A group of muscle diseases associated with abnormal mitochondria function.
Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
Inflammation of a muscle or muscle tissue.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
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.
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)

Human deafness dystonia syndrome is a mitochondrial disease. (1/210)

The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a mitochondrial protein and similar to five small proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) of the yeast mitochondrial intermembrane space. Tim9p, Tim10p, and Tim12p mediate the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane and interact structurally and functionally with Tim8p and Tim13p. DDP is most similar to Tim8p. Tim8p exists as a soluble 70-kDa complex with Tim13p and Tim9p, and deletion of Tim8p is synthetically lethal with a conditional mutation in Tim10p. The deafness dystonia syndrome thus is a novel type of mitochondrial disease that probably is caused by a defective mitochondrial protein-import system.  (+info)

Rapid progression of cardiomyopathy in mitochondrial diabetes. (2/210)

Cardiac involvement and its clinical course in a diabetic patient with a mitochondrial tRNA(Leu)(UUR) mutation at position 3243 is reported in a 54-year-old man with no history of hypertension. At age 46, an electrocardiogram showed just T wave abnormalities. At age 49, it fulfilled SV1 + RV5 or 6>35 mm with strain pattern. At age 52, echocardiography revealed definite left ventricular (LV) hypertrophy, and abnormally increased mitochondria were shown in biopsied endomyocardial specimens. He was diagnosed as having developed hypertrophic cardiomyopathy associated with the mutation. However, at age 54, SV1 and RV5,6 voltages were decreased, and echocardiography showed diffuse decreased LV wall motion and LV dilatation. Because he had mitochondrial diabetes, the patient's heart rapidly developed hypertrophic cardiomyopathy, and then it seemed to be changing to a dilated LV with systolic dysfunction. Rapid progression of cardiomyopathy can occur in mitochondrial diabetes.  (+info)

Relaxed replication of mtDNA: A model with implications for the expression of disease. (3/210)

Heteroplasmic mtDNA defects are an important cause of human disease with clinical features that primarily involve nondividing (postmitotic) tissues. Within single cells the percentage level of mutated mtDNA must exceed a critical threshold level before the genetic defect is expressed. Although the level of mutated mtDNA may alter over time, the mechanism behind the change is not understood. It currently is not possible to directly measure the level of mutant mtDNA within living cells. We therefore developed a mathematical model of human mtDNA replication, based on a solid foundation of experimentally derived parameters, and studied the dynamics of intracellular heteroplasmy in postmitotic cells. Our simulations show that the level of intracellular heteroplasmy can vary greatly over a short period of time and that a high copy number of mtDNA molecules delays the time to fixation of an allele. We made the assumption that the optimal state for a cell is to contain 100% wild-type molecules. For cells that contain pathogenic mutations, the nonselective proliferation of mutant and wild-type mtDNA molecules further delays the fixation of both alleles, but this leads to a rapid increase in the mean percentage level of mutant mtDNA within a tissue. On its own, this mechanism will lead to the appearance of a critical threshold level of mutant mtDNA that must be exceeded before a cell expresses a biochemical defect. The hypothesis that we present is in accordance with the available data and may explain the late presentation and insidious progression of mtDNA diseases.  (+info)

Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease. (4/210)

Disproportionate exercise limitation in patients with cardiovascular disease is a common problem faced by clinical cardiologists and other physicians. Symptoms may be attributed to psychological factors or hypothetical pathophysiological mechanisms that are difficult to confirm clinically. This case report describes how the use of metabolic exercise testing in a 28 year old woman with morphologically and haemodynamically mild hypertrophic cardiomyopathy and severe exercise limitation led to the diagnosis of an alternative cause for the patient's symptoms, namely a primary disturbance of the mitochondrial respiratory chain probably caused by a nuclear encoded gene defect.  (+info)

Enzyme histochemical study of germanium dioxide-induced mitochondrial myopathy in rats. (5/210)

