient muscle, the assembly of the DPC is disrupted. Thus, despite the similarity in primary sequence, alpha- and beta-dystrobrevin are differentially distributed in the brain where they form separate DPC-like complexes.  (+info)

A second promoter provides an alternative target for therapeutic up-regulation of utrophin in Duchenne muscular dystrophy. (7/886)

Duchenne muscular dystrophy (DMD) is an inherited muscle-wasting disease caused by the absence of a muscle cytoskeletal protein, dystrophin. We have previously shown that utrophin, the autosomal homologue of dystrophin, is able to compensate for the absence of dystrophin in a mouse model of DMD; we have therefore undertaken a detailed study of the transcriptional regulation of utrophin to identify means of effecting its up-regulation in DMD muscle. We have previously isolated a promoter element lying within the CpG island at the 5' end of the gene and have shown it to be synaptically regulated in vivo. In this paper, we show that there is an alternative promoter lying within the large second intron of the utrophin gene, 50 kb 3' to exon 2. The promoter is highly regulated and drives transcription of a widely expressed unique first exon that splices into a common full-length mRNA at exon 3. The two utrophin promoters are independently regulated, and we predict that they respond to discrete sets of cellular signals. These findings significantly contribute to understanding the molecular physiology of utrophin expression and are important because the promoter reported here provides an alternative target for transcriptional activation of utrophin in DMD muscle. This promoter does not contain synaptic regulatory elements and might, therefore, be a more suitable target for pharmacological manipulation than the previously described promoter.  (+info)

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). (8/886)

Small mutations are the cause of the disease in one third of cases of Duchenne and Becker muscular dystrophy (DMD/BMD). The identification of point mutations in the dystrophin gene is considered to be very important, because it may provide new insights into the function of dystrophin and direct information for genetic counselling. In this study, we have screened 18 deletion-prone exons (25.5% of the coding region) of the dystrophin gene by using a modified non-isotopic multiplex single-stranded conformation analysis (SSCA). Mutations responsible for the disease phenotype could be identified in five out of 56 unrelated DMD/BMD patients without detectable deletions. Two of these mutations, 980-981delCC and 719G > C, are novel mutations which have not been described previously. Four of the five mutations, including 980-981delCC detected in this study are found to be nonsense or frameshift mutations leading to the synthesis of a truncated dystrophin protein. The missense mutation, 719G > C, causing the substitution of highly conserved alanine residue at 171 with proline in the actin binding domain of the dystrophin, is associated with a BMD phenotype. This study also revealed the presence of six polymorphisms in Turkish DMD/BMD patients.  (+info)

Muscular dystrophies are a group of genetic disorders that primarily affect skeletal muscles, causing progressive weakness and degeneration. They are characterized by the lack or deficiency of a protein called dystrophin, which is essential for maintaining the integrity of muscle fibers. The most common form is Duchenne muscular dystrophy (DMD), but there are many other types with varying symptoms and severity. Over time, muscle wasting and weakness can lead to disability and shortened lifespan, depending on the type and progression of the disease. Treatment typically focuses on managing symptoms, maintaining mobility, and supporting quality of life.

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness and degeneration. It is caused by the absence of dystrophin, a protein that helps keep muscle cells intact. Without dystrophin, the muscle cells break down and are replaced with scar tissue, leading to loss of muscle function over time.

DMD primarily affects boys, as it is inherited in an X-linked recessive pattern, meaning that females who carry one affected X chromosome typically do not show symptoms but can pass the gene on to their offspring. Symptoms usually begin in early childhood and include difficulty with motor skills such as walking, running, and climbing stairs. Over time, the muscle weakness progresses and can lead to loss of ambulation, respiratory and cardiac complications, and ultimately, premature death.

Currently, there is no cure for DMD, but various treatments such as corticosteroids, physical therapy, and assisted ventilation can help manage symptoms and improve quality of life. Gene therapy approaches are also being investigated as potential treatments for this disorder.

I'm sorry for any confusion, but "Muscular Dystrophy, Animal" is not a standard medical term. Muscular Dystrophy is a group of genetic disorders that cause progressive weakness and loss of muscle mass. They are primarily human diseases and there are no known animal models of muscular dystrophy that directly correspond to any type of muscular dystrophy in humans.

However, scientists often use animals (like mice, dogs, and cats) as models for human diseases, including various types of muscular dystrophies. These animal models are used to study the disease process and to test potential treatments. For example, the mdx mouse is a well-known model of Duchenne Muscular Dystrophy (DMD), which is caused by a mutation in the dystrophin gene. This mouse lacks the muscle protein dystrophin, similar to humans with DMD, and shows many of the same symptoms, making it a valuable tool for research.

Dystrophin is a protein that provides structural stability to muscle fibers. It is an essential component of the dystrophin-glycoprotein complex, which helps maintain the integrity of the sarcolemma (the membrane surrounding muscle cells) during muscle contraction and relaxation. Dystrophin plays a crucial role in connecting the cytoskeleton of the muscle fiber to the extracellular matrix, allowing for force transmission and protecting the muscle cell from damage.

Mutations in the DMD gene, which encodes dystrophin, can lead to various forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD, a severe form of the disease, genetic alterations typically result in little or no production of functional dystrophin, causing progressive muscle weakness, wasting, and degeneration. In BMD, a milder form of the disorder, partially functional dystrophin is produced, leading to less severe symptoms and later onset of the disease.

'Mice, Inbred mdx' is a genetic strain of laboratory mice that are widely used as a model to study Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting disorder in humans. The 'mdx' designation refers to the specific genetic mutation present in these mice, which is a point mutation in the gene encoding for dystrophin, a crucial protein involved in maintaining the structural integrity of muscle fibers.

Inbred mdx mice carry a spontaneous mutation in exon 23 of the dystrophin gene, resulting in the production of a truncated and nonfunctional form of the protein. This leads to a phenotype that closely resembles DMD in humans, including muscle weakness, degeneration, and fibrosis. The inbred nature of these mice ensures consistent genetic backgrounds and disease manifestations, making them valuable tools for studying the pathophysiology of DMD and testing potential therapies.

It is important to note that while the inbred mdx mouse model has been instrumental in advancing our understanding of DMD, it does not fully recapitulate all aspects of the human disease. Therefore, findings from these mice should be carefully interpreted and validated in more complex models or human studies before translating them into clinical applications.

Limb-girdle muscular dystrophy (LGMD) is a group of rare inherited disorders that cause progressive weakness and wasting of the muscles in the arms and legs, particularly those around the shoulders and hips (the limb-girdle region). The condition affects both males and females and presents at different ages, depending on the specific type of LGMD.

LGMD is caused by mutations in various genes that play a role in maintaining muscle integrity and function. These genetic defects lead to a deficiency or dysfunction of certain proteins necessary for muscle health, ultimately resulting in muscle degeneration and weakness. There are more than 30 different subtypes of LGMD, each with its own set of causative genes and inheritance patterns (autosomal dominant or autosomal recessive).

Symptoms of limb-girdle muscular dystrophy may include:

1. Progressive muscle weakness and wasting in the arms, legs, shoulders, and hips
2. Difficulty with activities such as climbing stairs, lifting objects, or getting up from a seated position
3. Enlarged calf muscles (pseudohypertrophy) due to muscle degeneration and fat replacement
4. Muscle contractures, joint stiffness, and limited range of motion
5. Difficulty walking, using wheelchair assistance in advanced stages
6. Respiratory complications due to weakened chest muscles in some cases

Diagnosis of LGMD typically involves a combination of clinical evaluation, family history, muscle biopsy, genetic testing, and blood tests for creatine kinase (CK) levels, which are often elevated in muscular dystrophies. Treatment is primarily supportive and focuses on maintaining mobility, preventing complications, and preserving quality of life through physical therapy, assistive devices, and orthopedic interventions as needed. No cure currently exists for limb-girdle muscular dystrophy, but ongoing research aims to develop targeted therapies based on the underlying genetic defects.

Myotonic dystrophy is a genetic disorder characterized by progressive muscle weakness, myotonia (delayed relaxation of muscles after contraction), and other symptoms. It is caused by an expansion of repetitive DNA sequences in the DMPK gene on chromosome 19 (type 1) or the ZNF9 gene on chromosome 3 (type 2). These expansions result in abnormal protein production and accumulation, which disrupt muscle function and can also affect other organs such as the heart, eyes, and endocrine system. Myotonic dystrophy is a progressive disease, meaning that symptoms tend to worsen over time. It is typically divided into two types: myotonic dystrophy type 1 (DM1), which is more common and severe, and myotonic dystrophy type 2 (DM2), which tends to be milder with a later onset of symptoms.

Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic muscle disorder characterized by the progressive weakness and wasting (atrophy) of muscles in the face, shoulders, arms, and legs. It is caused by the abnormal expression of a gene called DUX4, which is normally only active during early embryonic development. In FSHD, this gene becomes reactivated in muscle cells, leading to their degeneration and death.

The symptoms of FSHD typically begin in late childhood or adolescence, although they can also appear in adulthood. The first noticeable sign is often difficulty raising the arms above the head or a weakened grip. Over time, the muscles of the face may become affected, leading to problems with smiling, swallowing, and speaking. The muscle weakness in FSHD tends to progress slowly, but it can vary widely from person to person. Some people with FSHD may require wheelchair assistance, while others may continue to walk with only minor limitations.

FSHD is inherited in an autosomal dominant manner, which means that a child has a 50% chance of inheriting the disease-causing gene from an affected parent. However, about 30% of cases are the result of new mutations and occur in people with no family history of the disorder. Currently, there is no cure for FSHD, but various treatments can help manage its symptoms and improve quality of life. These may include physical therapy, orthotics, assistive devices, and medications to treat pain or other complications.

Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disorder characterized by the triad of 1) early contractures of the elbow and Achilles tendons, 2) slowly progressive muscle weakness and wasting, which begins in the muscles around the shoulder and pelvis and later involves the arms and legs, and 3) cardiac conduction defects that can lead to serious heart rhythm abnormalities.

EDMD is caused by mutations in one of several genes, including the EMD, LMNA, FHL1, and SYNE1/2 genes. These genes provide instructions for making proteins that are important for maintaining the structure and function of muscle cells, as well as the electrical activity of the heart.

The symptoms of EDMD can vary in severity and age of onset, even among family members with the same genetic mutation. Treatment typically focuses on managing the symptoms of the disease, including physical therapy to maintain mobility, bracing or surgery for contractures, and medications to manage cardiac arrhythmias. In some cases, a heart transplant may be necessary.

Utrophin is a protein that is found in muscle cells. It is similar in structure and function to dystrophin, which is a protein that is deficient or abnormal in people with Duchenne and Becker muscular dystrophy. Utrophin is present in both fetal and adult muscle, but its expression is usually limited to the nerve endings of the muscle fibers. However, in certain conditions such as muscle injury or disease, utrophin can be upregulated and expressed more widely throughout the muscle fiber. Research has shown that increasing the levels of utrophin in muscle cells could potentially compensate for the lack of dystrophin and provide a therapeutic approach to treating muscular dystrophy.

Sarcoglycans are a group of proteins that are part of the dystrophin-glycoprotein complex in muscle cells. This complex helps to maintain the structural integrity of the muscle fiber by forming a link between the cytoskeleton and the extracellular matrix. Sarcoglycans are located on the surface of the muscle fiber and play a critical role in protecting the muscle from damage during contraction.

There are four main sarcoglycans, known as alpha, beta, gamma, and delta-sarcoglycan. Mutations in any one of these proteins can lead to a group of genetic disorders known as the sarcoglycanopathies, which are characterized by progressive muscle weakness and wasting. The most severe form of this disorder is called limb-girdle muscular dystrophy type 2C (LGMD2C), which is caused by mutations in the gamma-sarcoglycan gene.

In addition to their role in muscle cells, sarcoglycans have also been found to be expressed in other tissues, including the brain and the lungs, suggesting that they may have additional functions beyond their structural role in muscle.

Dystroglycans are a type of protein that play a crucial role in the structure and function of the muscle membrane (sarcolemma). They are an essential component of the dystrophin-glycoprotein complex, which helps maintain the stability and integrity of the sarcolemma during muscle contraction and relaxation.

Dystroglycans consist of two subunits: alpha-dystroglycan and beta-dystroglycan. Alpha-dystroglycan is a large, heavily glycosylated protein that extends from the intracellular space to the extracellular matrix, where it interacts with various extracellular matrix proteins such as laminin and agrin. Beta-dystroglycan, on the other hand, spans the muscle membrane and binds to dystrophin, a cytoskeletal protein that helps maintain the structural integrity of the sarcolemma.

Mutations in genes encoding for proteins involved in the glycosylation of alpha-dystroglycan can lead to a group of genetic disorders known as congenital muscular dystrophies, which are characterized by muscle weakness, hypotonia, and developmental delays. These disorders include Walker-Warburg syndrome, Fukuyama congenital muscular dystrophy, and Muscle-Eye-Brain disease, among others.

Corneal dystrophies, hereditary are a group of genetic disorders that affect the cornea, which is the clear, outermost layer at the front of the eye. These conditions are characterized by the buildup of abnormal material in the cornea, leading to decreased vision, pain, or cloudiness in the eye.

There are many different types of corneal dystrophies, each affecting a specific layer of the cornea and having its own pattern of inheritance. Some common types include:

1. Fuchs' endothelial dystrophy: This affects the inner lining of the cornea (endothelium) and causes swelling and cloudiness in the cornea. It is typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one parent has it.
2. Granular dystrophy: This affects the stroma, which is the middle layer of the cornea. It causes the formation of opaque, grayish-white deposits in the cornea that can affect vision. It is typically inherited in an autosomal dominant or recessive manner.
3. Lattice dystrophy: This also affects the stroma and is characterized by the formation of a lattice-like pattern of fine, whitish lines in the cornea. It is typically inherited in an autosomal dominant manner.
4. Macular dystrophy: This affects the central part of the cornea (macula) and can cause cloudiness, leading to decreased vision. It is typically inherited in an autosomal recessive manner.

Treatment for corneal dystrophies may include eyedrops, medications, or surgery, depending on the severity of the condition and its impact on vision. In some cases, a corneal transplant may be necessary to restore vision.

Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.

Oculopharyngeal Muscular Dystrophy (OPMD) is a genetic disorder that affects the muscles, particularly those around the eyes and throat. The medical definition of OPMD, as per the National Organization for Rare Disorders (NORD), is:

"Oculopharyngeal Muscular Dystrophy (OPMD) is an inherited neuromuscular disorder characterized by progressive weakness of specific muscle groups, particularly those around the eyes (ocular) and throat (pharyngeal). The symptoms may include drooping of the eyelids (ptosis), difficulty swallowing (dysphagia), and, in some cases, proximal limb weakness. Onset of the disorder usually occurs in adulthood, typically after age 40, but earlier onsets have been reported."

The underlying cause of OPMD is a genetic mutation that leads to the production of an abnormal protein in muscle cells, ultimately resulting in muscle degeneration and weakness.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Fuchs' Endothelial Dystrophy is a medical condition that affects the eye's cornea. It is a slowly progressing disorder that causes the endothelium, a thin layer of cells lining the inner surface of the cornea, to deteriorate and eventually fail to function properly. This results in swelling of the cornea, leading to cloudy vision, distorted vision, and sensitivity to light.

The condition is typically inherited and tends to affect both eyes. It is more common in women than in men and usually becomes apparent after the age of 50. There is no cure for Fuchs' Endothelial Dystrophy, but treatments such as corneal transplantation can help improve vision and alleviate symptoms.

Dystrophin-associated proteins (DAPs) are a group of structural and functional proteins that interact with dystrophin, a cytoskeletal protein found in muscle cells. Dystrophin helps to maintain the integrity of the muscle fiber membrane, or sarcolemma, during contractions. The dystrophin-associated protein complex (DAPC) includes dystroglycans, sarcoglycans, syntrophins, and dystrobrevins, among others.

Mutations in genes encoding DAPs can lead to various forms of muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. For example, mutations in the sarcoglycan gene can cause limb-girdle muscular dystrophy type 2C (LGMD2C), while defects in dystroglycan can result in congenital muscular dystrophy with mental retardation and structural brain abnormalities.

In summary, DAPs are a group of proteins that interact with dystrophin to maintain the stability and function of muscle fibers. Defects in these proteins can lead to various forms of muscular dystrophy.

Sarcolemma is the medical term for the cell membrane that surrounds a muscle fiber or a skeletal muscle cell. It is responsible for providing protection and structure to the muscle fiber, as well as regulating the movement of ions and other molecules in and out of the cell. The sarcolemma plays a crucial role in the excitation-contraction coupling process that allows muscles to contract and relax.

The sarcolemma is composed of two main layers: the outer plasma membrane, which is similar to the cell membranes of other cells, and the inner basal lamina, which provides structural support and helps to anchor the muscle fiber to surrounding tissues. The sarcolemma also contains various ion channels, receptors, and transporters that are involved in regulating muscle function and communication with other cells.

Damage to the sarcolemma can lead to a variety of muscle disorders, including muscular dystrophy and myasthenia gravis.

Thymopoietins are a group of hormone-like polypeptides that play a crucial role in the development and differentiation of T-lymphocytes (T-cells) within the thymus gland. The term "thymopoietin" is often used to refer specifically to a particular polypeptide called thymopoietin alpha, which was first identified in the 1970s. Thymopoietin alpha helps to promote the differentiation of immature T-cells into mature T-cells, and it also contributes to the process of negative selection, whereby self-reactive T-cells are eliminated to prevent autoimmune disorders.

Other factors that contribute to thymopoiesis (the production of T-cells in the thymus) may also be referred to as thymopoietins, including interleukin-7 (IL-7), which is produced by stromal cells in the thymus and helps to support the survival and proliferation of immature T-cells.

Overall, thymopoietins play a critical role in maintaining immune homeostasis and preventing the development of autoimmune diseases.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Creatine kinase (CK) is a muscle enzyme that is normally present in small amounts in the blood. It is primarily found in tissues that require a lot of energy, such as the heart, brain, and skeletal muscles. When these tissues are damaged or injured, CK is released into the bloodstream, causing the levels to rise.

Creatine kinase exists in several forms, known as isoenzymes, which can be measured in the blood to help identify the location of tissue damage. The three main isoenzymes are:

1. CK-MM: Found primarily in skeletal muscle
2. CK-MB: Found primarily in heart muscle
3. CK-BB: Found primarily in the brain

Elevated levels of creatine kinase, particularly CK-MB, can indicate damage to the heart muscle, such as occurs with a heart attack. Similarly, elevated levels of CK-BB may suggest brain injury or disease. Overall, measuring creatine kinase levels is a useful diagnostic tool for assessing tissue damage and determining the severity of injuries or illnesses.

Skeletal muscle fibers, also known as striated muscle fibers, are the type of muscle cells that make up skeletal muscles, which are responsible for voluntary movements of the body. These muscle fibers are long, cylindrical, and multinucleated, meaning they contain multiple nuclei. They are surrounded by a connective tissue layer called the endomysium, and many fibers are bundled together into fascicles, which are then surrounded by another layer of connective tissue called the perimysium.

Skeletal muscle fibers are composed of myofibrils, which are long, thread-like structures that run the length of the fiber. Myofibrils contain repeating units called sarcomeres, which are responsible for the striated appearance of skeletal muscle fibers. Sarcomeres are composed of thick and thin filaments, which slide past each other during muscle contraction to shorten the sarcomere and generate force.

Skeletal muscle fibers can be further classified into two main types based on their contractile properties: slow-twitch (type I) and fast-twitch (type II). Slow-twitch fibers have a high endurance capacity and are used for sustained, low-intensity activities such as maintaining posture. Fast-twitch fibers, on the other hand, have a higher contractile speed and force generation capacity but fatigue more quickly and are used for powerful, explosive movements.

Retinal dystrophies are a group of genetic eye disorders that primarily affect the retina, a light-sensitive layer at the back of the eye. These conditions are characterized by progressive degeneration and death of photoreceptor cells (rods and cones) in the retina, leading to vision loss.

The term "dystrophy" refers to a condition that results from the abnormal or defective development and function of tissues or organs. In the case of retinal dystrophies, the photoreceptor cells do not develop or function properly, resulting in visual impairment.

Retinal dystrophies can present at any age, from infancy to adulthood, and can have varying degrees of severity. Some common symptoms include night blindness, decreased visual acuity, loss of peripheral vision, light sensitivity, and color vision abnormalities.

Examples of retinal dystrophies include retinitis pigmentosa, Stargardt disease, Usher syndrome, and Leber congenital amaurosis, among others. These conditions are typically inherited and can be caused by mutations in various genes that play a role in the development and function of the retina.

There is currently no cure for retinal dystrophies, but research is ongoing to develop treatments that may slow or halt the progression of these conditions, such as gene therapy and stem cell transplantation.

Collagen Type VI is a type of collagen that is widely expressed in various tissues, including skeletal muscle, skin, and blood vessels. It is a major component of the extracellular matrix and plays important roles in maintaining tissue structure and function. Collagen Type VI forms microfilaments that provide structural support to the basement membrane and regulate cell-matrix interactions. Mutations in the genes encoding collagen Type VI can lead to several inherited connective tissue disorders, such as Bethlem myopathy and Ullrich congenital muscular dystrophy.

A muscle is a soft tissue in our body that contracts to produce force and motion. It is composed mainly of specialized cells called muscle fibers, which are bound together by connective tissue. There are three types of muscles: skeletal (voluntary), smooth (involuntary), and cardiac. Skeletal muscles attach to bones and help in movement, while smooth muscles are found within the walls of organs and blood vessels, helping with functions like digestion and circulation. Cardiac muscle is the specific type that makes up the heart, allowing it to pump blood throughout the body.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Myoblasts are types of cells that are responsible for the development and growth of muscle tissue in the body. They are undifferentiated cells, meaning they have not yet developed into their final form or function. Myoblasts fuse together to form myotubes, which then develop into muscle fibers, also known as myofibers. This process is called myogenesis and it plays a crucial role in the growth, repair, and maintenance of skeletal muscle tissue throughout an individual's life.

Myoblasts can be derived from various sources, including embryonic stem cells, induced pluripotent stem cells, or satellite cells, which are adult stem cells found within mature muscle tissue. Satellite cells are typically quiescent but can be activated in response to muscle damage or injury, proliferate and differentiate into myoblasts, and fuse together to repair and replace damaged muscle fibers.

Dysregulation of myogenesis and impaired myoblast function have been implicated in various muscle-related disorders, including muscular dystrophies, sarcopenia, and cachexia. Therefore, understanding the biology of myoblasts and their role in muscle development and regeneration is an important area of research with potential therapeutic implications for muscle-related diseases.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Muscle proteins are a type of protein that are found in muscle tissue and are responsible for providing structure, strength, and functionality to muscles. The two major types of muscle proteins are:

1. Contractile proteins: These include actin and myosin, which are responsible for the contraction and relaxation of muscles. They work together to cause muscle movement by sliding along each other and shortening the muscle fibers.
2. Structural proteins: These include titin, nebulin, and desmin, which provide structural support and stability to muscle fibers. Titin is the largest protein in the human body and acts as a molecular spring that helps maintain the integrity of the sarcomere (the basic unit of muscle contraction). Nebulin helps regulate the length of the sarcomere, while desmin forms a network of filaments that connects adjacent muscle fibers together.

Overall, muscle proteins play a critical role in maintaining muscle health and function, and their dysregulation can lead to various muscle-related disorders such as muscular dystrophy, myopathies, and sarcopenia.

The Dystrophin-Associated Protein Complex (DAPC) is a group of proteins found in muscle cells that work together to provide structural stability and support to the cell membrane, also known as the sarcolemma. The complex is named for its association with dystrophin, a protein that is deficient or mutated in individuals with Duchenne and Becker muscular dystrophy.

The DAPC includes several proteins, such as dystroglycan, sarcoglycans, syntrophins, and dystrobrevin, among others. These proteins form a network that connects the intracellular cytoskeleton to the extracellular matrix, helping to maintain the integrity of the muscle cell during contraction and relaxation.

Mutations in genes encoding for these DAPC proteins can lead to various forms of muscular dystrophy, including Duchenne and Becker muscular dystrophy, as well as limb-girdle muscular dystrophy and congenital muscular dystrophy. Understanding the structure and function of the DAPC is crucial for developing potential therapies to treat these genetic disorders.

Neuromuscular diseases are a group of disorders that involve the peripheral nervous system, which includes the nerves and muscles outside of the brain and spinal cord. These conditions can affect both children and adults, and they can be inherited or acquired. Neuromuscular diseases can cause a wide range of symptoms, including muscle weakness, numbness, tingling, pain, cramping, and twitching. Some common examples of neuromuscular diseases include muscular dystrophy, amyotrophic lateral sclerosis (ALS), peripheral neuropathy, and myasthenia gravis. The specific symptoms and severity of these conditions can vary widely depending on the underlying cause and the specific muscles and nerves that are affected. Treatment for neuromuscular diseases may include medications, physical therapy, assistive devices, or surgery, depending on the individual case.

Caveolin 3 is a protein that is primarily expressed in muscle cells, including cardiac and skeletal muscles. It is the principal structural component of caveolae, which are small invaginations of the plasma membrane that function as specialized microdomains involved in various cellular processes such as signal transduction, cholesterol homeostasis, and endocytosis.

Caveolin 3 plays a critical role in muscle physiology by regulating several signaling pathways that are important for muscle function, including the nitric oxide signaling pathway. Mutations in the gene encoding caveolin 3 have been associated with various inherited muscle disorders, such as limb-girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease (RMD), and distal myopathies. These genetic conditions are characterized by progressive muscle weakness, wasting, and degeneration.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Laminin is a family of proteins that are an essential component of the basement membrane, which is a specialized type of extracellular matrix. Laminins are large trimeric molecules composed of three different chains: α, β, and γ. There are five different α chains, three different β chains, and three different γ chains that can combine to form at least 15 different laminin isoforms.

Laminins play a crucial role in maintaining the structure and integrity of basement membranes by interacting with other components of the extracellular matrix, such as collagen IV, and cell surface receptors, such as integrins. They are involved in various biological processes, including cell adhesion, differentiation, migration, and survival.

Laminin dysfunction has been implicated in several human diseases, including cancer, diabetic nephropathy, and muscular dystrophy.

Muscular diseases, also known as myopathies, refer to a group of conditions that affect the functionality and health of muscle tissue. These diseases can be inherited or acquired and may result from inflammation, infection, injury, or degenerative processes. They can cause symptoms such as weakness, stiffness, cramping, spasms, wasting, and loss of muscle function.

Examples of muscular diseases include:

1. Duchenne Muscular Dystrophy (DMD): A genetic disorder that results in progressive muscle weakness and degeneration due to a lack of dystrophin protein.
2. Myasthenia Gravis: An autoimmune disease that causes muscle weakness and fatigue, typically affecting the eyes and face, throat, and limbs.
3. Inclusion Body Myositis (IBM): A progressive muscle disorder characterized by muscle inflammation and wasting, typically affecting older adults.
4. Polymyositis: An inflammatory myopathy that causes muscle weakness and inflammation throughout the body.
5. Metabolic Myopathies: A group of inherited disorders that affect muscle metabolism, leading to exercise intolerance, muscle weakness, and other symptoms.
6. Muscular Dystonias: Involuntary muscle contractions and spasms that can cause abnormal postures or movements.

It is important to note that muscular diseases can have a significant impact on an individual's quality of life, mobility, and overall health. Proper diagnosis and treatment are crucial for managing symptoms and improving outcomes.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Human chromosome pair 4 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical or very similar in length and gene content. Chromosomes are made up of DNA, which contains genetic information, and proteins that package and organize the DNA.

Human chromosomes are numbered from 1 to 22, with chromosome pair 4 being one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome pair 4 is a medium-sized pair and contains an estimated 1,800-2,000 genes. These genes provide instructions for making proteins that are essential for various functions in the body, such as development, growth, and metabolism.

Abnormalities in chromosome pair 4 can lead to genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion of part of the short arm of chromosome 4, and 4p16.3 microdeletion syndrome, which is caused by a deletion of a specific region on the short arm of chromosome 4. These conditions can result in developmental delays, intellectual disability, physical abnormalities, and other health problems.

Lamin Type A, also known as LMNA, is a gene that provides instructions for making proteins called lamins. These proteins are part of the nuclear lamina, a network of fibers that lies just inside the nuclear envelope, which is the membrane that surrounds the cell's nucleus. The nuclear lamina helps maintain the shape and stability of the nucleus and plays a role in regulating gene expression and DNA replication.

Mutations in the LMNA gene can lead to various diseases collectively known as laminopathies, which affect different tissues and organs in the body. These conditions include Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, dilated cardiomyopathy with conduction system disease, and a type of premature aging disorder called Hutchinson-Gilford progeria syndrome. The specific symptoms and severity of these disorders depend on the particular LMNA mutation and the tissues affected.

Cytoskeletal proteins are a type of structural proteins that form the cytoskeleton, which is the internal framework of cells. The cytoskeleton provides shape, support, and structure to the cell, and plays important roles in cell division, intracellular transport, and maintenance of cell shape and integrity.

There are three main types of cytoskeletal proteins: actin filaments, intermediate filaments, and microtubules. Actin filaments are thin, rod-like structures that are involved in muscle contraction, cell motility, and cell division. Intermediate filaments are thicker than actin filaments and provide structural support to the cell. Microtubules are hollow tubes that are involved in intracellular transport, cell division, and maintenance of cell shape.

Cytoskeletal proteins are composed of different subunits that polymerize to form filamentous structures. These proteins can be dynamically assembled and disassembled, allowing cells to change their shape and move. Mutations in cytoskeletal proteins have been linked to various human diseases, including cancer, neurological disorders, and muscular dystrophies.

Cardiomyopathies are a group of diseases that affect the heart muscle, leading to mechanical and/or electrical dysfunction. The American Heart Association (AHA) defines cardiomyopathies as "a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropriate ventricular hypertrophy or dilatation and frequently lead to heart failure."

There are several types of cardiomyopathies, including:

1. Dilated cardiomyopathy (DCM): This is the most common type of cardiomyopathy, characterized by an enlarged left ventricle and impaired systolic function, leading to heart failure.
2. Hypertrophic cardiomyopathy (HCM): In this type, there is abnormal thickening of the heart muscle, particularly in the septum between the two ventricles, which can obstruct blood flow and increase the risk of arrhythmias.
3. Restrictive cardiomyopathy (RCM): This is a rare form of cardiomyopathy characterized by stiffness of the heart muscle, impaired relaxation, and diastolic dysfunction, leading to reduced filling of the ventricles and heart failure.
4. Arrhythmogenic right ventricular cardiomyopathy (ARVC): In this type, there is replacement of the normal heart muscle with fatty or fibrous tissue, primarily affecting the right ventricle, which can lead to arrhythmias and sudden cardiac death.
5. Unclassified cardiomyopathies: These are conditions that do not fit into any of the above categories but still significantly affect the heart muscle and function.

Cardiomyopathies can be caused by genetic factors, acquired conditions (e.g., infections, toxins, or autoimmune disorders), or a combination of both. The diagnosis typically involves a comprehensive evaluation, including medical history, physical examination, electrocardiogram (ECG), echocardiography, cardiac magnetic resonance imaging (MRI), and sometimes genetic testing. Treatment depends on the type and severity of the condition but may include medications, lifestyle modifications, implantable devices, or even heart transplantation in severe cases.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Genetic therapy, also known as gene therapy, is a medical intervention that involves the use of genetic material, such as DNA or RNA, to treat or prevent diseases. It works by introducing functional genes into cells to replace missing or faulty ones caused by genetic disorders or mutations. The introduced gene is incorporated into the recipient's genome, allowing for the production of a therapeutic protein that can help manage the disease symptoms or even cure the condition.

There are several approaches to genetic therapy, including:

1. Replacing a faulty gene with a healthy one
2. Inactivating or "silencing" a dysfunctional gene causing a disease
3. Introducing a new gene into the body to help fight off a disease, such as cancer

Genetic therapy holds great promise for treating various genetic disorders, including cystic fibrosis, muscular dystrophy, hemophilia, and certain types of cancer. However, it is still an evolving field with many challenges, such as efficient gene delivery, potential immune responses, and ensuring the safety and long-term effectiveness of the therapy.

A diaphragm is a thin, dome-shaped muscle that separates the chest cavity from the abdominal cavity. It plays a vital role in the process of breathing as it contracts and flattens to draw air into the lungs (inhalation) and relaxes and returns to its domed shape to expel air out of the lungs (exhalation).

In addition, a diaphragm is also a type of barrier method of birth control. It is a flexible dome-shaped device made of silicone that fits over the cervix inside the vagina. When used correctly and consistently, it prevents sperm from entering the uterus and fertilizing an egg, thereby preventing pregnancy.

Regeneration in a medical context refers to the process of renewal, restoration, and growth that replaces damaged or missing cells, tissues, organs, or even whole limbs in some organisms. This complex biological process involves various cellular and molecular mechanisms, such as cell proliferation, differentiation, and migration, which work together to restore the structural and functional integrity of the affected area.

In human medicine, regeneration has attracted significant interest due to its potential therapeutic applications in treating various conditions, including degenerative diseases, trauma, and congenital disorders. Researchers are actively studying the underlying mechanisms of regeneration in various model organisms to develop novel strategies for promoting tissue repair and regeneration in humans.

Examples of regeneration in human medicine include liver regeneration after partial hepatectomy, where the remaining liver lobes can grow back to their original size within weeks, and skin wound healing, where keratinocytes migrate and proliferate to close the wound and restore the epidermal layer. However, the regenerative capacity of humans is limited compared to some other organisms, such as planarians and axolotls, which can regenerate entire body parts or even their central nervous system.

Muscle strength, in a medical context, refers to the amount of force a muscle or group of muscles can produce during contraction. It is the maximum amount of force that a muscle can generate through its full range of motion and is often measured in units of force such as pounds or newtons. Muscle strength is an important component of physical function and mobility, and it can be assessed through various tests, including manual muscle testing, dynamometry, and isokinetic testing. Factors that can affect muscle strength include age, sex, body composition, injury, disease, and physical activity level.

Neuroaxonal dystrophies (NADs) are a group of inherited neurological disorders characterized by degeneration of the neuronal axons, which are the long extensions of nerve cells that transmit impulses to other cells. This degeneration leads to progressive loss of motor and cognitive functions.

The term "neuroaxonal dystrophy" refers to a specific pattern of abnormalities seen on electron microscopy in nerve cells, including accumulation of membranous structures called "spheroids" or "tubulovesicular structures" within the axons.

NADs can be caused by mutations in various genes that play a role in maintaining the structure and function of neuronal axons. The most common forms of NADs include Infantile Neuroaxonal Dystrophy (INAD) or Seitelberger's Disease, and Late-Onset Neuroaxonal Dystrophy (LONAD).

Symptoms of INAD typically begin between ages 6 months and 2 years, and may include muscle weakness, hypotonia, decreased reflexes, vision loss, hearing impairment, and developmental delay. LONAD usually presents in childhood or adolescence with symptoms such as ataxia, dysarthria, cognitive decline, and behavioral changes.

Currently, there is no cure for NADs, and treatment is focused on managing symptoms and improving quality of life.

Sarcoglycanopathies are a group of autosomal recessive disorders that affect the muscle sarcolemma (cell membrane). They are caused by mutations in one of four genes (SGCA, SGCB, SGCD, and SGCG) that encode for sarcoglycan proteins. These proteins are part of a complex called the dystrophin-glycoprotein complex, which helps stabilize the sarcolemma and protect it from damage during muscle contraction and relaxation.

When any one of these sarcoglycan proteins is deficient or absent due to genetic mutations, the stability of the sarcolemma is compromised, leading to muscle fiber damage and degeneration. This results in various forms of muscular dystrophy, including limb-girdle muscular dystrophy (LGMD) types 2C-2F, and sometimes congenital muscular dystrophy or distal muscular dystrophy.

The clinical presentation of sarcoglycanopathies can vary widely, even among individuals with mutations in the same gene. Symptoms typically include progressive muscle weakness and wasting, often beginning in the pelvic or shoulder muscles and spreading to other parts of the body over time. Other features may include heart problems, respiratory difficulties, and contractures (permanent shortening of muscles or tendons).

Diagnosis of sarcoglycanopathies typically involves a combination of clinical evaluation, muscle biopsy, genetic testing, and immunohistochemical staining for sarcoglycan proteins. Treatment is primarily supportive and may include physical therapy, assistive devices, and respiratory support as needed. No specific cure or disease-modifying therapy is currently available for sarcoglycanopathies.

Walker-Warburg Syndrome (WWS) is a rare, inherited disorder that affects the development of muscles, nerves, and the brain. It is considered to be the most severe form of congenital muscular dystrophy (CMD), which is a group of genetic disorders characterized by muscle weakness and wasting.

WWS is caused by mutations in one of several genes involved in the formation and stabilization of the basement membrane, a thin layer that surrounds cells and helps to maintain their structure and function. As a result, individuals with WWS have abnormal brain development, including underdevelopment or absence of the cerebellum (the part of the brain responsible for coordinating movements), hydrocephalus (excessive accumulation of fluid in the brain), and eye abnormalities such as cataracts and retinal detachment.

Symptoms of WWS are usually apparent at birth or within the first few months of life, and may include weak muscle tone, feeding difficulties, developmental delays, seizures, and visual impairment. The condition is often fatal in infancy or early childhood due to respiratory complications or other medical issues.

There is currently no cure for WWS, and treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, feeding tubes, medications to control seizures, and surgery to correct eye abnormalities.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Muscle development, also known as muscle hypertrophy, refers to the increase in size and mass of the muscles through a process called myofiber growth. This is primarily achieved through resistance or strength training exercises that cause micro-tears in the muscle fibers, leading to an inflammatory response and the release of hormones that promote muscle growth. As the muscles repair themselves, they become larger and stronger than before. Proper nutrition, including adequate protein intake, and rest are also essential components of muscle development.