The purpose of this study were 1) to determine the earliest pathological changes of germanium dioxide (GeO2)-induced myopathy; 2) to determine the pathomechanism of GeO2-induced myopathy; and 3) to determine the minimal dose of GeO2 to induce myopathy in rats. One hundred and twenty five male and female Sprague-Dawley rats, each weighing about 150 gm, were divided into seven groups according to daily doses of GeO2. Within each group, histopathological studies were done at 4, 8, 16, and 24 weeks of GeO2 administration. Characteristic mitochondrial myopathy was induced in the groups treated daily with 10 mg/kg of GeO2 or more. In conclusion, the results were as follows: 1) The earliest pathological change on electron microscope was the abnormalities of mitochondrial shape, size and increased number of mitochondria; 2) The earliest pathological change on light microscope was the presence of ragged red fibers which showed enhanced subsarcolemmal succinate dehydrogenase and cytochrome c oxidase reactivity; 3) GeO2 seemed to affect the mitochondrial oxidative metabolism of muscle fibers; 4) GeO2 could induce mitochondrial myopathy with 10 mg/kg of GeO2 for 4 weeks or less duration in rats.  (+info)

Low brain intracellular free magnesium in mitochondrial cytopathies. (6/210)

The authors studied, by in vivo phosphorus magnetic resonance spectroscopy (31P-MRS), the occipital lobes of 19 patients with mitochondrial cytopathies to clarify the functional relation between energy metabolism and concentration of cytosolic free magnesium. All patients displayed defective mitochondrial respiration with low phosphocreatine concentration [PCr] and high inorganic phosphate concentration [Pi] and [ADP]. Cytosolic free [Mg2+] and the readily available free energy (defined as the actual free energy released by the exoergonic reaction of ATP hydrolysis, i.e., deltaG(ATPhyd)) were abnormally low in all patients. Nine patients were treated with coenzyme Q10 (CoQ), which improved the efficiency of the respiratory chain, as shown by an increased [PCr], decreased [Pi] and [ADP], and increased availability of free energy (more negative value of deltaG(ATPhyd)). Treatment with CoQ also increased cytosolic free [Mg2+] in all treated patients. The authors findings demonstrate low brain free [Mg2+] in our patients and indicate that it resulted from failure of the respiratory chain. Free Mg2+ contributes to the absolute value of deltaG(ATPhyd). The results also are consistent with the view that cytosolic [Mg2+] is regulated in the intact brain cell to equilibrate, at least in part, any changes in rapidly available free energy.  (+info)

Gene shifting: a novel therapy for mitochondrial myopathy. (7/210)

Mutations in mitochondrial DNA (mtDNA) are the most frequent causes of mitochondrial myopathy in adults. In the majority of cases mutant and wild-type mtDNAs coexist, a condition referred to as mtDNA heteroplasmy; however, the relative frequency of each species varies widely in different cells and tissues. Nearly complete segregation of mutant and wild-type mtDNAs has been observed in the skeletal muscle of many patients. In such patients mutant mtDNAs pre-dominate in mature myofibers but are rare or undetectable in skeletal muscle satellite cells cultured in vitro. This pattern is thought to result from positive selection for the mutant mtDNA in post-mitotic myofibers and loss of the mutant by genetic drift in satellite cells. Satellite cells are dormant myoblasts that can be stimulated to re-enter the cell cycle and fuse with existing myofibers in response to signals for muscle growth or repair. We tested whether we could normalize the mtDNA genotype in mature myofibers in a patient with mitochondrial myopathy by enhancing the incorporation of satellite cells through regeneration following injury or muscle hypertrophy, induced by either eccentric or concentric resistance exercise training. We show a remarkable increase in the ratio of wild-type to mutant mtDNAs, in the proportion of muscle fibers with normal respiratory chain activity and in muscle fiber cross-sectional area after a short period of concentric exercise training. These data show that it is possible to reverse the molecular events that led to expression of metabolic myopathy and demonstrate the effectiveness of this form of 'gene shifting' therapy.  (+info)

Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background. (8/210)