It is important to note that while muscle development can lead to an increase in strength and muscular endurance, it does not necessarily result in improved athletic performance or overall fitness. A well-rounded exercise program that includes cardiovascular activity, flexibility training, and resistance exercises is recommended for optimal health and fitness outcomes.

Calpains are a family of calcium-dependent cysteine proteases that play important roles in various cellular processes, including signal transduction, cell death, and remodeling of the cytoskeleton. They are present in most tissues and can be activated by an increase in intracellular calcium levels. There are at least 15 different calpain isoforms identified in humans, which are categorized into two groups based on their calcium requirements for activation: classical calpains (calpain-1 and calpain-2) and non-classical calpains (calpain-3 to calpain-15). Dysregulation of calpain activity has been implicated in several pathological conditions, such as neurodegenerative diseases, muscular dystrophies, and cancer.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Pregnenediones are a class of steroid hormones that contain a pregnane structure, which is a skeleton formed by four fused cyclohexane rings. Specifically, pregnenediones are characterized by having a ketone group (a carbonyl group, -C=O) at the 20th carbon position of this pregnane structure. They can be further classified into various subgroups based on the presence and location of other functional groups in the molecule.

Pregnenediones are not typically used as medications, but they do play important roles in the human body. For example, progesterone is a naturally occurring pregnenedione that plays a crucial role in maintaining pregnancy and preparing the uterus for childbirth. Other pregnenediones may also have hormonal activity or serve as intermediates in the synthesis of other steroid hormones.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

Muscle weakness is a condition in which muscles cannot develop the expected level of physical force or power. This results in reduced muscle function and can be caused by various factors, including nerve damage, muscle diseases, or hormonal imbalances. Muscle weakness may manifest as difficulty lifting objects, maintaining posture, or performing daily activities. It is essential to consult a healthcare professional for proper diagnosis and treatment of muscle weakness.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

Plectin is a large cytolinker protein that plays a crucial role in the structural organization and stability of the cell. It has the ability to interact with various components of the cytoskeleton, including intermediate filaments, microtubules, and actin filaments, thereby providing a critical link between these structures. Plectin is widely expressed in many tissues and is involved in maintaining the integrity and functionality of cells under both physiological and pathological conditions. Mutations in the gene encoding plectin have been associated with several human diseases, including epidermolysis bullosa, muscular dystrophy, and neuropathies.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Satellite cells in skeletal muscle are undifferentiated stem cells that are crucial for postnatal growth, maintenance, and repair of skeletal muscle. They are located between the basal lamina and plasma membrane of myofibers. In response to muscle damage or injury, satellite cells become activated, proliferate, differentiate into myoblasts, fuse with existing muscle fibers, and contribute to muscle regeneration. Satellite cells also play a role in maintaining muscle homeostasis by fusing with mature muscle fibers to replace damaged proteins and organelles. They are essential for the adaptation of skeletal muscle to various stimuli such as exercise or mechanical load.

Myostatin is a protein that is primarily known for its role in regulating muscle growth. It's also called "growth differentiation factor 8" or GDF-8. Produced by muscle cells, myostatin inhibits the process of muscle growth by preventing the transformation of stem cells into muscle fibers and promoting the breakdown of existing muscle proteins.

In essence, myostatin acts as a negative regulator of muscle mass, keeping it in check to prevent excessive growth. Mutations leading to reduced myostatin activity or expression have been associated with increased muscle mass and strength in both animals and humans, making it a potential target for therapeutic interventions in muscle-wasting conditions such as muscular dystrophy and age-related sarcopenia.

A dependovirus, also known as a dependent adenovirus or satellite adenovirus, is a type of virus that requires the presence of another virus, specifically an adenovirus, to replicate. Dependoviruses are small, non-enveloped viruses with a double-stranded DNA genome. They cannot complete their replication cycle without the help of an adenovirus, which provides necessary functions for the dependovirus to replicate.

Dependoviruses are clinically significant because they can cause disease in humans, particularly in individuals with weakened immune systems. In some cases, dependoviruses may also affect the severity and outcome of adenovirus infections. However, it is important to note that not all adenovirus infections are associated with dependovirus co-infections.

Morpholinos are synthetic oligonucleotides that contain morpholine rings in their backbone instead of the ribose or deoxyribose sugars found in DNA and RNA. They are often used as antisense agents to inhibit gene expression by binding to complementary RNA sequences, preventing translation or splicing. Morpholinos are resistant to nucleases and have a neutral charge, which makes them more stable and less likely to cause off-target effects compared to other antisense technologies. They have been widely used in research to study gene function and have also shown promise as therapeutic agents for various diseases, including neuromuscular disorders and viral infections.

Myositis is a medical term that refers to inflammation of the muscle tissue. This condition can cause various symptoms, including muscle weakness, pain, swelling, and stiffness. There are several types of myositis, such as polymyositis, dermatomyositis, and inclusion body myositis, which have different causes and characteristics.

Polymyositis is a type of myositis that affects multiple muscle groups, particularly those close to the trunk of the body. Dermatomyositis is characterized by muscle inflammation as well as a skin rash. Inclusion body myositis is a less common form of myositis that typically affects older adults and can cause both muscle weakness and wasting.

The causes of myositis vary depending on the type, but they can include autoimmune disorders, infections, medications, and other medical conditions. Treatment for myositis may involve medication to reduce inflammation, physical therapy to maintain muscle strength and flexibility, and lifestyle changes to manage symptoms and prevent complications.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Genetic counseling is a process of communication and education between a healthcare professional and an individual or family, aimed at understanding, adapting to, and managing the medical, psychological, and familial implications of genetic contributions to disease. This includes providing information about the risk of inherited conditions, explaining the implications of test results, discussing reproductive options, and offering support and resources for coping with a genetic condition. Genetic counselors are trained healthcare professionals who specialize in helping people understand genetic information and its impact on their health and lives.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Connectin is also known as titin, which is a giant protein that plays a crucial role in the elasticity and stiffness of muscle fibers. It is the largest protein in humans, spanning half the length of a muscle cell's sarcomere, the basic unit of muscle contraction. Connectin/titin has several domains with different functions, including binding to other proteins, regulating muscle contraction, and signaling within the muscle cell. Mutations in the connectin/titin gene have been associated with various forms of muscular dystrophy and cardiomyopathy.

Reflex Sympathetic Dystrophy (RSD), also known as Complex Regional Pain Syndrome (CRPS), is a chronic pain condition that most often affects a limb after an injury or trauma. It is characterized by prolonged or excessive pain and sensitivity, along with changes in skin color, temperature, and swelling.

The symptoms of RSD/CRPS are thought to be caused by an overactive sympathetic nervous system, which controls involuntary bodily functions such as heart rate, blood pressure, and sweating. In RSD/CRPS, the sympathetic nerves are believed to send incorrect signals to the brain, causing it to perceive intense pain even in the absence of any actual tissue damage.

RSD/CRPS can be classified into two types: Type 1, which occurs after an injury or trauma that did not directly damage the nerves, and Type 2, which occurs after a distinct nerve injury. The symptoms of both types are similar, but Type 2 is typically more severe and may involve more widespread nerve damage.

Treatment for RSD/CRPS usually involves a combination of medications, physical therapy, and other therapies such as spinal cord stimulation or sympathetic nerve blocks. Early diagnosis and treatment can help improve outcomes and reduce the risk of long-term complications.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

Skeletal myoblasts are the precursor cells responsible for the formation and repair of skeletal muscle fibers. They are also known as satellite cells, located in a quiescent state between the basal lamina and sarcolemma of mature muscle fibers. Upon muscle injury or damage, these cells become activated, proliferate, differentiate into myocytes, align with existing muscle fibers, and fuse to form new muscle fibers or repair damaged ones. This process is crucial for postnatal growth, maintenance, and regeneration of skeletal muscles.

Dilated cardiomyopathy (DCM) is a type of cardiomyopathy characterized by the enlargement and weakened contraction of the heart's main pumping chamber (the left ventricle). This enlargement and weakness can lead to symptoms such as shortness of breath, fatigue, and fluid retention. DCM can be caused by various factors including genetics, viral infections, alcohol and drug abuse, and other medical conditions like high blood pressure and diabetes. It is important to note that this condition can lead to heart failure if left untreated.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Muscle cells, also known as muscle fibers, are specialized cells that have the ability to contract and generate force, allowing for movement of the body and various internal organ functions. There are three main types of muscle tissue: skeletal, cardiac, and smooth.

Skeletal muscle cells are voluntary striated muscles attached to bones, enabling body movements and posture. They are multinucleated, with numerous nuclei located at the periphery of the cell. These cells are often called muscle fibers and can be quite large, extending the entire length of the muscle.

Cardiac muscle cells form the contractile tissue of the heart. They are also striated but have a single nucleus per cell and are interconnected by specialized junctions called intercalated discs, which help coordinate contraction throughout the heart.

Smooth muscle cells are found in various internal organs such as the digestive, respiratory, and urinary tracts, blood vessels, and the reproductive system. They are involuntary, non-striated muscles that control the internal organ functions. Smooth muscle cells have a single nucleus per cell and can either be spindle-shaped or stellate (star-shaped).

In summary, muscle cells are specialized contractile cells responsible for movement and various internal organ functions in the human body. They can be categorized into three types: skeletal, cardiac, and smooth, based on their structure, location, and function.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Vitelliform Macular Dystrophy is a genetic eye condition that affects the macula, which is the central part of the retina responsible for sharp, detailed vision. This disorder is characterized by the formation of yellowish deposits or lesions beneath the retina at the macula, giving it an appearance similar to an egg yolk (hence the name "vitelliform"). These deposits can disturb vision and may lead to progressive vision loss over time.

There are different types of Vitelliform Macular Dystrophy, with the most common being Best's Disease or Vitelliform Macular Dystrophy type 1 (VMD1). This form is caused by mutations in the BEST1 gene and typically manifests in childhood or early adulthood. The condition can progress through various stages, including the appearance of a yellowish lesion, followed by atrophy and scarring of the retina, which can result in significant vision loss.

Another form is Vitelliform Macular Dystrophy type 2 (VMD2), caused by mutations in the PRPH2 gene. This condition tends to progress more slowly than VMD1 and may not lead to severe vision loss.

Early diagnosis, monitoring, and low-vision rehabilitation can help manage the symptoms of Vitelliform Macular Dystrophy and maintain visual function as much as possible.

A biopsy is a medical procedure in which a small sample of tissue is taken from the body to be examined under a microscope for the presence of disease. This can help doctors diagnose and monitor various medical conditions, such as cancer, infections, or autoimmune disorders. The type of biopsy performed will depend on the location and nature of the suspected condition. Some common types of biopsies include:

1. Incisional biopsy: In this procedure, a surgeon removes a piece of tissue from an abnormal area using a scalpel or other surgical instrument. This type of biopsy is often used when the lesion is too large to be removed entirely during the initial biopsy.

2. Excisional biopsy: An excisional biopsy involves removing the entire abnormal area, along with a margin of healthy tissue surrounding it. This technique is typically employed for smaller lesions or when cancer is suspected.

3. Needle biopsy: A needle biopsy uses a thin, hollow needle to extract cells or fluid from the body. There are two main types of needle biopsies: fine-needle aspiration (FNA) and core needle biopsy. FNA extracts loose cells, while a core needle biopsy removes a small piece of tissue.

4. Punch biopsy: In a punch biopsy, a round, sharp tool is used to remove a small cylindrical sample of skin tissue. This type of biopsy is often used for evaluating rashes or other skin abnormalities.

5. Shave biopsy: During a shave biopsy, a thin slice of tissue is removed from the surface of the skin using a sharp razor-like instrument. This technique is typically used for superficial lesions or growths on the skin.

After the biopsy sample has been collected, it is sent to a laboratory where a pathologist will examine the tissue under a microscope and provide a diagnosis based on their findings. The results of the biopsy can help guide further treatment decisions and determine the best course of action for managing the patient's condition.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

Electroretinography (ERG) is a medical test used to evaluate the functioning of the retina, which is the light-sensitive tissue located at the back of the eye. The test measures the electrical responses of the retina to light stimulation.

During the procedure, a special contact lens or electrode is placed on the surface of the eye to record the electrical activity generated by the retina's light-sensitive cells (rods and cones) and other cells in the retina. The test typically involves presenting different levels of flashes of light to the eye while the electrical responses are recorded.

The resulting ERG waveform provides information about the overall health and function of the retina, including the condition of the photoreceptors, the integrity of the inner retinal layers, and the health of the retinal ganglion cells. This test is often used to diagnose and monitor various retinal disorders, such as retinitis pigmentosa, macular degeneration, and diabetic retinopathy.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Integrins are a family of cell-surface receptors that play crucial roles in various biological processes, including cell adhesion, migration, and signaling. Integrin alpha chains are one of the two subunits that make up an integrin heterodimer, with the other subunit being an integrin beta chain.

Integrin alpha chains are transmembrane glycoproteins consisting of a large extracellular domain, a single transmembrane segment, and a short cytoplasmic tail. The extracellular domain contains several domains that mediate ligand binding, while the cytoplasmic tail interacts with various cytoskeletal proteins and signaling molecules to regulate intracellular signaling pathways.

There are 18 different integrin alpha chains known in humans, each of which can pair with one or more beta chains to form distinct integrin heterodimers. These heterodimers exhibit unique ligand specificities and functions, allowing them to mediate diverse cell-matrix and cell-cell interactions.

In summary, integrin alpha chains are essential subunits of integrin receptors that play crucial roles in regulating cell adhesion, migration, and signaling by mediating interactions between cells and their extracellular environment.

Evans Blue is not a medical condition or diagnosis, but rather a dye that is used in medical research and tests. It is a dark blue dye that binds to albumin (a type of protein) in the bloodstream. This complex is too large to pass through the walls of capillaries, so it remains in the blood vessels and does not enter the surrounding tissues. As a result, Evans Blue can be used as a marker to visualize or measure the volume of the circulatory system.

In research settings, Evans Blue is sometimes used in studies involving the brain and nervous system. For example, it may be injected into the cerebrospinal fluid (the fluid that surrounds the brain and spinal cord) to help researchers see the distribution of this fluid in the brain. It can also be used to study blood-brain barrier function, as changes in the permeability of the blood-brain barrier can allow Evans Blue to leak into the brain tissue.

It is important to note that Evans Blue should only be used under the supervision of a trained medical professional, as it can be harmful if ingested or inhaled.

Glycerol kinase is an enzyme that plays a crucial role in the metabolism of glycerol, which is a simple carbohydrate. The enzyme catalyzes the conversion of glycerol to glycerol-3-phosphate by transferring a phosphate group from ATP to glycerol. This reaction is an essential step in the metabolic pathway that leads to the formation of glucose or other energy-rich compounds in the body.

There are two main forms of glycerol kinase found in humans, designated as GK1 and GK2. GK1 is primarily expressed in the liver, while GK2 is found in various tissues, including the brain, heart, and muscles. Deficiencies in glycerol kinase can lead to metabolic disorders such as hyperglycerolemia, which is characterized by high levels of glycerol in the blood.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Gene deletion is a type of mutation where a segment of DNA, containing one or more genes, is permanently lost or removed from a chromosome. This can occur due to various genetic mechanisms such as homologous recombination, non-homologous end joining, or other types of genomic rearrangements.

The deletion of a gene can have varying effects on the organism, depending on the function of the deleted gene and its importance for normal physiological processes. If the deleted gene is essential for survival, the deletion may result in embryonic lethality or developmental abnormalities. However, if the gene is non-essential or has redundant functions, the deletion may not have any noticeable effects on the organism's phenotype.

Gene deletions can also be used as a tool in genetic research to study the function of specific genes and their role in various biological processes. For example, researchers may use gene deletion techniques to create genetically modified animal models to investigate the impact of gene deletion on disease progression or development.

Lamins are type V intermediate filament proteins that play a structural role in the nuclear envelope. They are the main components of the nuclear lamina, a mesh-like structure located inside the inner membrane of the nuclear envelope. Lamins are organized into homo- and heterodimers, which assemble into higher-order polymers to form the nuclear lamina. This structure provides mechanical support to the nucleus, helps maintain the shape and integrity of the nucleus, and plays a role in various nuclear processes such as DNA replication, transcription, and chromatin organization. Mutations in the genes encoding lamins have been associated with various human diseases, collectively known as laminopathies, which include muscular dystrophies, neuropathies, cardiomyopathies, and premature aging disorders.

Muscle contraction is the physiological process in which muscle fibers shorten and generate force, leading to movement or stability of a body part. This process involves the sliding filament theory where thick and thin filaments within the sarcomeres (the functional units of muscles) slide past each other, facilitated by the interaction between myosin heads and actin filaments. The energy required for this action is provided by the hydrolysis of adenosine triphosphate (ATP). Muscle contractions can be voluntary or involuntary, and they play a crucial role in various bodily functions such as locomotion, circulation, respiration, and posture maintenance.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

A nonsense codon is a sequence of three nucleotides in DNA or RNA that does not code for an amino acid. Instead, it signals the end of the protein-coding region of a gene and triggers the termination of translation, the process by which the genetic code is translated into a protein.

In DNA, the nonsense codons are UAA, UAG, and UGA, which are also known as "stop codons." When these codons are encountered during translation, they cause the release of the newly synthesized polypeptide chain from the ribosome, bringing the process of protein synthesis to a halt.

Nonsense mutations are changes in the DNA sequence that result in the appearance of a nonsense codon where an amino acid-coding codon used to be. These types of mutations can lead to premature termination of translation and the production of truncated, nonfunctional proteins, which can cause genetic diseases or contribute to cancer development.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Scoliosis is a medical condition characterized by an abnormal lateral curvature of the spine, which most often occurs in the thoracic or lumbar regions. The curvature can be "C" or "S" shaped and may also include rotation of the vertebrae. Mild scoliosis doesn't typically cause problems, but severe cases can interfere with breathing and other bodily functions.

The exact cause of most scoliosis is unknown, but it may be related to genetic factors. It often develops in the pre-teen or teenage years, particularly in girls, and is more commonly found in individuals with certain neuromuscular disorders such as cerebral palsy and muscular dystrophy.

Treatment for scoliosis depends on the severity of the curve, its location, and the age and expected growth of the individual. Mild cases may only require regular monitoring to ensure the curve doesn't worsen. More severe cases may require bracing or surgery to correct the curvature and prevent it from getting worse.

Membrane glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone. They are integral components of biological membranes, spanning the lipid bilayer and playing crucial roles in various cellular processes.

The glycosylation of these proteins occurs in the endoplasmic reticulum (ER) and Golgi apparatus during protein folding and trafficking. The attached glycans can vary in structure, length, and composition, which contributes to the diversity of membrane glycoproteins.

Membrane glycoproteins can be classified into two main types based on their orientation within the lipid bilayer:

1. Type I (N-linked): These glycoproteins have a single transmembrane domain and an extracellular N-terminus, where the oligosaccharides are predominantly attached via asparagine residues (Asn-X-Ser/Thr sequon).
2. Type II (C-linked): These glycoproteins possess two transmembrane domains and an intracellular C-terminus, with the oligosaccharides linked to tryptophan residues via a mannose moiety.

Membrane glycoproteins are involved in various cellular functions, such as:

* Cell adhesion and recognition
* Receptor-mediated signal transduction
* Enzymatic catalysis
* Transport of molecules across membranes
* Cell-cell communication
* Immunological responses

Some examples of membrane glycoproteins include cell surface receptors (e.g., growth factor receptors, cytokine receptors), adhesion molecules (e.g., integrins, cadherins), and transporters (e.g., ion channels, ABC transporters).

Western blotting is a laboratory technique used in molecular biology to detect and quantify specific proteins in a mixture of many different proteins. This technique is commonly used to confirm the expression of a protein of interest, determine its size, and investigate its post-translational modifications. The name "Western" blotting distinguishes this technique from Southern blotting (for DNA) and Northern blotting (for RNA).

The Western blotting procedure involves several steps:

1. Protein extraction: The sample containing the proteins of interest is first extracted, often by breaking open cells or tissues and using a buffer to extract the proteins.
2. Separation of proteins by electrophoresis: The extracted proteins are then separated based on their size by loading them onto a polyacrylamide gel and running an electric current through the gel (a process called sodium dodecyl sulfate-polyacrylamide gel electrophoresis or SDS-PAGE). This separates the proteins according to their molecular weight, with smaller proteins migrating faster than larger ones.
3. Transfer of proteins to a membrane: After separation, the proteins are transferred from the gel onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric current in a process called blotting. This creates a replica of the protein pattern on the gel but now immobilized on the membrane for further analysis.
4. Blocking: The membrane is then blocked with a blocking agent, such as non-fat dry milk or bovine serum albumin (BSA), to prevent non-specific binding of antibodies in subsequent steps.
5. Primary antibody incubation: A primary antibody that specifically recognizes the protein of interest is added and allowed to bind to its target protein on the membrane. This step may be performed at room temperature or 4°C overnight, depending on the antibody's properties.
6. Washing: The membrane is washed with a buffer to remove unbound primary antibodies.
7. Secondary antibody incubation: A secondary antibody that recognizes the primary antibody (often coupled to an enzyme or fluorophore) is added and allowed to bind to the primary antibody. This step may involve using a horseradish peroxidase (HRP)-conjugated or alkaline phosphatase (AP)-conjugated secondary antibody, depending on the detection method used later.
8. Washing: The membrane is washed again to remove unbound secondary antibodies.
9. Detection: A detection reagent is added to visualize the protein of interest by detecting the signal generated from the enzyme-conjugated or fluorophore-conjugated secondary antibody. This can be done using chemiluminescent, colorimetric, or fluorescent methods.
10. Analysis: The resulting image is analyzed to determine the presence and quantity of the protein of interest in the sample.

Western blotting is a powerful technique for identifying and quantifying specific proteins within complex mixtures. It can be used to study protein expression, post-translational modifications, protein-protein interactions, and more. However, it requires careful optimization and validation to ensure accurate and reproducible results.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Fibrosis is a pathological process characterized by the excessive accumulation and/or altered deposition of extracellular matrix components, particularly collagen, in various tissues and organs. This results in the formation of fibrous scar tissue that can impair organ function and structure. Fibrosis can occur as a result of chronic inflammation, tissue injury, or abnormal repair mechanisms, and it is a common feature of many diseases, including liver cirrhosis, lung fibrosis, heart failure, and kidney disease.

In medical terms, fibrosis is defined as:

"The process of producing scar tissue (consisting of collagen) in response to injury or chronic inflammation in normal connective tissue. This can lead to the thickening and stiffening of affected tissues and organs, impairing their function."

Nitric Oxide Synthase Type I, also known as NOS1 or neuronal nitric oxide synthase (nNOS), is an enzyme that catalyzes the production of nitric oxide (NO) from L-arginine. It is primarily expressed in the nervous system, particularly in neurons, and plays a crucial role in the regulation of neurotransmission, synaptic plasticity, and cerebral blood flow. NOS1 is calcium-dependent and requires several cofactors for its activity, including NADPH, FAD, FMN, and calmodulin. It is involved in various physiological and pathological processes, such as learning and memory, seizure susceptibility, and neurodegenerative disorders.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

A sequence deletion in a genetic context refers to the removal or absence of one or more nucleotides (the building blocks of DNA or RNA) from a specific region in a DNA or RNA molecule. This type of mutation can lead to the loss of genetic information, potentially resulting in changes in the function or expression of a gene. If the deletion involves a critical portion of the gene, it can cause diseases, depending on the role of that gene in the body. The size of the deleted sequence can vary, ranging from a single nucleotide to a large segment of DNA.

Oligoribonucleotides are short, single-stranded RNA molecules that consist of fewer than 200 nucleotides. Antisense oligoribonucleotides (ORNs) are a type of oligoribonucleotide that are designed to be complementary to a specific target RNA molecule. They work by binding to the target RNA through base-pairing, which can prevent the target RNA from being translated into protein or can trigger its degradation by cellular enzymes. Antisense ORNs have potential therapeutic applications in the treatment of various diseases, including viral infections and genetic disorders.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

A genetic vector is a vehicle, often a plasmid or a virus, that is used to introduce foreign DNA into a host cell as part of genetic engineering or gene therapy techniques. The vector contains the desired gene or genes, along with regulatory elements such as promoters and enhancers, which are needed for the expression of the gene in the target cells.

The choice of vector depends on several factors, including the size of the DNA to be inserted, the type of cell to be targeted, and the efficiency of uptake and expression required. Commonly used vectors include plasmids, adenoviruses, retroviruses, and lentiviruses.

Plasmids are small circular DNA molecules that can replicate independently in bacteria. They are often used as cloning vectors to amplify and manipulate DNA fragments. Adenoviruses are double-stranded DNA viruses that infect a wide range of host cells, including human cells. They are commonly used as gene therapy vectors because they can efficiently transfer genes into both dividing and non-dividing cells.

Retroviruses and lentiviruses are RNA viruses that integrate their genetic material into the host cell's genome. This allows for stable expression of the transgene over time. Lentiviruses, a subclass of retroviruses, have the advantage of being able to infect non-dividing cells, making them useful for gene therapy applications in post-mitotic tissues such as neurons and muscle cells.

Overall, genetic vectors play a crucial role in modern molecular biology and medicine, enabling researchers to study gene function, develop new therapies, and modify organisms for various purposes.

Muscular atrophy is a condition characterized by a decrease in the size and mass of muscles due to lack of use, disease, or injury. This occurs when there is a disruption in the balance between muscle protein synthesis and degradation, leading to a net loss of muscle proteins. There are two main types of muscular atrophy:

1. Disuse atrophy: This type of atrophy occurs when muscles are not used or are immobilized for an extended period, such as after an injury, surgery, or prolonged bed rest. In this case, the nerves that control the muscles may still be functioning properly, but the muscles themselves waste away due to lack of use.
2. Neurogenic atrophy: This type of atrophy is caused by damage to the nerves that supply the muscles, leading to muscle weakness and wasting. Conditions such as amyotrophic lateral sclerosis (ALS), spinal cord injuries, and peripheral neuropathies can cause neurogenic atrophy.

In both cases, the affected muscles may become weak, shrink in size, and lose their tone and mass. Treatment for muscular atrophy depends on the underlying cause and may include physical therapy, exercise, and medication to manage symptoms and improve muscle strength and function.

Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.

These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.

It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.

Antisense oligonucleotides (ASOs) are short synthetic single stranded DNA-like molecules that are designed to complementarily bind to a specific RNA sequence through base-pairing, with the goal of preventing the translation of the target RNA into protein or promoting its degradation.

The antisense oligonucleotides work by hybridizing to the targeted messenger RNA (mRNA) molecule and inducing RNase H-mediated degradation, sterically blocking ribosomal translation, or modulating alternative splicing of the pre-mRNA.

ASOs have shown promise as therapeutic agents for various genetic diseases, viral infections, and cancers by specifically targeting disease-causing genes. However, their clinical application is still facing challenges such as off-target effects, stability, delivery, and potential immunogenicity.

The myocardium is the middle layer of the heart wall, composed of specialized cardiac muscle cells that are responsible for pumping blood throughout the body. It forms the thickest part of the heart wall and is divided into two sections: the left ventricle, which pumps oxygenated blood to the rest of the body, and the right ventricle, which pumps deoxygenated blood to the lungs.

The myocardium contains several types of cells, including cardiac muscle fibers, connective tissue, nerves, and blood vessels. The muscle fibers are arranged in a highly organized pattern that allows them to contract in a coordinated manner, generating the force necessary to pump blood through the heart and circulatory system.

Damage to the myocardium can occur due to various factors such as ischemia (reduced blood flow), infection, inflammation, or genetic disorders. This damage can lead to several cardiac conditions, including heart failure, arrhythmias, and cardiomyopathy.

Myotonic disorders are a group of genetic muscle diseases characterized by the inability to relax muscles (myotonia) after contraction. Myotonia can cause symptoms such as stiffness, muscle spasms, and prolonged muscle contractions or cramps. These disorders may also be associated with other symptoms, including muscle weakness, wasting, and various systemic features.

The most common myotonic disorder is myotonic dystrophy type 1 (DM1), which is caused by a mutation in the DMPK gene. Myotonic dystrophy type 2 (DM2) is another form of myotonic dystrophy, resulting from a mutation in the CNBP gene. These two forms of myotonic dystrophy have distinct genetic causes but share similar clinical features, such as myotonia and muscle weakness.

Other less common myotonic disorders include:

1. Myotonia congenita - A group of inherited conditions characterized by muscle stiffness from birth or early childhood. There are two main types: Thomsen's disease (autosomal dominant) and Becker's disease (autosomal recessive).
2. Paramyotonia congenita - An autosomal dominant disorder characterized by muscle stiffness triggered by cold temperatures or physical exertion.
3. Potassium-aggravated myotonia (PAM) - A rare, autosomal dominant condition with symptoms similar to paramyotonia congenita but without the cold sensitivity.
4. Myotonia fluctuans - A rare, autosomal dominant disorder characterized by fluctuating muscle stiffness and cramps.
5. Acquired myotonia - Rare cases of myotonia caused by factors other than genetic mutations, such as medication side effects or underlying medical conditions.

Myotonic disorders can significantly impact a person's quality of life, making daily activities challenging. Proper diagnosis and management are essential to help alleviate symptoms and improve overall well-being.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Glycosylation is the enzymatic process of adding a sugar group, or glycan, to a protein, lipid, or other organic molecule. This post-translational modification plays a crucial role in modulating various biological functions, such as protein stability, trafficking, and ligand binding. The structure and composition of the attached glycans can significantly influence the functional properties of the modified molecule, contributing to cell-cell recognition, signal transduction, and immune response regulation. Abnormal glycosylation patterns have been implicated in several disease states, including cancer, diabetes, and neurodegenerative disorders.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

Creatine kinase (CK) is an enzyme found in various tissues in the body, including the heart, brain, and skeletal muscles. It plays a crucial role in energy metabolism by catalyzing the conversion of creatine and adenosine triphosphate (ATP) to phosphocreatine and adenosine diphosphate (ADP). This reaction helps regenerate ATP, which is the primary source of energy for cellular functions.

There are three main isoforms of CK in the human body: CK-MM, CK-MB, and CK-BB. The CK-MM form is primarily found in skeletal muscles and constitutes approximately 95% to 99% of the total CK activity in healthy individuals. It is a dimer composed of two muscle-specific subunits (M-CK).

Elevated levels of CK-MM in the blood can indicate damage or injury to skeletal muscles. This can occur due to various reasons, such as muscle trauma, strenuous exercise, muscle diseases, and certain medications. Measuring CK-MM levels is essential in diagnosing and monitoring conditions associated with muscle damage or disease.

Mannosyltransferases are a group of enzymes that catalyze the transfer of mannose (a type of sugar) to specific acceptor molecules during the process of glycosylation. Glycosylation is the attachment of carbohydrate groups, or glycans, to proteins and lipids, which plays a crucial role in various biological processes such as protein folding, quality control, trafficking, and cell-cell recognition.

In particular, mannosyltransferases are involved in the addition of mannose residues to the core oligosaccharide structure of N-linked glycans in the endoplasmic reticulum (ER) and Golgi apparatus of eukaryotic cells. These enzymes use a donor substrate, typically dolichol-phosphate-mannose (DPM), to add mannose molecules to the acceptor substrate, which is an asparagine residue within a growing glycan chain.

There are several classes of mannosyltransferases, each responsible for adding mannose to specific positions within the glycan structure. Defects in these enzymes can lead to various genetic disorders known as congenital disorders of glycosylation (CDG), which can affect multiple organ systems and result in a wide range of clinical manifestations.

Facial muscles, also known as facial nerves or cranial nerve VII, are a group of muscles responsible for various expressions and movements of the face. These muscles include:

1. Orbicularis oculi: muscle that closes the eyelid and raises the upper eyelid
2. Corrugator supercilii: muscle that pulls the eyebrows down and inward, forming wrinkles on the forehead
3. Frontalis: muscle that raises the eyebrows and forms horizontal wrinkles on the forehead
4. Procerus: muscle that pulls the medial ends of the eyebrows downward, forming vertical wrinkles between the eyebrows
5. Nasalis: muscle that compresses or dilates the nostrils
6. Depressor septi: muscle that pulls down the tip of the nose
7. Levator labii superioris alaeque nasi: muscle that raises the upper lip and flares the nostrils
8. Levator labii superioris: muscle that raises the upper lip
9. Zygomaticus major: muscle that raises the corner of the mouth, producing a smile
10. Zygomaticus minor: muscle that raises the nasolabial fold and corner of the mouth
11. Risorius: muscle that pulls the angle of the mouth laterally, producing a smile
12. Depressor anguli oris: muscle that pulls down the angle of the mouth
13. Mentalis: muscle that raises the lower lip and forms wrinkles on the chin
14. Buccinator: muscle that retracts the cheek and helps with chewing
15. Platysma: muscle that depresses the corner of the mouth and wrinkles the skin of the neck.

These muscles are innervated by the facial nerve, which arises from the brainstem and exits the skull through the stylomastoid foramen. Damage to the facial nerve can result in facial paralysis or weakness on one or both sides of the face.

A DNA probe is a single-stranded DNA molecule that contains a specific sequence of nucleotides, and is labeled with a detectable marker such as a radioisotope or a fluorescent dye. It is used in molecular biology to identify and locate a complementary sequence within a sample of DNA. The probe hybridizes (forms a stable double-stranded structure) with its complementary sequence through base pairing, allowing for the detection and analysis of the target DNA. This technique is widely used in various applications such as genetic testing, diagnosis of infectious diseases, and forensic science.

N-Acetylglucosaminyltransferases (GlcNAc transferases) are a group of enzymes that play a crucial role in the post-translational modification of proteins by adding N-acetylglucosamine (GlcNAc) to specific amino acids in a protein sequence. These enzymes catalyze the transfer of GlcNAc from a donor molecule, typically UDP-GlcNAc, to acceptor proteins, which can be other glycoproteins or proteins without any prior glycosylation.

The addition of N-acetylglucosamine by these enzymes is an essential step in the formation of complex carbohydrate structures called N-linked glycans, which are attached to asparagine residues within the protein sequence. The process of adding GlcNAc can occur in different ways, leading to various types of N-glycan structures, such as oligomannose, hybrid, and complex types.

There are several classes of N-Acetylglucosaminyltransferases (GnTs) based on their substrate specificity and the type of glycosidic linkage they form:

1. GnT I (MGAT1): Transfers GlcNAc to the α1,6 position of the mannose residue in the chitobiose core of N-linked glycans, initiating the formation of complex-type structures.
2. GnT II (MGAT2): Adds a second GlcNAc residue to the β1,4 position of the mannose residue at the non-reducing end of the chitobiose core, forming bi-antennary N-glycans.
3. GnT III (MGAT3): Transfers GlcNAc to the β1,4 position of the mannose residue in the chitobiose core, creating a branching point for further glycosylation and leading to tri- or tetra-antennary N-glycans.
4. GnT IV (MGAT4): Adds GlcNAc to the β1,4 position of the mannose residue at the non-reducing end of antennae, forming multi-branched complex-type structures.
5. GnT V (MGAT5): Transfers GlcNAc to the β1,6 position of the mannose residue in the chitobiose core, leading to hybrid and complex-type N-glycans with bisecting GlcNAc.
6. GnT VI (MGAT6): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
7. GnT VII (MGAT7): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
8. GnT VIII (MGAT8): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
9. GnT IX (MGAT9): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
10. GnT X (MGAT10): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
11. GnT XI (MGAT11): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
12. GnT XII (MGAT12): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
13. GnT XIII (MGAT13): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
14. GnT XIV (MGAT14): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
15. GnT XV (MGAT15): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
16. GnT XVI (MGAT16): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
17. GnT XVII (MGAT17): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
18. GnT XVIII (MGAT18): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
19. GnT XIX (MGAT19): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
20. GnT XX (MGAT20): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
21. GnT XXI (MGAT21): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
22. GnT XXII (MGAT22): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
23. GnT XXIII (MGAT23): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
24. GnT XXIV (MGAT24): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
25. GnT XXV (MGAT25): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
26. GnT XXVI (MGAT26): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
27. GnT XXVII (MGAT27): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
28. GnT XXVIII (MGAT28): Adds GlcNAc to the α1,3 position of the mannose residue at the non-reducing end of antennae, forming a-linked poly-N-acetyllactosamine structures.
29. GnT XXIX (MGAT29): Transfers GlcNAc to the β1,6 position of the N-acetylglucosamine residue in complex-type N-glycans, forming i-antigen structures.
30. GnT XXX (MG

Retinal degeneration is a broad term that refers to the progressive loss of photoreceptor cells (rods and cones) in the retina, which are responsible for converting light into electrical signals that are sent to the brain. This process can lead to vision loss or blindness. There are many different types of retinal degeneration, including age-related macular degeneration, retinitis pigmentosa, and Stargardt's disease, among others. These conditions can have varying causes, such as genetic mutations, environmental factors, or a combination of both. Treatment options vary depending on the specific type and progression of the condition.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

The Fluorescent Antibody Technique (FAT) is a type of immunofluorescence assay used in laboratory medicine and pathology for the detection and localization of specific antigens or antibodies in tissues, cells, or microorganisms. In this technique, a fluorescein-labeled antibody is used to selectively bind to the target antigen or antibody, forming an immune complex. When excited by light of a specific wavelength, the fluorescein label emits light at a longer wavelength, typically visualized as green fluorescence under a fluorescence microscope.

The FAT is widely used in diagnostic microbiology for the identification and characterization of various bacteria, viruses, fungi, and parasites. It has also been applied in the diagnosis of autoimmune diseases and certain cancers by detecting specific antibodies or antigens in patient samples. The main advantage of FAT is its high sensitivity and specificity, allowing for accurate detection and differentiation of various pathogens and disease markers. However, it requires specialized equipment and trained personnel to perform and interpret the results.