We previously have characterized a pathogenic mtDNA mutation in the tRNAAsn gene. This mutation (G5703A) was associated with a severe mitochondrial protein synthesis defect and a reduction in steady-state levels of tRNAAsn. We now show that, although transmitochondrial cybrids harboring homoplasmic levels of the mutation do not survive in galactose medium, several galactose-resistant clones could be obtained. These cell lines had restored oxidative phosphorylation function and 2-fold higher steady-state levels of tRNAAsn when compared with the parental mutant cell line. The revertant lines contained apparently homoplasmic levels of the mutation and no other detectable alteration in the tRNAAsn gene. To investigate the origin of the suppression, we transferred mtDNA from the revertants (143B/206 TK-) to a different nuclear background (143B/207 TK-, 8AGr). These new transmitochondrial cybrids became defective once again in oxidative phosphorylation and regained galactose sensitivity. However, galactose-resistant clones could also be obtained by growing the 8AGr transmitochondrial cybrids under selection. Because the original rate of reversion was higher than that expected by a classic second site nuclear mutation, and because of the aneuploid features of these cell lines, we searched for the presence of chromosomal alterations that could be associated with the revertant phenotype. These studies, however, did not reveal any gross changes. Our results suggest that modulation of the dosage or expression of unknown nuclear-coded factor(s) can compensate for a pathogenic mitochondrial tRNA gene mutation, suggesting new strategies for therapeutic intervention.  (+info)

Mitochondrial myopathies are a group of genetic disorders caused by mutations in the mitochondrial DNA or nuclear DNA that affect the function of the mitochondria, which are the energy-producing structures in cells. These mutations can result in impaired muscle function and other symptoms, depending on the specific type and severity of the disorder.

Mitochondrial myopathies can present at any age and can cause a range of symptoms, including muscle weakness, exercise intolerance, fatigue, muscle pain, and difficulty with coordination and balance. Some people with mitochondrial myopathies may also experience neurological symptoms such as seizures, developmental delays, and hearing or vision loss.

The diagnosis of mitochondrial myopathies typically involves a combination of clinical evaluation, muscle biopsy, genetic testing, and other diagnostic tests to assess mitochondrial function. Treatment is generally supportive and may include physical therapy, medications to manage symptoms, and nutritional support. In some cases, specific therapies such as vitamin or coenzyme Q10 supplementation may be recommended based on the underlying genetic defect.

Mitochondria in muscle, also known as the "powerhouses" of the cell, are organelles that play a crucial role in generating energy for muscle cells through a process called cellular respiration. They convert the chemical energy found in glucose and oxygen into ATP (adenosine triphosphate), which is the main source of energy used by cells.

Muscle cells contain a high number of mitochondria due to their high energy demands for muscle contraction and relaxation. The number and size of mitochondria in muscle fibers can vary depending on the type of muscle fiber, with slow-twitch, aerobic fibers having more numerous and larger mitochondria than fast-twitch, anaerobic fibers.

Mitochondrial dysfunction has been linked to various muscle disorders, including mitochondrial myopathies, which are characterized by muscle weakness, exercise intolerance, and other symptoms related to impaired energy production in the muscle cells.

Mitochondrial DNA (mtDNA) is the genetic material present in the mitochondria, which are specialized structures within cells that generate energy. Unlike nuclear DNA, which is present in the cell nucleus and inherited from both parents, mtDNA is inherited solely from the mother.

MtDNA is a circular molecule that contains 37 genes, including 13 genes that encode for proteins involved in oxidative phosphorylation, a process that generates energy in the form of ATP. The remaining genes encode for rRNAs and tRNAs, which are necessary for protein synthesis within the mitochondria.

Mutations in mtDNA can lead to a variety of genetic disorders, including mitochondrial diseases, which can affect any organ system in the body. These mutations can also be used in forensic science to identify individuals and establish biological relationships.

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.

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.

Congenital structural myopathies are a group of inherited genetic disorders that affect the structure and function of skeletal muscles. These conditions are present at birth or develop in early infancy and are caused by genetic mutations that lead to abnormalities in the muscle contractile apparatus, including the sarcomere, muscle filaments, and muscle membrane.

The structural abnormalities can affect the muscle fibers' ability to generate force, leading to muscle weakness, hypotonia (low muscle tone), and other symptoms. The severity of the condition can vary widely, from mild to severe, depending on the specific type of myopathy and the extent of muscle involvement.