"Intramuscular injections" refer to a medical procedure where a medication or vaccine is administered directly into the muscle tissue. This is typically done using a hypodermic needle and syringe, and the injection is usually given into one of the large muscles in the body, such as the deltoid (shoulder), vastus lateralis (thigh), or ventrogluteal (buttock) muscles.

Intramuscular injections are used for a variety of reasons, including to deliver medications that need to be absorbed slowly over time, to bypass stomach acid and improve absorption, or to ensure that the medication reaches the bloodstream quickly and directly. Common examples of medications delivered via intramuscular injection include certain vaccines, antibiotics, and pain relievers.

It is important to follow proper technique when administering intramuscular injections to minimize pain and reduce the risk of complications such as infection or injury to surrounding tissues. Proper site selection, needle length and gauge, and injection technique are all critical factors in ensuring a safe and effective intramuscular injection.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

Oxepins are organic compounds that contain a seven-membered ring with one oxygen atom and six carbon atoms. The structure of an oxepin is similar to that of benzene, but with one methine group (=CH−) replaced by an oxygen atom. This gives the oxepin ring a unique combination of aromaticity and reactivity, which makes it a subject of interest in organic chemistry and medicinal chemistry research.

Oxepins are relatively rare in nature, and they are not typically found in living organisms. However, some synthetic drugs contain an oxepin ring structure, and these compounds have been studied for their potential therapeutic uses. For example, some oxepin-containing drugs have been shown to have anti-inflammatory, antiviral, and antitumor properties.

It's worth noting that the term "oxepins" can also refer to a broader class of compounds that contain a seven-membered ring with one oxygen atom and any number of carbon atoms. However, in medical and pharmaceutical contexts, the term is most commonly used to refer specifically to the class of compounds described above.

A "reading frame" in genetics refers to the way nucleotides in DNA or RNA are grouped and read in multiples of three to form amino acids during protein synthesis. In other words, it is a continuous sequence of codons that starts with an initiation codon (usually AUG) and ends with a termination codon (UAA, UAG, or UGA).

There are three possible reading frames for every DNA or RNA sequence: one forward frame and two backward frames. In the forward frame, the sequence is read from the 5' end to the 3' end, while in the two backward frames, the sequence is read from the 3' end to the 5' end, but in a different register.

It is important to note that the genetic code is degenerate, meaning that most amino acids can be encoded by more than one codon. This means that a single change in the nucleotide sequence can shift the reading frame and result in a completely different protein sequence or even a premature stop codon, leading to truncated or nonfunctional proteins.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.

If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.

The neuromuscular junction (NMJ) is the specialized synapse or chemical communication point, where the motor neuron's nerve terminal (presynaptic element) meets the muscle fiber's motor end plate (postsynaptic element). This junction plays a crucial role in controlling muscle contraction and relaxation.

At the NMJ, the neurotransmitter acetylcholine is released from the presynaptic nerve terminal into the synaptic cleft, following an action potential. Acetylcholine then binds to nicotinic acetylcholine receptors on the postsynaptic membrane of the muscle fiber, leading to the generation of an end-plate potential. If sufficient end-plate potentials are generated and summate, they will trigger an action potential in the muscle fiber, ultimately causing muscle contraction.

Dysfunction at the neuromuscular junction can result in various neuromuscular disorders, such as myasthenia gravis, where autoantibodies attack acetylcholine receptors, leading to muscle weakness and fatigue.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

Disease progression is the worsening or advancement of a medical condition over time. It refers to the natural course of a disease, including its development, the severity of symptoms and complications, and the impact on the patient's overall health and quality of life. Understanding disease progression is important for developing appropriate treatment plans, monitoring response to therapy, and predicting outcomes.

The rate of disease progression can vary widely depending on the type of medical condition, individual patient factors, and the effectiveness of treatment. Some diseases may progress rapidly over a short period of time, while others may progress more slowly over many years. In some cases, disease progression may be slowed or even halted with appropriate medical interventions, while in other cases, the progression may be inevitable and irreversible.

In clinical practice, healthcare providers closely monitor disease progression through regular assessments, imaging studies, and laboratory tests. This information is used to guide treatment decisions and adjust care plans as needed to optimize patient outcomes and improve quality of life.

In anatomical terms, the shoulder refers to the complex joint of the human body that connects the upper limb to the trunk. It is formed by the union of three bones: the clavicle (collarbone), scapula (shoulder blade), and humerus (upper arm bone). The shoulder joint is a ball-and-socket type of synovial joint, allowing for a wide range of movements such as flexion, extension, abduction, adduction, internal rotation, and external rotation.

The shoulder complex includes not only the glenohumeral joint but also other structures that contribute to its movement and stability, including:

1. The acromioclavicular (AC) joint: where the clavicle meets the acromion process of the scapula.
2. The coracoclavicular (CC) ligament: connects the coracoid process of the scapula to the clavicle, providing additional stability to the AC joint.
3. The rotator cuff: a group of four muscles (supraspinatus, infraspinatus, teres minor, and subscapularis) that surround and reinforce the shoulder joint, contributing to its stability and range of motion.
4. The biceps tendon: originates from the supraglenoid tubercle of the scapula and passes through the shoulder joint, helping with flexion, supination, and stability.
5. Various ligaments and capsular structures that provide additional support and limit excessive movement in the shoulder joint.

The shoulder is a remarkable joint due to its wide range of motion, but this also makes it susceptible to injuries and disorders such as dislocations, subluxations, sprains, strains, tendinitis, bursitis, and degenerative conditions like osteoarthritis. Proper care, exercise, and maintenance are essential for maintaining shoulder health and function throughout one's life.

Retinitis pigmentosa (RP) is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina - a light-sensitive tissue located at the back of the eye. The retina converts light into electrical signals which are then sent to the brain and interpreted as visual images.

In RP, the cells that detect light (rods and cones) degenerate more slowly than other cells in the retina, leading to a progressive loss of vision. Symptoms typically begin in childhood with night blindness (difficulty seeing in low light), followed by a gradual narrowing of the visual field (tunnel vision). Over time, this can lead to significant vision loss and even blindness.

The condition is usually inherited and there are several different genes that have been associated with RP. The diagnosis is typically made based on a combination of genetic testing, family history, and clinical examination. Currently, there is no cure for RP, but researchers are actively working to develop new treatments that may help slow or stop the progression of the disease.

Distal myopathies are a group of rare genetic muscle disorders that primarily affect the muscles of the hands, feet, and lower legs. These myopathies are characterized by progressive weakness and wasting (atrophy) of the distal muscles, which are located further from the center of the body. The onset of symptoms can vary widely, ranging from early childhood to late adulthood.

There are several different types of distal myopathies, each caused by mutations in specific genes that affect muscle function. Some common forms include:

1. Nonaka Distal Myopathy: This form is caused by mutations in the GNE gene and typically presents in the third or fourth decade of life with weakness and wasting of the ankle dorsiflexors, foot extensors, and wrist and finger extensors.

2. Miyoshi Distal Myopathy: This form is caused by mutations in the DYSF gene and affects the calf muscles initially, followed by weakness in other distal muscles over time.

3. Welander Distal Myopathy: This form is caused by mutations in the TIA1 gene and typically presents in adulthood with weakness and wasting of the hand and forearm muscles.

4. Laing Distal Myopathy: This form is caused by mutations in the CAV3 gene and affects the anterior compartment of the lower leg, resulting in foot drop and weakness of the ankle dorsiflexors.

5. Gowers Distal Myopathy: This form is caused by mutations in the HNRNPDL gene and typically presents in adulthood with weakness and wasting of the hand and forearm muscles, as well as foot drop.

There is no cure for distal myopathies, but treatment can help manage symptoms and improve quality of life. Physical therapy, bracing, and orthotics may be used to support weakened muscles and maintain mobility. In some cases, medications such as corticosteroids or immunosuppressants may be prescribed to reduce muscle inflammation and slow disease progression.

The nuclear envelope is a complex and double-membrane structure that surrounds the eukaryotic cell's nucleus. It consists of two distinct membranes: the outer nuclear membrane, which is continuous with the endoplasmic reticulum (ER) membrane, and the inner nuclear membrane, which is closely associated with the chromatin and nuclear lamina.

The nuclear envelope serves as a selective barrier between the nucleus and the cytoplasm, controlling the exchange of materials and information between these two cellular compartments. Nuclear pore complexes (NPCs) are embedded in the nuclear envelope at sites where the inner and outer membranes fuse, forming aqueous channels that allow for the passive or active transport of molecules, such as ions, metabolites, and RNA-protein complexes.

The nuclear envelope plays essential roles in various cellular processes, including DNA replication, transcription, RNA processing, and chromosome organization. Additionally, it is dynamically regulated during the cell cycle, undergoing disassembly and reformation during mitosis to facilitate equal distribution of genetic material between daughter cells.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Gene transfer techniques, also known as gene therapy, refer to medical procedures where genetic material is introduced into an individual's cells or tissues to treat or prevent diseases. This can be achieved through various methods:

1. **Viral Vectors**: The most common method uses modified viruses, such as adenoviruses, retroviruses, or lentiviruses, to carry the therapeutic gene into the target cells. The virus infects the cell and inserts the new gene into the cell's DNA.

2. **Non-Viral Vectors**: These include methods like electroporation (using electric fields to create pores in the cell membrane), gene guns (shooting gold particles coated with DNA into cells), or liposomes (tiny fatty bubbles that can enclose DNA).

3. **Direct Injection**: In some cases, the therapeutic gene can be directly injected into a specific tissue or organ.

The goal of gene transfer techniques is to supplement or replace a faulty gene with a healthy one, thereby correcting the genetic disorder. However, these techniques are still largely experimental and have their own set of challenges, including potential immune responses, issues with accurate targeting, and risks of mutations or cancer development.

A transgene is a segment of DNA that has been artificially transferred from one organism to another, typically between different species, to introduce a new trait or characteristic. The term "transgene" specifically refers to the genetic material that has been transferred and has become integrated into the host organism's genome. This technology is often used in genetic engineering and biomedical research, including the development of genetically modified organisms (GMOs) for agricultural purposes or the creation of animal models for studying human diseases.

Transgenes can be created using various techniques, such as molecular cloning, where a desired gene is isolated, manipulated, and then inserted into a vector (a small DNA molecule, such as a plasmid) that can efficiently enter the host organism's cells. Once inside the cell, the transgene can integrate into the host genome, allowing for the expression of the new trait in the resulting transgenic organism.

It is important to note that while transgenes can provide valuable insights and benefits in research and agriculture, their use and release into the environment are subjects of ongoing debate due to concerns about potential ecological impacts and human health risks.

Deoxyribonuclease (DNase) HindIII is a type of enzyme that cleaves, or cuts, DNA at specific sequences. The name "HindIII" refers to the fact that this particular enzyme was first isolated from the bacterium Haemophilus influenzae strain Rd (Hin) and it cuts at the restriction site 5'-A/AGCTT-3'.

DNase HindIII recognizes and binds to the palindromic sequence "AAGCTT" in double-stranded DNA, and then cleaves each strand of the DNA molecule at specific points within that sequence. This results in the production of two fragments of DNA with sticky ends: 5'-phosphate and 3'-hydroxyl groups. These sticky ends can then be joined together by another enzyme, DNA ligase, to form new combinations of DNA molecules.

DNase HindIII is widely used in molecular biology research for various purposes, such as restriction mapping, cloning, and genetic engineering. It is also used in diagnostic tests to detect specific sequences of DNA in clinical samples.

Projective techniques are psychological tests used in clinical and experimental settings to assess an individual's personality, emotions, and motivations by tapping into their unconscious thoughts and perceptions. These methods present ambiguous stimuli, such as inkblots or pictures, to the subject, who is then asked to describe or interpret them. The theory behind projective techniques posits that individuals will unconsciously project their inner experiences and feelings onto these ambiguous stimuli, revealing aspects of their personality that may not be accessible through more structured testing methods. However, it's important to note that the interpretation of results from projective techniques can be subjective and may vary based on the training and expertise of the practitioner.

Respiratory muscles are a group of muscles involved in the process of breathing. They include the diaphragm, intercostal muscles (located between the ribs), scalene muscles (located in the neck), and abdominal muscles. These muscles work together to allow the chest cavity to expand or contract, which draws air into or pushes it out of the lungs. The diaphragm is the primary muscle responsible for breathing, contracting to increase the volume of the chest cavity and draw air into the lungs during inhalation. The intercostal muscles help to further expand the ribcage, while the abdominal muscles assist in exhaling by compressing the abdomen and pushing up on the diaphragm.

Mazindol is a prescription medication that belongs to a class of drugs known as sympathomimetic amines or anorectics. It has been used in the treatment of obesity, as it works by reducing appetite and increasing the amount of energy that the body uses. Mazindol affects certain chemicals in the brain that control appetite.

It's important to note that mazindol is not commonly used today due to its potential for abuse and serious side effects. It should only be used under the close supervision of a healthcare provider, and its use is typically reserved for individuals with severe obesity who have not responded to other treatment options.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

Caveolins are a group of proteins that are the main structural components of caveolae, which are small invaginations or "caves" found in the plasma membrane of many cell types. These proteins play important roles in various cellular processes such as endocytosis, cholesterol homeostasis, and signal transduction.

There are three main caveolin isoforms: caveolin-1, caveolin-2, and caveolin-3. Caveolin-1 is the most well-studied and is expressed in many cell types, while caveolin-2 and caveolin-3 have more restricted expression patterns. Caveolin-1 and caveolin-2 are co-expressed in many cells and can form hetero-oligomers, while caveolin-3 primarily forms homo-oligomers.

Caveolins have a number of functional domains that allow them to interact with various proteins and lipids. For example, the C-terminal domain of caveolin-1 contains a binding site for cholesterol, which helps to regulate the formation and stability of caveolae. Additionally, the N-terminal domain of caveolin-1 contains a binding site for various signaling proteins, allowing it to act as a scaffolding protein that organizes signaling complexes within caveolae.

Mutations in caveolin genes have been associated with several human diseases, including muscular dystrophy, cardiovascular disease, and cancer.

RNA splicing is a post-transcriptional modification process in which the non-coding sequences (introns) are removed and the coding sequences (exons) are joined together in a messenger RNA (mRNA) molecule. This results in a continuous mRNA sequence that can be translated into a single protein. Alternative splicing, where different combinations of exons are included or excluded, allows for the creation of multiple proteins from a single gene.

A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.

In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.

In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.

Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.

MyoD protein is a member of the family of muscle regulatory factors (MRFs) that play crucial roles in the development and regulation of skeletal muscle. MyoD is a transcription factor, which means it binds to specific DNA sequences and helps control the transcription of nearby genes into messenger RNA (mRNA).

MyoD protein is encoded by the MYOD1 gene and is primarily expressed in skeletal muscle cells, where it functions as a master regulator of muscle differentiation. During myogenesis, MyoD is activated and initiates the expression of various genes involved in muscle-specific functions, such as contractile proteins and ion channels.

MyoD protein can also induce cell cycle arrest and promote the differentiation of non-muscle cells into muscle cells, a process known as transdifferentiation. This property has been explored in regenerative medicine for potential therapeutic applications.

In summary, MyoD protein is a key regulator of skeletal muscle development, differentiation, and maintenance, and it plays essential roles in the regulation of gene expression during myogenesis.

Alternative splicing is a process in molecular biology that occurs during the post-transcriptional modification of pre-messenger RNA (pre-mRNA) molecules. It involves the removal of non-coding sequences, known as introns, and the joining together of coding sequences, or exons, to form a mature messenger RNA (mRNA) molecule that can be translated into a protein.

In alternative splicing, different combinations of exons are selected and joined together to create multiple distinct mRNA transcripts from a single pre-mRNA template. This process increases the diversity of proteins that can be produced from a limited number of genes, allowing for greater functional complexity in organisms.

Alternative splicing is regulated by various cis-acting elements and trans-acting factors that bind to specific sequences in the pre-mRNA molecule and influence which exons are included or excluded during splicing. Abnormal alternative splicing has been implicated in several human diseases, including cancer, neurological disorders, and cardiovascular disease.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Epidermolysis Bullosa Simplex (EBS) is a group of genetic skin disorders characterized by the development of blisters and erosions on the skin following minor trauma or friction. It is caused by mutations in genes that encode proteins responsible for anchoring the epidermis (outer layer of the skin) to the dermis (inner layer of the skin).

There are several subtypes of EBS, which vary in severity and clinical presentation. The most common form is called "Dowling-Meara" EBS, which is characterized by blistering at or near birth, widespread blistering, and scarring. Other forms of EBS include "Weber-Cockayne" EBS, which is characterized by localized blistering and healing with minimal scarring, and "Kobner" EBS, which is characterized by blistering in response to heat or physical trauma.

Treatment for EBS typically involves wound care, prevention of infection, and pain management. In some cases, protein therapy or bone marrow transplantation may be considered as a treatment option. It's important to note that the prognosis for individuals with EBS varies depending on the severity and subtype of the disorder.

Gene expression is the process by which the information encoded in a gene is used to synthesize a functional gene product, such as a protein or RNA molecule. This process involves several steps: transcription, RNA processing, and translation. During transcription, the genetic information in DNA is copied into a complementary RNA molecule, known as messenger RNA (mRNA). The mRNA then undergoes RNA processing, which includes adding a cap and tail to the mRNA and splicing out non-coding regions called introns. The resulting mature mRNA is then translated into a protein on ribosomes in the cytoplasm through the process of translation.

The regulation of gene expression is a complex and highly controlled process that allows cells to respond to changes in their environment, such as growth factors, hormones, and stress signals. This regulation can occur at various stages of gene expression, including transcriptional activation or repression, RNA processing, mRNA stability, and translation. Dysregulation of gene expression has been implicated in many diseases, including cancer, genetic disorders, and neurological conditions.

Southern blotting is a type of membrane-based blotting technique that is used in molecular biology to detect and locate specific DNA sequences within a DNA sample. This technique is named after its inventor, Edward M. Southern.

In Southern blotting, the DNA sample is first digested with one or more restriction enzymes, which cut the DNA at specific recognition sites. The resulting DNA fragments are then separated based on their size by gel electrophoresis. After separation, the DNA fragments are denatured to convert them into single-stranded DNA and transferred onto a nitrocellulose or nylon membrane.

Once the DNA has been transferred to the membrane, it is hybridized with a labeled probe that is complementary to the sequence of interest. The probe can be labeled with radioactive isotopes, fluorescent dyes, or chemiluminescent compounds. After hybridization, the membrane is washed to remove any unbound probe and then exposed to X-ray film (in the case of radioactive probes) or scanned (in the case of non-radioactive probes) to detect the location of the labeled probe on the membrane.

The position of the labeled probe on the membrane corresponds to the location of the specific DNA sequence within the original DNA sample. Southern blotting is a powerful tool for identifying and characterizing specific DNA sequences, such as those associated with genetic diseases or gene regulation.