Examples of congenital structural myopathies include:

1. Congenital fiber-type disproportion (CFTD): a condition characterized by small, atrophic type 1 muscle fibers and normal or enlarged type 2 fibers.
2. Central core disease (CCD): a condition caused by mutations in the ryanodine receptor gene, which leads to the formation of abnormal structures called cores within the muscle fibers.
3. Nemaline myopathy: a condition characterized by the presence of rod-shaped structures called nemalines in the muscle fibers.
4. Myotubular myopathy: a condition caused by mutations in the myotubularin gene, which leads to abnormalities in the muscle fiber nuclei and weakened muscle function.
5. Congenital muscular dystrophy (CMD): a group of conditions characterized by muscle weakness, hypotonia, and joint contractures, often associated with structural abnormalities in the muscle membrane or extracellular matrix.

Diagnosis of congenital structural myopathies typically involves a combination of clinical evaluation, genetic testing, and muscle biopsy. Treatment is generally supportive and may include physical therapy, orthotics, and assistive devices to help manage symptoms and improve function. In some cases, medications or surgical interventions may be necessary to address specific complications.

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.

Nemaline myopathy is a genetic muscle disorder characterized by the presence of rod-like structures called nemalines in the muscle fibers. These rods, which are composed of accumulated protein, can be observed under a microscope in biopsied muscle tissue. The condition is typically present at birth or appears in early childhood and is often associated with muscle weakness, hypotonia (low muscle tone), and delayed motor development.

There are several types of nemaline myopathy, which vary in severity and age of onset. Some individuals with the disorder may have only mild symptoms and be able to lead relatively normal lives, while others may experience significant disability and require assistance with daily activities. The condition can also affect the heart and respiratory muscles, leading to serious complications.

Nemaline myopathy is caused by mutations in one of several genes that are involved in the formation and maintenance of muscle fibers. These genetic defects lead to abnormalities in the structure and function of the muscle fibers, resulting in the characteristic symptoms of the disorder. There is currently no cure for nemaline myopathy, but treatment is focused on managing the symptoms and improving quality of life. This may include physical therapy, assistive devices, and respiratory support, as well as medications to help manage muscle spasticity and other complications.

Inclusion body myositis (IBM) is a rare inflammatory muscle disease characterized by progressive weakness and wasting (atrophy) of skeletal muscles. The term "inclusion body" refers to the presence of abnormal protein accumulations within muscle fibers, which are observed under a microscope during muscle biopsy. These inclusions are primarily composed of aggregated forms of amyloid-β and tau proteins, similar to those found in neurodegenerative disorders like Alzheimer's disease.

IBM typically affects individuals over 50 years old, and it is more common in men than women. The disease usually starts with weakness in the wrist and finger flexors, making it difficult to perform tasks such as gripping, buttoning shirts, or lifting objects. Over time, the weakness spreads to other muscle groups, including the thigh muscles (quadriceps), resulting in difficulty climbing stairs or rising from a seated position.

The exact cause of inclusion body myositis remains unclear; however, both immune-mediated and degenerative mechanisms are believed to contribute to its pathogenesis. Currently, there is no cure for IBM, and treatment options are primarily aimed at managing symptoms and improving quality of life. Immunosuppressive medications may be used to target the inflammatory component of the disease; however, their efficacy varies among patients. Physical therapy and exercise programs can help maintain muscle strength and function as much as possible.

Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. On biopsy, the muscle tissue of ... ophthalmoparesis Symptomatic overlap with other mitochondrial myopathies Mitochondrial myopathy literally means mitochondrial ... Metabolic Myopathies "Mitochondrial Myopathy Information Page , National Institute of Neurological Disorders and Stroke". www. ... There are several subcategories of mitochondrial myopathies. Signs and symptoms include (for each of the following causes): ...
DiMauro S (November 2006). "Mitochondrial myopathies" (PDF). Curr Opin Rheumatol. 18 (6): 636-41. doi:10.1097/01.bor. ... Superoxide produced at the Qo site can be released both into the mitochondrial matrix and into the intermembrane space, where ... Muller FL, Liu Y, Van Remmen H (November 2004). "Complex III releases superoxide to both sides of the inner mitochondrial ... Han D, Williams E, Cadenas E (January 2001). "Mitochondrial respiratory chain-dependent generation of superoxide anion and its ...
... and mitochondrial myopathies. A muscle biopsy can clearly demonstrate whether primary BSS or secondary BSS is affecting a ... or mitochondrial myopathies. As previously mentioned, the disease is more common in older individuals. When initially ... These include the RYR1 gene in axial myopathy, the DMPK gene in myotonic dystrophy, and genes related to dysferlinopathy and ... Idiopathic primary BSS is a late-onset myopathy with progressive muscular weakness that is detected on the spinal extensor ...
... mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA ... Eighty percent of mitochondrial DNA codes for mitochondrial RNA, and therefore most mitochondrial DNA mutations lead to ... The mitochondrial diseases are genetic disorders carried in mitochondrial DNA, or nuclear DNA coding for mitochondrial ... the mitochondrial RNA polymerase (POLRMT), mitochondrial transcription factor A (TFAM), and mitochondrial transcription factors ...
September 2016). "Mitochondrial function is altered in horse atypical myopathy". Mitochondrion. 30: 35-41. doi:10.1016/j.mito. ... Even if atypical myopathy is not contagious it can affect either to individual horse or several horses in the same stock. Some ... Atypical myopathy is a commonly fatal form of equine rhabdomyolysis caused by the toxin Hypoglycin A (HGA). HGA is a naturally- ... Risk of atypical myopathy can be reduced by checking pasture for sycamore plants regularly and avoid letting horses graze in ...
Those could be: dystrophy, myopathy and mitochondrial disorders. This is mostly the result of abnormal function of the ... mitochondrial defects and chromosomal disorders (for example: trisomy 18). This is mostly seen in distal arthrogryposis. ...
Scruggs ER, Dirks Naylor AJ (2008). "Mechanisms of zidovudine-induced mitochondrial toxicity and myopathy". Pharmacology. 82 (2 ... They have been attributed to several possible causes, including transient depletion of mitochondrial DNA, sensitivity of the γ- ... Sun R, Eriksson S, Wang L (June 2010). "Identification and characterization of mitochondrial factors modulating thymidine ... and myopathy. All of these conditions were generally found to be reversible upon reduction of AZT dosages. ...
J M Land; J M Hockaday; J T Hughes; B D Ross (1 September 1981). "Childhood mitochondrial myopathy with ophthalmoplegia". ... in Acute Cerebral Anoxia from Cardiac or Respiratory Arrest Basilar migraine in childhood Childhood mitochondrial myopathy with ...
Mutations in FDX2 cause mitochondrial myopathy. GRCh38: Ensembl release 89: ENSG00000267673 - Ensembl, May 2017 GRCm38: Ensembl ... "Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy". European Journal of Human ... "Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster ...
Shapira Y, Cederbaum SD, Cancilla PA, Nielsen D, Lippe BM (July 1975). "Familial poliodystrophy, mitochondrial myopathy, and ... Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Juvenile myopathy, encephalopathy, lactic ... The MT-TF gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 71 base pairs. The structure of a ... Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the ...
... dysautonomic mitochondrial myopathy. His three older siblings died from the same illness. The condition was unknown until his ... mother was diagnosed with mitochondrial disease in 1992, after all four of the children had been born. Stepanek was a poet and ...
"Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins". ... Aconitase 2, mitochondrial is a protein that in humans is encoded by the ACO2 gene. The secondary structure of ACO2 consists of ... The mitochondrial form of aconitase, ACO2, is correlated with many diseases, as it is directly involved in the conversion of ... Tsui KH, Feng TH, Lin YF, Chang PL, Juang HH (Jan 2011). "p53 downregulates the gene expression of mitochondrial aconitase in ...
"A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy". American Journal of Medical Genetics. Part A ... The MT-TD gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 67 base pairs. The structure of a ... The MT-TD gene encodes for a small transfer RNA (human mitochondrial map position 7518-7585) that transfers the amino acid ... MT-TD mutations have been associated with complex IV deficiency of the mitochondrial respiratory chain, also known as ...
"RTA 408 Capsules in Patients With Mitochondrial Myopathy (MOTOR)". Retrieved 6 October 2014. "Reata Announces the Initiation of ... and mitochondrial myopathies. Reata is also actively engaged in the discovery of small molecule disease-modifying drugs that ... Phase 2 Studies Examining RTA 408 for the Treatment of Friedreich's Ataxia and Mitochondrial Myopathies". Retrieved 6 October ... as well as the potential to improve mitochondrial bioenergetics. Because of the broad applicability of such effects across many ...
"Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy". Nature Genetics. 29 (3): 342-4. doi:10.1038/ ...
Mitochondrial myopathy-defect in mitochondrial enzymes or transport proteins for oxidative phosphorylation (including citric ... Mitochondrial myopathies AMP deaminase deficiency (myoadenylate deaminase deficiency, MADD) "Metabolic Myopathies". www. ... Occurs in the mitochondrial membrane or within the mitochondrion of the muscle cell. The symptoms of a metabolic myopathy can ... Some GSDs and a mitochondrial myopathy are known to have a pseudoathletic appearance. McArdle disease (GSD-V) and late-onset ...
Horvath, R (2003). "A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy". Journal of ... Mitochondrially encoded tRNA alanine also known as MT-TA is a transfer RNA, which in humans is encoded by the mitochondrial MT- ... MT-TA is a small 69 nucleotide RNA (human mitochondrial map position 5587-5655) that transfers the amino acid alanine to a ... "Sequence and organization of the human mitochondrial genome". Nature. 290 (5806): 457-65. Bibcode:1981Natur.290..457A. doi: ...
... can manifest in many different ways. Examples of mitochondrial diseases include: Mitochondrial myopathy ... Mitochondrial disorders may be caused by mutations (acquired or inherited), in mitochondrial DNA (mtDNA), or in nuclear genes ... Most mitochondrial function and biogenesis is controlled by nuclear DNA. Human mitochondrial DNA encodes 13 proteins of the ... A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. ...
It has been associated with mitochondrial myopathy. A G5920A mutation, and a heteroplasmic G6708A nonsense mutation have been ... Kollberg G, Moslemi AR, Lindberg C, Holme E, Oldfors A (February 2005). "Mitochondrial myopathy and rhabdomyolysis associated ... Mutations in this gene can cause mitochondrial Complex IV deficiency, a disease of the mitochondrial respiratory chain ... Cytochrome c oxidase subunit I (CO1 or MT-CO1) is one of three mitochondrial DNA (mtDNA) encoded subunits (MT-CO1, MT-CO2, MT- ...
Together, mitochondrial diseases occur in about 1 in 4,000 people. Mitochondrial myopathy Pia S, Lui F (2020). "Melas Syndrome ... January 1997). "Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin". The ... Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (October 1984). "Mitochondrial myopathy, encephalopathy, lactic ... Hirano M, Pavlakis SG (January 1994). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS ...
... mitochondrial myopathy. Todd Bolender, 92, American dancer and choreographer, director of the Kansas City Ballet. Johnny ...
"Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy". Proceedings of the National Academy ... Mitochondrial pyruvate carrier deficiency (MPYCD) is a metabolic disorder, in which the transport of pyruvate from the cytosol ... March 2023). "MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy". Brain. 146 ( ... Glycogen Storage Disease Metabolic Myopathies Exercise intolerance § low ATP reservoir Myogenic hyperuricemia Purine nucleotide ...
It can be used to test for certain forms of mitochondrial myopathy. It is named for George Gömöri, who developed it in 1950. ...
Which hasn't been the case the last couple of years." Mitochondrial myopathy is a rare condition in which the body's cellular ... At a loss, he speculated that a condition known as mitochondrial myopathy might be responsible for the difficulty he was having ... "Greg LeMond Ending Career", Samuel Abt, International Herald Tribune, December 3, 1994 "Mitochondrial Myopathies Information ...