The Stanford-Binet Test is a widely used, individually administered intelligence test that was revised from the original Binet-Simon Scale by Lewis Terman at Stanford University in 1916. It is designed to measure various cognitive abilities and intelligence across a broad age range, from early childhood to adulthood. The test assesses five factors of cognitive ability: fluid reasoning, knowledge, quantitative reasoning, visual-spatial processing, and working memory.

The Stanford-Binet Test consists of several subtests that measure different skills and abilities. It yields a composite score, called the Intelligence Quotient (IQ), which is a ratio of mental age to chronological age, multiplied by 100. The test also provides detailed information about an individual's strengths and weaknesses in various areas of cognitive functioning.

Over the years, the Stanford-Binet Test has undergone several revisions to improve its psychometric properties, update its content, and reflect current theories of intelligence. The most recent version, the Stanford-Binet Fifth Edition (SB5), was published in 2003 and includes updated norms, a broader age range (2-85+ years), and a more comprehensive assessment of cognitive abilities.

The Stanford-Binet Test is used for various purposes, including identifying individuals who may have intellectual disabilities or giftedness, educational planning, career counseling, and research. It is considered a reliable and valid measure of intelligence, but like all psychological tests, it should be administered and interpreted by trained professionals who are aware of its limitations and potential sources of bias.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

Cardiotoxins are substances or drugs that have a toxic effect on the heart muscle (myocardium), leading to impaired cardiac function and potentially causing serious complications such as arrhythmias, reduced contractility, and decreased cardiac output. Cardiotoxins can be found in certain animals, plants, and medications.

Animal-derived cardiotoxins include some venoms from snakes, spiders, and scorpions. For example, the venom of the Australian taipan snake contains a powerful cardiotoxin that can cause rapid heart rate, low blood pressure, and even cardiac arrest in severe cases.

Plant-derived cardiotoxins are found in some species of digitalis (foxglove), which have been used traditionally to treat heart conditions but can also be toxic if not administered correctly. The active compounds in digitalis, such as digoxin and digitoxin, affect the electrical activity of the heart by inhibiting the sodium-potassium pump in cardiac muscle cells, leading to increased contractility and potentially causing arrhythmias.

Medications can also have cardiotoxic effects when used inappropriately or at high doses. Certain chemotherapeutic agents, such as doxorubicin and daunorubicin, are known to cause cardiac damage and dysfunction, particularly with long-term use or when administered in high cumulative doses. These drugs can lead to a condition called "chemotherapy-induced cardiomyopathy," which is characterized by reduced heart function and increased risk of congestive heart failure.

Other medications that may have cardiotoxic effects include certain antibiotics (such as erythromycin, clarithromycin, and azithromycin), antifungal agents (such as amphotericin B), and illicit drugs (such as cocaine and methamphetamine).

It is essential to use cardiotoxic substances with caution and under the supervision of a healthcare professional, as improper use or overexposure can lead to severe heart complications.

Phosphodiesterase 5 (PDE5) inhibitors are a class of medications that work by blocking the phosphodiesterase enzyme, specifically PDE5, which is found in the smooth muscle cells lining the blood vessels of the penis. By inhibiting this enzyme, PDE5 inhibitors increase the levels of cyclic guanosine monophosphate (cGMP), a molecule that relaxes these smooth muscles and allows for increased blood flow into the corpus cavernosum of the penis, leading to an erection.

PDE5 inhibitors are commonly used in the treatment of erectile dysfunction (ED) and include medications such as sildenafil (Viagra), tadalafil (Cialis), vardenafil (Levitra), and avanafil (Stendra). These medications are usually taken orally, and their effects can last for several hours. It is important to note that PDE5 inhibitors only work in the presence of sexual stimulation, and they do not increase sexual desire or arousal on their own.

In addition to their use in ED, PDE5 inhibitors have also been shown to be effective in the treatment of pulmonary arterial hypertension (PAH) by relaxing the smooth muscle cells in the blood vessels of the lungs and reducing the workload on the heart.

Neuromuscular blockade (NMB) is a pharmacological state in which the communication between nerves and muscles is interrupted by blocking the neuromuscular junction, thereby preventing muscle contraction. This condition can be achieved through the use of certain medications called neuromuscular blocking agents (NMBAs). These drugs are commonly used during surgical procedures to facilitate endotracheal intubation, mechanical ventilation, and to prevent patient movement and minimize potential injury during surgery. NMBs are classified into two main categories based on their mechanism of action: depolarizing and non-depolarizing agents.

Depolarizing neuromuscular blocking agents, such as succinylcholine, work by activating the nicotinic acetylcholine receptors at the neuromuscular junction, causing a sustained depolarization and muscle contraction followed by flaccid paralysis. Non-depolarizing neuromuscular blocking agents, such as rocuronium, vecuronium, pancuronium, and atracurium, bind to the receptors without activating them, thereby preventing acetylcholine from binding and transmitting the signal for muscle contraction.

Clinical monitoring of neuromuscular blockade is essential to ensure proper dosing and avoid complications such as residual curarization, which can lead to respiratory compromise in the postoperative period. Monitoring techniques include peripheral nerve stimulation and train-of-four (TOF) assessment to evaluate the depth of neuromuscular blockade and guide the administration of reversal agents when appropriate.

A contracture, in a medical context, refers to the abnormal shortening and hardening of muscles, tendons, or other tissue, which can result in limited mobility and deformity of joints. This condition can occur due to various reasons such as injury, prolonged immobilization, scarring, neurological disorders, or genetic conditions.

Contractures can cause significant impairment in daily activities and quality of life, making it difficult for individuals to perform routine tasks like dressing, bathing, or walking. Treatment options may include physical therapy, splinting, casting, medications, surgery, or a combination of these approaches, depending on the severity and underlying cause of the contracture.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

Necrosis is the premature death of cells or tissues due to damage or injury, such as from infection, trauma, infarction (lack of blood supply), or toxic substances. It's a pathological process that results in the uncontrolled and passive degradation of cellular components, ultimately leading to the release of intracellular contents into the extracellular space. This can cause local inflammation and may lead to further tissue damage if not treated promptly.

There are different types of necrosis, including coagulative, liquefactive, caseous, fat, fibrinoid, and gangrenous necrosis, each with distinct histological features depending on the underlying cause and the affected tissues or organs.