He died of mitochondrial myopathy in Comox, British Columbia at the age of 61. After rehabilitating himself from a heroin ... Director of the Downtown Eastside Youth Activities Society for 20 years before being diagnosed with mitochondrial myopathy and ...
Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N (May 2005). "Mitochondrial myopathy and sideroblastic ... causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303-8. doi: ... causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303-8. doi: ... The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia. Pseudouridine kinase ...
... myopathy, uncoupled mitochondrial respiration, and dysregulated mTORC1 signaling". Proceedings of the National Academy of ...
For example, genetic mutations in pseudouridine synthases cause mitochondrial myopathy, sideroblastic anemia (MLASA) and ... causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303-1308. doi: ... C-to-U editing often occurs in the mitochondrial RNA of flowering plants. Different plants have different degrees of C-to-U ... The editing sites are found primarily upstream of mitochondrial or plastid RNAs. While the specific positions for C to U RNA ...
"Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene". Annals of ... encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts". Human Molecular Genetics. 10 (26): ... Her research strongly focused on Mitochondrial Genetics (1994-2007), with several awarded original articles out of more than 50 ...
April 2010). "Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation". Archives of Disease in ... A study of mitochondrial morphology in patients with mutations in this gene revealed disorganization of the mitochondrial ... mitochondrial myopathy, and cardiomyopathy. The TMEM70 gene has 4 exons and is located on the q arm of chromosome 8 in position ... mitochondrial myopathy and cardiomyopathy, hepatomegaly, hypoplastic kidneys, and elevated lactate levels in urine, plasma, and ...
... use is limited due to high cost and risk of vision loss or myopathy (due to mitochondrial damage); Tigecycline - used to kill ...
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. On biopsy, the muscle tissue of ... ophthalmoparesis Symptomatic overlap with other mitochondrial myopathies Mitochondrial myopathy literally means mitochondrial ... Metabolic Myopathies "Mitochondrial Myopathy Information Page , National Institute of Neurological Disorders and Stroke". www. ... There are several subcategories of mitochondrial myopathies. Signs and symptoms include (for each of the following causes): ...
What is Mitochondrial Myopathy?. The word "myopathy" means disease of the muscle tissue. As the term implies, mitochondrial ... Mitochondrial myopathy may be present in adults and children, and may occur with or without a genetic mitochondrial disease ... Many patients with mitochondrial disease have a mitochondrial myopathy, either as their sole diagnosis or as an additional, ... Are there treatments for mitochondrial myopathy? Other management strategies?. *What are the most common symptoms of ...
We report on two patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults ... Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome Ann Neurol. ... We report on two patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults ... and that it can be differentiated from two other clinical disorders that also are associated with mitochondrial myopathy and ...
Our report provides evidence of the association of ENDOG variants with mitochondrial myopathy. ... mitochondrial myopathy and multiple mtDNA deletions in muscle. The absence of the ENDOG protein in the patients muscle and ... Although its precise biological function remains unclear, its proximity to mitochondrial DNA (mtDNA) makes it an excellent ... the patients clinical presentation is very similar to mitochondrial diseases caused by mutations in other genes involved in ...
MOLECULAR BASIS OF MITOCHONDRIAL RNA PROCESSING SYSTEM IN DEVELOPMENTAL TISSUES AND IN MITOCHONDRIAL MYOPATHY.. Research ... Publications] DiMauro S.et al.: The mitochondrial DNA C3303T point mutation can cause cardionyopathy, myopathy,(or Goth). J. ... One patient had a clinically and pathologically defined Leigh syndrome (LS), two showed mitochondrial myopathy, encephalopathy ... mitochondrial DNA / MELAS / mitochondrial RNA / processing / RNA 19 / tissue specificity / point mutation / respiratory chain ...
Mitochondrial dysfunction elicits various stress responses in different model systems, but how these responses relate to each ... Mitochondrial myopathy (MM) is the most common manifestation of adult-onset mitochondrial disease and shows a multifaceted ... mTORC1 regulates mitochondrial integrated stress response and mitochondrial myopathy progression. Khan, Nahid A.; Nikkanen, ... mitochondrial unfolded protein response. We show that these processes are part of one integrated mitochondrial stress response ...