"Duchenne muscular dystrophy (DMD) , Muscular Dystrophy Campaign". Muscular-dystrophy.org. Archived from the original on 21 ... Muscular Dystrophy, Duchenne Type; DMD - 310200 Vera CD, Zhang A, Pang PD, Wu JC (2022). "Treating Duchenne Muscular Dystrophy ... Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually ... Biostrophin is a delivery vector for gene therapy in the treatment of Duchenne muscular dystrophy and Becker muscular dystrophy ...
Devices to help a person with duchenne muscular dystrophy stand are a common treatment approach. Orthotic devices are used (as ... The goal of physical and occupational therapy in Duchenne muscular dystrophy is to obtain a clear understanding of the ... Stone, K; Tester, C; Howarth, A; Johnston, R; Traynor, N; McAndrew (2007). Occupational therapy and Duchenne muscular dystrophy ... Kinali, M; Manzur, AY; Muntoni, F (2008). "Recent developments in the management of Duchenne muscular dystrophy". Paediatrics ...
"Duchenne Muscular Dystrophy. What is muscular dystrophy? , Patient". Patient.info. 2016-04-15. Archived from the original on ... Fukuyama congenital muscular dystrophy Muscle hypertrophy Muscular Dystrophy UK Muscular Dystrophy Association (United States) ... Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and ... Over 30 different disorders are classified as muscular dystrophies. Of those, Duchenne muscular dystrophy (DMD) accounts for ...
"Duchenne muscular dystrophy". Nature Reviews Disease Primers. 7. Fuente-Mora, Cristina; Kauffman, Horacio; Mendoza-Santiesteban ... Some conditions which may cause secondary scoliosis include muscular dystrophy, spinal muscular atrophy, poliomyelitis, ... muscular dystrophy, familial dysautonomia, CHARGE syndrome, Ehlers-Danlos syndrome (hyper-flexibility, "floppy baby" syndrome, ... "Muscular Imbalance: Why Does Scoliosis Create One Weak Side?". www.scoliosissos.com. Scoliosis SOS Clinic. 28 August 2017. ...
"Duchenne muscular dystrophy drug could get OK for U.S. sales in 2016". chicagotribune.com. "Duchenne muscular dystrophy". ... Muscular Dystrophy News. Mangan, Meg Tirrell, Dan (2017-02-13). "Marathon 'pauses' launch of $89,000 muscular dystrophy drug in ... to treat Duchenne muscular dystrophy, a rare disease that affects approximately 15,000 young boys in the U.S. Prior to the FDA ... Duchenne muscular dystrophy drug could get OK for U.S. sales in 2016, The Chicago Tribune, retrieved February 13, 2017, has ...
Duchenne muscular dystrophy. Caused by SVA transposable element insertion in the fukutin (FKTN) gene which renders the gene ...
"Jesse's Journey , Canada". Duchenne Muscular Dystrophy , Jesse's Journey. The Essentials' Myspace site The Essentials at IMDb ( ... charity compilation for Jesse's Journey in support of Duchenne muscular dystrophy, includes a contribution from Beverley Mahood ...
... putting it in the three most common muscular dystrophies with myotonic dystrophy and Duchenne muscular dystrophy. Prognosis is ... In 1868, Duchenne published his seminal work on Duchenne muscular dystrophy, and as part of its differential was a description ... Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause ... Huml, Raymond A.; Perez, Daniel P. (2015). "FSHD: The Most Common Type of Muscular Dystrophy?". Muscular Dystrophy. pp. 9-19. ...
ABCC2 Duchenne muscular dystrophy; 310200; DMD Dyggve-Melchior-Clausen disease; 223800; DYM Dysautonomia, familial; 223900; ... LAMA2 Muscular dystrophy, limb-girdle, type 1A; 159000; TTID Muscular dystrophy, limb-girdle, type 1B; 159001; LMNA Muscular ... CAPN3 Muscular dystrophy, limb-girdle, type 2B; 253601; DYSF Muscular dystrophy, limb-girdle, type 2C; 253700; SGCG Muscular ... SGCA Muscular dystrophy, limb-girdle, type 2E; 604286; SGCB Muscular dystrophy, limb-girdle, type 2F; 601287; SGCD Muscular ...
"About Duchenne Muscular Dystrophy". Genome.gov. Retrieved 2020-04-30. Strakova J, Dean JD, Sharpe KM, Meyers TA, Odom GL, ... In human, the Duchenne muscular dystrophy is a well-known muscle disease which highlights the importance of dystrophin/ ... Duchenne muscular dystrophy (DMD) is a fatal progressive disease of both cardiac and skeletal muscle resulting from the ... The lack of dystrophin that causes Duchenne muscular dystrophy results in secondary loss of other dystrophin-complex components ...
and Duchenne muscular dystrophy. A preclinical study produced early results suggesting the molecule might help with diastolic ...
... is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene ... The progression of Becker muscular dystrophy is highly variable-much more so than Duchenne muscular dystrophy. There is also a ... In terms of the diagnosis of Becker muscular dystrophy symptom development resembles that of Duchenne muscular dystrophy. A ... Becker muscular dystrophy at Curlie Scholia has a topic profile for Becker muscular dystrophy. (CS1 errors: missing periodical ...
... is indicated for the treatment of Duchenne muscular dystrophy (DMD) in people who have a confirmed mutation of the ... Golodirsen, sold under the brand name Vyondys 53, is a medication used for the treatment of Duchenne muscular dystrophy (DMD). ... Golodirsen is one of the very few FDA-approved exon-skipping therapy for Duchenne muscular dystrophy (DMD), although the ... "FDA grants accelerated approval to first targeted treatment for rare Duchenne muscular dystrophy mutation". U.S. Food and Drug ...
Duchenne muscular dystrophy is caused when a mutation in the DMD gene changes the DMD mRNA so that it no longer codes for ... Eteplirsen (brand name Exondys 51) is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), ... Pollack, Andrew (2016-04-25). "Advisers to F.D.A. Vote Against Duchenne Muscular Dystrophy Drug". The New York Times. Column: ... Lim KR, Maruyama R, Yokota T (2017). "Eteplirsen in the treatment of Duchenne muscular dystrophy". Drug Design, Development and ...
He has Duchenne muscular dystrophy. Peška won the International Paralympic Committee's Best Male Debut Athlete at the 2021 ... People with muscular dystrophy, All stub articles, Czech sportspeople stubs). ...
Dalo has Duchenne muscular dystrophy. Dalo was the first Palestinian to open an anime exhibition. "The art of living with ... "ARTIST WITH MUSCULAR DYSTROPHY DOES ANIME ART". ablethrive.com. 8 January 2017. Retrieved 1 January 2020. "The art of living ...
Guillaume Duchenne describes Duchenne muscular dystrophy. Prosper Ménière reports the association of vertigo with inner ear ... "Guillaume Benjamin Amand Duchenne de Boulogne". WhoNamedIt?. Archived from the original on 2011-05-25. Retrieved 2011-05-27. ...
The term was used by Duchenne de Boulogne in his description of Duchenne muscular dystrophy in one of his works "paralysie ... Cros, D; Harnden, P; Pellissier, JF; Serratrice, G (January 1989). "Muscle hypertrophy in Duchenne muscular dystrophy. A ... famously in Duchenne muscular dystrophy. This is in contrast with typical muscle hypertrophy, in which the muscle tissue itself ... "Pseudohypertrophy" of Muscle in Progressive Muscular Dystrophy and Other Neuromuscular Diseases". Archives of Neurology & ...
"Hope For Gus Foundation , Funding Research for Duchenne Muscular Dystrophy". hopeforgus.org. "Make-A-Wish® Illinois". Make-A- ... 1,385,273 to fund research to find a cure for Duchenne Muscular Dystrophy. This remains the highest total ever raised for the ...
He died from Duchenne muscular dystrophy. After his death, the "Darwin Ramos Association" requested in 2018 to Honesto Ongtioco ... The initial symptoms of what later would be diagnosed as Duchenne muscular dystrophy appeared. This began as weakness in the ... People with muscular dystrophy, Filipino people with disabilities, People from Pasay, Street children, Tagalog people). ...
Pradhan, S (June 2004). "Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy". ... He has also described five medical signs, of which one related to Duchenne muscular dystrophy is known as Pradhan Sign, and the ... Pradhan sign or Valley sign: The first of the signs he discovered is related to Duchenne muscular dystrophy (DMD). He ... Pradhan, Sunil (November 1994). "New clinical sign in Duchenne muscular dystrophy". Pediatric Neurology. 11 (4): 298-300. doi: ...
Blau, H. M.; Webster, C.; Pavlath, G. K. (1983-08-01). "Defective myoblasts identified in Duchenne muscular dystrophy". ... "Short telomeres and stem cell exhaustion model Duchenne muscular dystrophy in mdx/mTR mice". Cell. 143 (7): 1059-1071. doi: ... "Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy". Nature Cell Biology. 15 (8): 895-904. doi: ... Blau characterized muscle stem cells and showed they are dysfunctional in aging and in muscular dystrophy. She showed that stem ...
The most common form is known as Duchenne muscular dystrophy (DMD). DMD is usually discovered in early childhood and is most ... Many forms of muscular dystrophy are associated with disorders of the dystrophin-associated protein complex. Muscular dystrophy ... Wagner KR, Lechtzin N, Judge DP (February 2007). "Current treatment of adult Duchenne muscular dystrophy". Biochimica et ... April 2017). "The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review". Orphanet ...
... and create a phenotype similar to the less severe Becker muscular dystrophy (BMD). In the case of Duchenne muscular dystrophy, ... Exon skipping is being heavily researched for the treatment of Duchenne muscular dystrophy (DMD), where the muscular protein ... In Duchenne muscular dystrophy, the genetic mutation is out-of-frame. Out-of-frame mutations cause a premature stop in protein ... "FDA grants accelerated approval to first targeted treatment for rare Duchenne muscular dystrophy mutation". U.S. Food and Drug ...
Muscular Dystrophy Association. 2015-12-18. Retrieved 2019-04-16. "OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; ... "Orphanet: Congenital muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "Corneal dystrophy and perceptive deafness - ... "Orphanet: Autosomal dominant limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "'MEDNIK': A novel genetic ... "Orphanet: Autosomal recessive limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. " ...
Duchenne muscular dystrophy Patrick G (2019-10-10). "Introduction". Introduction, Medicinal Chemistry. pp. 2-3. doi:10.1201/ ...
Hilton T, Orr RD, Perkin RM, Ashwal S (May 1993). "End of life care in Duchenne muscular dystrophy". Pediatric Neurology. 9 (3 ...
He had first met Darius' brother Mario, who was himself suffering from Duchenne muscular dystrophy. Mario asked Logan to "look ... The film revolves around Darius Weems, a teenager with Duchenne muscular dystrophy, who, because of his disease, had never left ... "Disability Rights Activist Dies of Duchenne Muscular Dystrophy". 2016-10-11. Bashir, Martin (February 18, 2007). "Bashir: ' ... a teenager living with Duchenne muscular dystrophy. In the middle of 2005 Weems embarked on a 7,000 mile road trip across the ...
Duchenne muscular dystrophy". Gene Therapy. 13 (24): 1677-85. doi:10.1038/sj.gt.3302877. PMID 17066097. "1990 The Declaration ... and muscular dystrophy. These treatments only affect somatic cells, which means that any changes would not be inheritable. ... "Skeletal plasticity in response to embryonic muscular activity underlies the development and evolution of the perching digit of ...
Roshmi, R. R.; Yokota, T. (October 2019). "Viltolarsen for the treatment of Duchenne muscular dystrophy". Drugs of Today. 55 ( ... Other Morpholino-based drugs golodirsen, viltolarsen, and casimersen (also for Duchenne muscular dystrophy) were approved by ... "Press Announcements - FDA grants accelerated approval to first drug for Duchenne muscular dystrophy". Food and Drug ... including uptake into muscle cells with Duchenne muscular dystrophy or the vascular endothelial cells stressed during balloon ...
"Duchenne muscular dystrophy (DMD) , Muscular Dystrophy Campaign". Muscular-dystrophy.org. Archived from the original on 21 ... Muscular Dystrophy, Duchenne Type; DMD - 310200 Vera CD, Zhang A, Pang PD, Wu JC (2022). "Treating Duchenne Muscular Dystrophy ... Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually ... Biostrophin is a delivery vector for gene therapy in the treatment of Duchenne muscular dystrophy and Becker muscular dystrophy ...
Duchenne muscular dystrophy is an inherited disorder. It involves muscle weakness, which quickly gets worse. ... Duchenne muscular dystrophy is an inherited disorder. It involves muscle weakness, which quickly gets worse. ... Duchenne muscular dystrophy is a form of muscular dystrophy. It worsens quickly. Other muscular dystrophies (including Becker ... Muscular Dystrophy Association website. Duchenne muscular dystorphy. www.mda.org/disease/duchenne-muscular-dystrophy. Accessed ...
Duchenne Muscular Dystrophy Gene Therapy Safe, Effective at 4 Years * Catalent Sees Weight-Loss Drugs Boom Driving Bookings ... Cite this: FDA Okays Drug for Duchenne Muscular Dystrophy - Medscape - Oct 27, 2023. ... for the treatment of Duchenne muscular dystrophy (DMD) in patients as young as age 2 years, the company has announced. ... chief research officer for the Muscular Dystrophy Association (MDA), said in a statement. ...
If your child has been diagnosed with Duchenne muscular dystrophy (DMD), learn how to help your child adjust, navigate ... Duchenne Muscular Dystrophy. Learn the symptoms, causes, risks and more of Duchenne muscular dystrophy, a genetic condition ... More in Navigating Duchenne Muscular Dystrophy. *. Whats the Difference Between Muscular Dystrophy and Multiple Sclerosis? ... How to explain muscular dystrophy to a child. A discussion about muscular dystrophy can center around topics that relate to ...
To investigate the natural course of the spinal deformity in Duchenne muscular dystrophy (DMD) and its clinical relevance, ... Longitudinal study of spinal deformity in Duchenne muscular dystrophy J Pediatr Orthop. 1993 Jul-Aug;13(4):478-88. doi: 10.1097 ... To investigate the natural course of the spinal deformity in Duchenne muscular dystrophy (DMD) and its clinical relevance, ...
Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central ... Congenital Muscular Dystrophy. In 2010, the International Standard of Care Committee for Congenital Muscular Dystrophy ... encoded search term (Muscular Dystrophy) and Muscular Dystrophy What to Read Next on Medscape ... Gene therapy for Duchenne muscular dystrophy: AAV leads the way. Acta Myol. 2005 Dec. 24 (3):184-93. [QxMD MEDLINE Link]. ...
One very promising area for gene therapy is in the muscle-wasting disease Duchenne Muscular Dystrophy... ... One very promising area for gene therapy is in the muscle-wasting disease Duchenne Muscular Dystrophy, which affects about one ... Sue - Duchenne M.D. is an inherited muscle wasting disease that is usually evident in affected boys around two to five years of ... This is unprecedented in a boy with Duchenne.. Chris - Indeed because Ive actually met Billy, because you brought him to ...
A combination of blood tests and genetic testing is usually sufficient for diagnosing Duchenne muscular dystrophy. ... Duchenne Muscular Dystrophy (DMD). Muscular Dystrophy Association. June 13, 2020.. What Is Duchenne Muscular Dystrophy? Parent ... Duchenne Muscular Dystrophy in Children. Cedars Sinai. June 13, 2020.. Duchenne Muscular Dystrophy. Johns Hopkins Medicine. ... How Is Duchenne Muscular Dystrophy Diagnosed?. After initial blood tests, your doctor will order a genetic test for Duchenne if ...
... Muscle Nerve. 2013 Jan;47(1):124-7. ... Muscular Dystrophy, Duchenne / complications* * Muscular Dystrophy, Duchenne / genetics * Muscular Dystrophy, Duchenne / ... but her family history was significant for a son who died of Duchenne muscular dystrophy (DMD). Genetic analysis of DMD ...
UR Medicine / Neurology / Our Divisions / Neuromuscular Disease Center / Clinics / Duchenne Muscular Dystrophy Clinic / Videos ... Duchennes Muscular Dystrophy: A Brief Introduction for Young Patients and Their Families. ... Emma Ciafaloni, a neurologist and expert in Muscular Dystrophy. After an initial consultation, Jared was sent for blood work. ... The University of Rochester Medical Center is home to one of three original Muscular Dystrophy Cooperative Research Centers set ...
... care and advocacy for people living with muscular dystrophy, ALS, and related neuromuscular diseases. ... Care Considerations for Duchenne muscular dystrophy were published in 2018.. *Diagnosis and management of Duchenne muscular ... JR, M. et al. Randomized, double-blind six-month trial of prednisone in Duchennes muscular dystrophy. in New England journal ... Biggar, W. D. et al. Deflazacort in Duchenne muscular dystrophy: A comparison of two different protocols. Neuromuscul. Disord. ...
... analysis was applied to the spectral dataset acquired from blood serum of a mouse model of Duchenne muscular dystrophy (mdx) ... is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. Current methods for ... Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early ... Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy which typically affects male infants. DMD is an X ...
... blog for the latest Duchenne muscular dystrophy news related to research, care, advocacy, and community. ... Advancing Duchenne Cardiac Care: A Year of Impact and Gratitude. Cardiac care is at the heart of Duchenne, which is why it ... 2023 Parent Project Muscular Dystrophy , Contact Us , Privacy Policy , EIN 31-1405490 ... This year, I am filled with gratitude for the impact we have made on the Duchenne landscape these past… Learn More ...
... An article from the e-journal of the ESC Council for ... Both Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked, recessive disorders in which the genetic locus has been ... Duchenne and Becker muscular dystrophies are inherited X-linked, recessive disorders characterised by an abnormality in the ... Perindopril preventive treatment on mortality in Duchenne Muscular Dystrophy: 10 yrs follow-up. Am Heart J 2007; 154(3): 596- ...
Royal Holloway is giving money generated by its research into Duchenne muscular dystrophy to the Muscular Dystrophy Campaign. ... They are raising funds for research into Duchenne muscular dystrophy through the Muscular Dystrophy Campaigns Duchenne ... Royal Holloway is giving money generated by its research into Duchenne muscular dystrophy to the Muscular Dystrophy Campaign. ... Pioneering research into Duchenne muscular dystrophy secures commercial funding. 02-Apr-2013 - United Kingdom ...
A young man from Liverpool living with Duchenne Muscular Dystrophy is trying to raise enough money to buy a life-changing ... A young man from Liverpool living with Duchenne Muscular Dystrophy is trying to raise enough money to buy a life-changing ... Liverpool family fundraise for robotic arm to help son with Duchenne Muscular Dystrophy regain some independence. *. ...
Duchenne is tested for with a DNA carrier testing for Duchenne Muscular Dystrophy. Find out the reasons, procedure and ... Duchenne Muscular Dystrophy Testing Duchenne is tested for with a DNA carrier testing for Duchenne Muscular Dystrophy. Between ... Two types of muscular dystrophy include Duchenne Muscular Dystrophy and Becker Muscular Dystrophy. Since these are genetically ... Duchenne Muscular Dystrophy Testing Reasons, Procedure & Preparation For Duchenne Muscular Dystrophy Testing. Submitted on ...
Latest Duchenne Muscular Dystrophy News, DMD Treatment Updates, New Research on Duchenne Muscular Dystrophy, Duchenne Muscular ... Duchenne Muscular Dystrophy Advances, DMD Patient Stories, Duchenne Muscular Dystrophy Causes and Symptoms, മലയാളം ആരോഗ്യ വാർ ... Dystrophy Breakthroughs, DMD Clinical Trials 2023, Duchenne Muscular Dystrophy Awareness, DMD Progress and Developments, ... അവനു ഡ്യൂഷെന്നെ മസ്കുലാർ ഡിസ്ട്രോഫി (Duchenne Muscular Dystrophy) ആണെന്നു കണ്ടെത്തി. എന്റെ വിവാഹം തീരുമാനിച്ചിരിക്കുകയാണ്. ...
... has been approved by the FDA to treat Duchenne muscular dystrophy (DMD) in patients aged 2 years and up, according to Santhera ... Vamorolone, oral suspension 40 mg / ml, has been approved by the FDA to treat Duchenne muscular dystrophy (DMD) in patients ... FDA approves vamorolone to treat Duchenne muscular dystrophy October 30, 2023. Joshua Fitch, Editor ... FDA approved vamorolone (Agamree) for Duchenne muscular dystrophy (DMD) in patients aged 2 years and older on October 26, 2023. ...
Member Christopher Perry and team working toward new therapies that treat muscle weakness in Duchenne muscular dystrophy (DMD) ... Member Christopher Perry and team working toward new therapies that treat muscle weakness in Duchenne muscular dystrophy (DMD) ...
... secured a Fast-Track designation from the FDA for its investigational gene therapy PF-06939926 for the treatment of Duchenne ... muscular dystrophy (DMD). DMD is a life-threatening disease brought about by mutations in the gene-encoding dystrophin protein ... Home » Pfizer Wins FDA Fast Track for Duchenne Muscular Dystrophy Treatment. Pfizer Wins FDA Fast Track for Duchenne Muscular ... designation from the FDA for its investigational gene therapy PF-06939926 for the treatment of Duchenne muscular dystrophy (DMD ...
Duchenne muscular dystrophy, or DMD, is a genetic disorder caused by the absence of a protein called dystrophin, and is ... s gene therapies Exondys 51 and golodirsen are not cost-effective in treating Duchenne muscular dystrophy. ...
Emma Hallams son Alex was born with Duchenne Muscular Dystrophy, an illness that deliberates the muscles and was thought to be ... Dismay at Duchenne Muscular Dystrophy drug delay. Emma Hallams son Alex was born with Duchenne Muscular Dystrophy, an illness ... Emma Hallams son Alex was born with Duchenne Muscular Dystrophy, an illness that deliberates the muscles and was thought to be ... "As Duchenne is a degenerative condition, boys could lose their ability to walk at any time, and whilst this delay continues ...
Advocating for Access: Navigating Approved Therapies in Duchenne. by: Parent Project Muscular Dystrophy ... 2023 Parent Project Muscular Dystrophy , Contact Us , Privacy Policy , EIN 31-1405490 ... We dive into PPMDs efforts to optimize access to Elevidys and other approved therapies, our partnership with the Duchenne ... Aravindhan Veerapandiyan, Director of the Certified Duchenne Care Center at Arkansas Childrens Hospital. ...
Understanding Duchenne: Caregivers will find a primer on the basics of a Duchenne muscular dystrophy diagnosis and the causes ... Duchenne muscular dystrophy is an aggressive muscle-wasting disease that leads to individuals typically using wheelchairs by ... Twenty years ago, CureDuchenne was created with one goal: to find and fund a cure for Duchenne muscular dystrophy, the leading ... CureDuchenne Launches the CureDuchenne Caregiver Course: A Free Virtual Resource for Duchenne Muscular Dystrophy Caregivers. ...
Integrated Treatment Protocol for Management of Duchenne Muscular Dystrophy was held at Amrita Institute of Medical Sciences ... "An Integrated Approach to the Treatment of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy". The major aim of this ... An international symposium "Integrated Treatment Protocol for Management of Duchenne Muscular Dystrophy" was held at Amrita ... International Symposium on "Integrated Treatment Protocol for Management of Duchenne Muscular Dystrophy". September 5, 2019 - 9 ...
Monozygotic twin girls are reported, one of whom has the typical clinical features of Duchenne muscular dystrophy despite a ... These preliminary experimental results support the hypothesis that both girls are heterozygous for Duchenne muscular dystrophy ...
To determine the survival in a population of German patients with Duchenne muscular dystrophy. Patients and methods: ... Objective: To determine the survival in a population of German patients with Duchenne muscular dystrophy. Patients and methods ... To determine the survival in a population of German patients with Duchenne muscular dystrophy. Patients and methods: ...
An international study on Duchenne Muscular Dystrophy led by UC Davis Health will build a robust database on the progression of ... International study on Duchenne muscular dystrophy provides foundation for future research. By Claudia Coons. UC Davis Health ... Duchenne muscular dystrophy (DMD) is a progressive disorder that mostly affects boys. It is present from birth and causes ... Building on current research into Duchenne muscular dystrophy. The new project builds on a previous longitudinal study that was ...
... the first gene therapy for the treatment of pediatric patients 4 through 5 years of age with Duchenne muscular dystrophy (DMD). ... Step toward broader treatment for Duchenne muscular dystrophy. Current therapies to treat Duchenne muscular dystrophy, a ... Duchenne muscular dystrophy is a rare and serious genetic condition that worsens over time, leading to weakness and wasting ... FDA approves first gene therapy for treatment of certain patients with Duchenne muscular dystrophy. By Leo OConnor, Editor in ...
  • Vamorolone, oral suspension 40 mg / ml, has been approved by the FDA to treat Duchenne muscular dystrophy (DMD) in patients aged 2 years and up, according to Santhera Pharmaceuticals. (contemporarypediatrics.com)
  • Santhera Pharmaceuticals) to treat Duchenne muscular dystrophy (DMD) in patients aged 2 years and older, according to the federal agency. (contemporarypediatrics.com)
  • Current therapies to treat Duchenne muscular dystrophy, a genetic muscle-wasting disease, only work in a small proportion of people with the condition. (scienceboard.net)
  • The medication is Deflazacort , a popular drug used to treat Duchenne muscular dystrophy, however it is not covered under government health plans. (ctvnews.ca)
  • Deflazacort, a popular drug used to treat Duchenne muscular dystrophy, is photographed. (ctvnews.ca)
  • Thanks to advances in many areas of medicine, such as cardiology and pulmonology, people with Duchenne muscular dystrophy (DMD) in the 21st century are living longer than in previous decades, often well into adulthood. (mda.org)
  • Local organizations that provide support for people with Duchenne muscular dystrophy. (thijsal.com)
  • the decrease in pulmonary function in people with Duchenne muscular dystrophy (DMD) contributes to a significant morbidity due to the progressive weakness of the respiratory muscles. (bvsalud.org)
  • Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. (wikipedia.org)
  • It is the most common type of muscular dystrophy. (wikipedia.org)
  • Duchenne muscular dystrophy is a type of muscular dystrophy that affects boys, mostly in the age group of 4 to 18 years. (thijsal.com)
  • There is no known cure for Duchenne muscular dystrophy. (medlineplus.gov)
  • Twenty years ago, CureDuchenne was created with one goal: to find and fund a cure for Duchenne muscular dystrophy, the leading genetic killer of young boys. (cbs42.com)
  • You can advance the care, treatment and cure for Duchenne muscular dystrophy. (cureduchenne.org)
  • Debra Miller , Founder and CEO of CureDuchenne, commented, "We are thrilled to launch this essential resource for caregivers of individuals with Duchenne muscular dystrophy. (cbs42.com)
  • Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). (medlineplus.gov)
  • Duchenne and Becker muscular dystrophies are inherited X-linked, recessive disorders characterised by an abnormality in the dystrophin gene and in which elevated serum creatinine kinase activity is observed. (escardio.org)
  • Both Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked, recessive disorders in which the genetic locus has been identified as an abnormality in the dystrophin gene. (escardio.org)
  • When dystrophin production is deficient, to the effect of the deficiency, one could end up with either dystrophy. (medicalhealthtests.com)
  • Duchenne manifests with no dystrophin creation while Becker's manifests with deficient creation. (medicalhealthtests.com)
  • Duchenne muscular dystrophy, or DMD, is a genetic disorder caused by the absence of a protein called dystrophin, and is characterized by progressive muscle degeneration and weakness. (spglobal.com)
  • Duchenne Muscular Dystrophy is a rare genetic disorder, which is caused due to the lack of functional dystrophin protein due to the missing of exons in the dystrophin gene. (delveinsight.com)
  • ELEVIDYS, an adeno-associated virus based gene therapy, addresses the root genetic cause of Duchenne - mutations in the dystrophin gene that result in the lack of dystrophin protein - by delivering a gene that codes for a shortened form of dystrophin to muscle cells known as ELEVIDYS micro-dystrophin. (businessinsider.com)
  • Dystrophin deficiency thus, leads to destruction of muscle fibres and progressive muscular weakness. (who.int)
  • In Becker dystrophy, the mutations result in production of abnormal dystrophin or insufficient dystrophin. (msdmanuals.com)
  • Cite this: FDA Okays Drug for Duchenne Muscular Dystrophy - Medscape - Oct 27, 2023. (medscape.com)
  • FDA approved vamorolone (Agamree) for Duchenne muscular dystrophy (DMD) in patients aged 2 years and older on October 26, 2023. (contemporarypediatrics.com)
  • NEWPORT BEACH, Calif. , Sept. 19, 2023 /PRNewswire/ -- CureDuchenne, a leading nonprofit organization dedicated to advancing research and improving the lives of individuals affected by Duchenne muscular dystrophy, is proud to announce the launch of the CureDuchenne Caregiver Course . (cbs42.com)
  • June 22, 2023 -- The U.S. Food and Drug Administration (FDA) on Thursday approved Elevidys, the first gene therapy for the treatment of pediatric patients 4 through 5 years of age with Duchenne muscular dystrophy (DMD). (scienceboard.net)
  • 2023, Muscular Dystrophy Association Inc. All rights reserved. (mda.org)
  • A diagnosis of Duchenne muscular dystrophy (DMD) can come as a shock to parents and caregivers. (healthline.com)
  • This free virtual resource is designed to provide invaluable guidance and support to caregivers of individuals newly diagnosed with Duchenne muscular dystrophy and those navigating the first few years of diagnosis. (cbs42.com)
  • While there is no cure for Duchenne, physical therapy remains one of the primary treatment options, and can begin immediately upon diagnosis both in a clinical setting, at school and with at-home routines. (cbs42.com)
  • Caregivers will find a primer on the basics of a Duchenne muscular dystrophy diagnosis and the causes of muscle damage. (cbs42.com)
  • Furthermore, not long ago, the company announced promising results from a small study of SRP-9003 , its gene therapy for limb-girdle muscular dystrophy Type 2E (LGMD2E). (delveinsight.com)
  • Mutations in all sarcoglycans, in dysferlin, and in caveolin-3, as well as mutations that cause abnormal glycosylation of alpha-dystroglycan, can result in limb-girdle muscular dystrophy. (medscape.com)
  • Thus, the concept of limb-girdle muscular dystrophy (LGMD) as a nosologic entity was challenged, and now it is fair to consider it a symptom complex that consists of at least 4 disorders with varied inheritance patterns and etiologies. (medscape.com)
  • Pune, Maharashtra, India, October 13 2020 (Wiredrelease) MarketDesk -:The report throws light on the competitive scenario of the global Duchenne Muscular Dystrophy Market for the Software market to know the competition at both the domestic and global levels. (pharmiweb.com)
  • One very promising area for gene therapy is in the muscle-wasting disease Duchenne Muscular Dystrophy, which affects about one in every three thousand males. (thenakedscientists.com)
  • Pfizer has secured a Fast-Track designation from the FDA for its investigational gene therapy PF-06939926 for the treatment of Duchenne muscular dystrophy (DMD). (fdanews.com)
  • U.S. drug pricing watchdog Institute for Clinical and Economic Review said Sarepta Therapeutics Inc.'s gene therapies Exondys 51 and golodirsen are not cost-effective in treating Duchenne muscular dystrophy. (spglobal.com)
  • CureDuchenne's innovative venture philanthropy model has advanced transformative treatments for Duchenne muscular dystrophy, including 17 projects that advanced to human clinical trials and multiple projects to overcome the limitations of exon-skipping and gene therapy. (cbs42.com)
  • Researchers have created a lentiviral gene therapy vector capable of targeting muscle cells to treat the rare disease Duchenne muscular dystrophy (DMD). (scienceboard.net)
  • Sarepta Therapeutics, a leading player focused in developing precision genetic medicines for rare diseases with more than 25 programs ongoing, has recently announced the submission of New Drug Application (NDA) to the US FDA for Casimersen (SRP-4045) for the treatment of Duchenne muscular dystrophy (DMD) with a genetic mutation that is amenable to skipping exon 45 of the Duchenne gene. (delveinsight.com)
  • RTTNews) - Sarepta Therapeutics, Inc. announced Friday that the U.S. Food and Drug Administration or FDA has accelerated approval of ELEVIDYS (delandistrogene moxeparvovec-rokl) for the treatment of ambulatory pediatric patients aged 4 through 5 years with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene. (businessinsider.com)
  • Sarepta Therapeutics and Roche are competing with Pfizer to develop the first gene replacement therapy for Duchenne muscular dystrophy. (managedhealthcareexecutive.com)
  • The U.S. Food and Drug Administration has granted accelerated approval for the first-ever gene therapy, Elevidys, targeting Duchenne Muscular Dystrophy. (fingerlakes1.com)
  • To investigate the natural course of the spinal deformity in Duchenne muscular dystrophy (DMD) and its clinical relevance, longitudinal series of spinal radiographs and medical records of 46 patients with DMD were reviewed. (nih.gov)
  • Conditions in which CK is mildly elevated or normal include spinal muscular atrophy, neuropathies, and congenital myopathies. (medscape.com)
  • At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. (medscape.com)
  • Instead, doctors will test for the condition when they suspect it on the basis of symptoms or behaviors characteristic of Duchenne . (everydayhealth.com)
  • It's absolutely shocking that they are taking so long, this is the first ever drug to be approved for Duchenne that will delay symptoms and keep boys on their feet for longer. (loughboroughecho.net)
  • The drug is a steroid taken daily to help keep muscles strong and symptoms of muscular dystrophy in check. (ctvnews.ca)
  • What are the Symptoms of Duchenne Muscular Dystrophy? (thijsal.com)
  • Becker dystrophy has later onset and causes milder symptoms. (msdmanuals.com)
  • Sue - Duchenne M.D. is an inherited muscle wasting disease that is usually evident in affected boys around two to five years of age. (thenakedscientists.com)
  • Duchenne muscular dystrophy, a condition that affects mostly boys and men, is a genetic disease that causes loss of muscle over time. (everydayhealth.com)
  • One of the first tests that is typically given looks at the breakdown of muscle cells, while a genetic test to find the mutation causing Duchenne tends to be the final diagnostic test. (everydayhealth.com)
  • If this is the case, your doctor may recommend a muscle biopsy to look for the telltale signs of Duchenne in muscle cells. (everydayhealth.com)
  • Skeletal muscle biopsy showed mild nonspecific changes, but her family history was significant for a son who died of Duchenne muscular dystrophy (DMD). (nih.gov)
  • 10 Muscle biopsies can differentiate muscular dystrophies from other muscle diseases, 11 however biopsy examinations can be both expensive and invasive. (nature.com)
  • Duchenne muscular dystrophy is an aggressive muscle-wasting disease that leads to individuals typically using wheelchairs by age 12, with continued muscle deterioration as the disease progresses. (cbs42.com)
  • Researchers at Johns Hopkins Medicine have discovered that blocking an ion channel increases muscle function and survival in mice with severe Duchenne. (scienceboard.net)
  • If you or your child is experiencing challenges accessing Deflazacort, you can contact Muscular Dystrophy Canada at [email protected] or call 1-800-567-2873 ext. 1114. (ctvnews.ca)
  • Duchenne muscular dystrophy is a progressive muscle-wasting disease that affects boys and young men. (thijsal.com)
  • Duchenne muscular dystrophy is a rare genetic disorder that causes muscle wasting and weakness over time. (thijsal.com)
  • The most common form of Duchenne causes muscle weakness and loss in boys before they reach their teens. (thijsal.com)
  • Previous studies have provided moderate-quality evidence that glucocorticoid therapy improves muscle strength or function or both for up to 2 years in patients with Duchenne muscular dystrophy, but there are also clinically significant adverse effects of long-term glucocorticoid treatment. (medscape.com)
  • Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. (medscape.com)
  • In both Duchenne and Becker MD, the muscle-cell unit gradually dies, and macrophages invade. (medscape.com)
  • Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. (medscape.com)
  • In 1891, Erb put forward the concept of muscular dystrophies as a primary degeneration of muscle and coined the term "dystrophia muscularis progressiva. (medscape.com)
  • In rare cases, a genetic test for Duchenne will be inconclusive, because not all mutations causing the disease have been firmly identified. (everydayhealth.com)
  • Duchenne muscular dystrophy is an inherited disorder. (medlineplus.gov)
  • Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy. (medlineplus.gov)
  • NEW YORK (Reuters Health) - Long-term glucocorticoid treatment is associated with slower progression and reduced risk of death in patients with Duchenne muscular dystrophy, according to results from the Cooperative International Neuromuscular Research Group (CINRG). (medscape.com)
  • Nearly all forms of muscular dystrophy are genetic and completely incurable. (medicalhealthtests.com)
  • Duchenne muscular dystrophy is an incurable disease, which means there are no treatments or cures available for it. (thijsal.com)
  • The US Food and Drug Administration (FDA) has approved vamorolone oral suspension (Agamree, Santhera) for the treatment of Duchenne muscular dystrophy (DMD) in patients as young as age 2 years, the company has announced . (medscape.com)
  • The approval of vamorolone "provides people living with Duchenne, and their families, a powerful tool to treat the disease, while limiting some negative side effects associated with corticosteroids," Hesterlee added. (medscape.com)
  • 2. Santhera receives US FDA approval of Agamree (vamorolone for the treatment of Duchenne muscular dystrophy. (contemporarypediatrics.com)
  • ReveraGen BioPharma Inc, a privately held corporation, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for vamorolone (VBP15) for the treatment of patients with Duchenne muscular dystrophy . (mda.org)
  • Santhera Pharmaceuticals (SIX: SANN) announces that it has submitted a marketing authorization application (MAA) to the UK Medicines and Healthcare products Regulatory Agency (MHRA) for vamorolone for the treatment of Duchenne muscular dystrophy (DMD). (swissbiotech.org)
  • Corticosteroids have been a first line treatment for DMD for many years but their utility has always been limited by the side effect profile, which includes weight gain, short stature , and decreased bone density among others," Sharon Hesterlee, PhD, chief research officer for the Muscular Dystrophy Association (MDA), said in a statement . (medscape.com)
  • The earlier Duchenne is diagnosed, the earlier treatment can start, possibly delaying disability. (everydayhealth.com)
  • The additional funding we will receive from Professor Dickson's work can be ploughed back into our other lines of research, and will help us ensure that every child with Duchenne will one day benefit from treatment. (bionity.com)
  • As Duchenne is a degenerative condition, boys could lose their ability to walk at any time, and whilst this delay continues they are in fact costing some boys the ability to walk and access this treatment altogether. (loughboroughecho.net)
  • An international symposium "Integrated Treatment Protocol for Management of Duchenne Muscular Dystrophy" was held at Amrita Institute of Medical Sciences on August 31, 2019. (amrita.edu)
  • Today's approval addresses an urgent unmet medical need and is an important advancement in the treatment of Duchenne muscular dystrophy, a devastating condition with limited treatment options that leads to a progressive deterioration of an individual's health over time," Dr. Peter Marks, director of the FDA's Center for Biologics Evaluation and Research, said in a statement. (scienceboard.net)
  • New research suggests that earlier and more effective treatment for Duchenne muscular dystrophy, an inherited life-limiting disorder caused by a genetic. (scienceboard.net)
  • CTV News Toronto also reached out to Muscular Dystrophy Canada and its CEO Stacey Lintern said in a statement, "Many individuals and their families have been advised by their doctors that Deflazacort is the most suitable option due to its minimal side effects, with some individuals having been on this treatment for 15 years or more. (ctvnews.ca)
  • While there are cheaper alternatives, they have side effects and many patients with Duchenne muscular dystrophy feel that Deflazacourt is the preferred treatment. (ctvnews.ca)
  • Exondys 51 is a promising treatment for Duchenne muscular dystrophy. (thijsal.com)
  • The resources mentioned in this section can help to raise awareness and provide information on Duchenne muscular dystrophy and its treatment. (thijsal.com)
  • Title : Associations between timing of corticosteroid treatment initiation and clinical outcomes in Duchenne muscular dystrophy Personal Author(s) : Kim, Sunkyung;Zhu, Yong;Romitti, Paul A.;Fox, Deborah J.;Sheehan, Daniel W.;Valdez, Rodolfo;Matthews, Dennis;Barber, Brent J. (cdc.gov)
  • Our future plans are to expand the CINRG Duchenne Natural History Study (increased numbers of patients with longer-term follow-up), which will yield additional data on the effect of other treatment standards, alone or in combination, that are articulated in internationally recommended care considerations guidelines," the researchers note. (medscape.com)
  • Dr Marita Pohlschmidt, Director of Research at the Muscular Dystrophy Campaign said: "We are at a crucial stage in research into finding treatments for Duchenne muscular dystrophy. (bionity.com)
  • Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
  • Duchenne patients die in their 20s while Becker patients survive to age 40-50. (escardio.org)
  • Expert advice on safe and effective stretching techniques and exercise routines tailored to Duchenne patients is provided. (cbs42.com)
  • Objective: To determine the survival in a population of German patients with Duchenne muscular dystrophy. (uni-wuerzburg.de)
  • Muscular Dystrophy Canada said it's important for patients to have equal access to appropriate treatments at a fair cost and that they will continue to try and influence change with regards to the price hike. (ctvnews.ca)
  • There are no known cures for Duchenne muscular dystrophy, but there are ways to help patients with this condition. (thijsal.com)
  • this results in the high levels of creatine phosphokinase (CPK) noted on routine blood workup of patients with Duchenne MD. (medscape.com)
  • Patients who have Duchenne dystrophy should be offered prednisone or deflazacort and sometimes exon-skipping treatments using antisense oligonucleotides. (msdmanuals.com)
  • In Becker dystrophy, 85% of patients have a deletion, and 10% have a duplication. (msdmanuals.com)
  • Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. (nature.com)
  • Duchenne muscular dystrophy (DMD) is a progressive disorder that mostly affects boys. (ucdavis.edu)
  • With no cure at present, the current US Duchenne Muscular Dystrophy Market is mainly dominated by the use of Glucocorticoids (Prednisone, Prednisolone along with several others) and approved therapies, which include both Exon skipping therapies (Exondys 51 and Vyondys 53) and another approved corticosteroid Emflaza (PTC Therapeutics). (delveinsight.com)
  • In this collaboration, Biovista is working with DART Therapeutics Inc., to develop therapies for Duchenne Muscular Dystrophy (DMD). (biovista.com)
  • We hope that the novel analyses of milestone-related disease progression assessed by time-to-event across the lifespan used in this study will provide a framework through which multiple therapeutics targeting various aspects of Duchenne muscular dystrophy pathogenesis can be assessed for long-term efficacy. (medscape.com)
  • This usually happens when a boy is 3 to 5 years old, and when a parent, caregiver, or doctor recognizes signs of abnormal walking, according to Leigh Maria Ramos-Platt, MD , a pediatric neurologist and the director of the Muscular Dystrophy Association Neuromuscular Clinic at Children's Hospital in Los Angeles. (everydayhealth.com)
  • Vamshi K. Rao, MD , a pediatric neurologist and the codirector of the Muscular Dystrophy Association Clinic at Lurie Children's Hospital in Chicago, laments that testing for Duchenne often happens much later than is ideal, "because people have not thought about associated features that you could catch early. (everydayhealth.com)
  • The CureDuchenne Caregiver Course, created by CureDuchenne physical therapists Jennifer Wallace , PT, and Doug Levine , PT, features a comprehensive series of chapters that covers essential topics related to Duchenne muscular dystrophy, empowering caregivers with the knowledge and skills they need to provide the best care and enhance the quality of life for their loved ones. (cbs42.com)
  • Today, CureDuchenne is recognized as a global leader in research, patient care, and innovation for improving and extending the lives of those with Duchenne. (cbs42.com)
  • In addition, CureDuchenne contributed early funding to the first FDA-approved Duchenne drug, pioneered the first and only Duchenne physical and occupational therapist certification program and created an innovative biobank and data registry, accelerating research toward a cure. (cbs42.com)
  • An overview of the recommended standards of care for individuals with Duchenne ensures the best possible outcomes. (cbs42.com)
  • Interpreting motor function outcomes in young males with Duchenne muscular dystrophy. (bvsalud.org)
  • The total diagnosed Duchenne Muscular Dystrophy prevalent population in the 7MM was found to be 27,685 in 2017, estimated DelveInsight. (delveinsight.com)
  • We dive into PPMD's efforts to optimize access to Elevidys and other approved therapies, our partnership with the Duchenne Family Assistance Program (DFAP) to bring direct case management to the community, and discuss the critical roles of the patient and clinician community. (parentprojectmd.org)
  • Affecting just 1 in 3000 young boys, Duchenne muscular dystrophy is a life-shortening condition, which causes muscles to weaken and waste over time leading to increasingly severe disability. (bionity.com)
  • Duchenne is tested for with a DNA carrier testing for Duchenne Muscular Dystrophy. (medicalhealthtests.com)
  • Carrier testing for Duchenne muscular dystrophy is performed with a DNA test and confirmation of a creatine kinase elevated level. (medicalhealthtests.com)
  • Duchenne muscular dystrophy DNA carrier testing is a test that is done by taking a tissue sample or a sample of bodily fluids from which DNA can be extracted. (medicalhealthtests.com)
  • Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy. (bmj.com)
  • Duchenne muscular dystrophy is a rare and serious genetic condition that worsens over time, leading to weakness and wasting away of the body's muscles. (scienceboard.net)
  • The University of Rochester Medical Center is home to one of three original Muscular Dystrophy Cooperative Research Centers set up by the National Institutes of Health. (rochester.edu)
  • Royal Holloway is giving money generated by its research into Duchenne muscular dystrophy to the Muscular Dystrophy Campaign. (bionity.com)
  • Professor George Dickson said : "We are delighted to be able to return money to the Muscular Dystrophy Campaign who originally funded this research in the early stages. (bionity.com)
  • They are raising funds for research into Duchenne muscular dystrophy through the Muscular Dystrophy Campaign's Duchenne Research Breakthrough Fund. (bionity.com)
  • Marquis shares, "This fall I will be embarking on a tour throughout the northeast, riding a bicycle over 1,200+ miles from city to city playing shows to bring attention to Spaghetti Arms, an organization which aims to raise awareness, fundraise, and support research to end Duchenne Muscular Dystrophy - the most common fatal genetic disorder diagnosed in early childhood. (equalvision.com)
  • Industry Growth Insights, one of the world's leading market research firms have rolled out a new report on the Duchenne Muscular Dystrophy market. (pharmiweb.com)
  • This research will help both existing and new applicants for the Global Duchenne Muscular Dystrophy Market to figure out and study market needs, market size, and competition. (pharmiweb.com)
  • The Race Against Time is back for the seventh year in a row, and 2016 promises to be a milestone year, both for the Race Against Time AND for Duchenne research! (charleysfund.org)
  • however, it is important to note that once the test results come back as positive, a patient has to be mentally prepared for the consequences of the disease that include, massive muscular degeneration causing trouble in movement, breathing, digestion, heart function, and eventually death. (medicalhealthtests.com)
  • Some children with undiagnosed Duchenne undergo unnecessary liver biopsies when their liver enzymes are found to be high, an outcome that can easily be avoided, says Rao, by testing for CK. (everydayhealth.com)
  • A 3-year-old boy was seen in the community paediatric clinic for follow up of his Duchenne muscular dystrophy (DMD). (bestbets.org)
  • The most common initial blood test to look for Duchenne - when a child shows early physical signs of the condition - measures an enzyme called creatine kinase (CK) , which is released into the blood when muscles in the body break down. (everydayhealth.com)
  • A discussion about muscular dystrophy can center around topics that relate to your child's daily life. (healthline.com)
  • The first step is to understand what your child's specific type of Duchenne muscular dystrophy is and how it affects them. (thijsal.com)
  • This paper reports a study of 48 women (16 mothers and 32 daughters representing 28 families) who had lived with Duchenne muscular dystrophy (DMD) in their family. (bmj.com)
  • Tricia and her husband, Dale, took Jared to see Dr. Emma Ciafaloni , a neurologist and expert in Muscular Dystrophy. (rochester.edu)
  • CureDuchenne's Physical Therapy & Professional Program is the first physical therapy education program specifically designed to help individuals living with Duchenne prolong ambulation and delay many areas of disease progression. (cbs42.com)
  • BestBets: Do steroids prolong ambulation and improve quality of life in children with Duchenne muscular dystrophy? (bestbets.org)
  • [ 3 ] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
  • In 1954, when Walton and Nattrass reported 105 cases of limb-girdle weakness associated with many other disorders, the nosologic entity of limb-girdle dystrophy was formally established. (medscape.com)
  • Duchenne muscular dystrophy occurs in about 1 out of every 3,600 male infants. (medlineplus.gov)
  • Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy which typically affects male infants. (nature.com)
  • After initial blood tests, your doctor will order a genetic test for Duchenne if the condition is suspected. (everydayhealth.com)
  • Becker muscular dystrophy testing is conducted in much the same way and most of the diagnostic criteria between DMD and BMD are the same because of the similar pathophysiology of the disease. (medicalhealthtests.com)
  • Muscular dystrophy is a disease in which the muscles of the body degenerate progressively. (medicalhealthtests.com)
  • The study, known as the Duchenne Natural History Study, will collect information on the course of the disease in people with DMD who are receiving standard care at clinics around the world. (ucdavis.edu)
  • What we're doing is working - help us keep up the momentum and make Duchenne history for all boys with this disease. (charleysfund.org)
  • The disease affects both genders equally and is the most common form of muscular dystrophy. (thijsal.com)
  • It is the most common form of childhood muscular dystrophy, affecting about 1 in 3,500 male births worldwide. (managedhealthcareexecutive.com)
  • Duchenne muscular dystrophy is one of the most common dystrophinopathies known. (who.int)
  • The atria appear cular dystrophy (EDMD), the type reported to be involved earlier than the ventricles, here, is less common. (who.int)
  • Emma Hallam's son Alex was born with Duchenne Muscular Dystrophy, an illness that deliberates the muscles and was thought to be untreatable. (loughboroughecho.net)
  • Duchenne muscular dystrophy is a genetic disorder that affects the muscles of the body. (thijsal.com)
  • A therapy that will change the lives of children with Duchenne is almost certainly on the horizon. (bionity.com)
  • Insights are shared into the critical role that physical therapy plays in Duchenne management and the difference between clinical and school-based physical therapy. (cbs42.com)
  • The approval of the therapy demonstrated that the adequacy of dystrophy as a surrogate for winning FDA's accelerated approval in case of DMD, a rare disorder with high unmet needs. (delveinsight.com)
  • CTV News Toronto was unable to reach the new manufacturer of Deflazacourt, however Muscular Dystrophy Canada confirmed the price increase was due to a new manufacturer making the drug in Europe which also means increased shipping costs. (ctvnews.ca)