keywords = "Mitochondrial DNA, Mitochondrial myopathy, Molecular diagnosis, NGS diagnosis of mitochondrial disorders, Oxidative ... Being the mitochondrial function under the control of both mitochondrial DNA and nuclear DNA, the search for mitochondrial DNA ... Being the mitochondrial function under the control of both mitochondrial DNA and nuclear DNA, the search for mitochondrial DNA ... Being the mitochondrial function under the control of both mitochondrial DNA and nuclear DNA, the search for mitochondrial DNA ...
... mainly in the field of mitochondrial diseases, congenital myopathies such as myosin myopathies and glycogen storage diseases. ... The research was initially focussed on mitochondrial diseases in an interdisciplinary network of pioneers in the mitochondrial ... THEME: Mitochondrial Myopathies​. …PRESENTER: Prof. Dr. Anders Oldfors (University of Gothenburg and Sahlgrenska University ... His interest in pathology of mitochondrial diseases has continued over the years and he has published more than 90 scientific ...
Hydrogen-enriched water for mitochondrial and inflammatory myopathies. In Human studies, Muscle by CHESS. October 17, 2013. ... and five patients with mitochondrial myopathies (MM), and measured 18 serum parameters as well as urinary 8-isoprostane every 4 ... crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies. Med Gas Res. 2011;1:24. ... Hydrogen-enriched water improves mitochondrial dysfunction in MM and inflammatory processes in PM/DM. Less prominent effects ...
I work with a lady who has suffered all of her life with Mitochondrial Myopathy. Although genetic engineering sounds bad. This ... This Is Great News For Mitochondrial Myopathy Sufferers. This is the place where Brummies used to chat about Birmingham old and ... I work with a lady who has suffered all of her life with Mitochondrial Myopathy. Although genetic engineering sounds bad. This ... This Is Great News For Mitochondrial Myopathy Sufferers #1 by Sheldonboy , Tue Feb 03, 2015 7:36 pm ...
Autosomal dominant mitochondrial myopathy with exercise intolerance. A rare mitochondrial oxidative phosphorylation disorder ... Mitochondrial myopathyNeurometabolic diseaseMitochondrial oxidative phosphorylation disorder with no known mechanism ... Autosomal dominant mitochondrial myopathy with exercise intolerance. Get in touch with RARE Concierge.. Contact RARE Concierge ... Autosomal dominant mitochondrial myopathy with exercise intolerance?. Our RARE Concierge Services Guides are available to ...
Metabolic myopathies affect the metabolism of carbohydrates, in particular glucose and fats, which are the two main energy ... METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY. ... Home / Muscle Disorders / METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES ... although mitochondrial disorders are the most common cause of metabolic myopathies with a prevalence of 1:8,000. The most ...
Mitochondrial myopathy caused by long-term zidovudine therapy.. M C Dalakas, I Illa, G H Pezeshkpour, J P Laukaitis, B Cohen, J ... We conclude that long-term therapy with zidovudine can cause a toxic mitochondrial myopathy, which coexists with a T-cell- ... mediated inflammatory myopathy that is restricted to MHC-I antigen, and is indistinguishable from the myopathy associated with ... cause myopathy. To identify criteria for distinguishing zidovudine-induced myopathy from that caused by primary HIV infection, ...
He had a family history of mitochondrial myopathy. He had increased levels of serum creatine kinase and lactate. Muscle biopsy ... The diagnosis of mitochondrial myopathy (MM) is reliant on the combination of history and physical examination, muscle biopsy, ... are a group of multi-system diseases caused by abnormalities in mitochondrial DNA (mtDNA) or mutations of nuclear DNA (nDNA). ... Mitochondrial myopathies (MMs) are a group of multi-system diseases caused by abnormalities in mitochondrial DNA (mtDNA) or ...
Mitochondrial Myopathies (National Institute of Neurological Disorders and Stroke) * What Is Mitochondrial Disease (Muscular ... Mitochondrial complex I deficiency: MedlinePlus Genetics (National Library of Medicine) * Mitochondrial complex III deficiency ... Mitochondrial complex V deficiency: MedlinePlus Genetics (National Library of Medicine) * Mitochondrial encephalomyopathy, ... Article: Significance of Mitochondrial Dysfunction in the Pathogenesis of Parkinsons Disease. * Mitochondrial Diseases -- see ...
... Montano, Vincenzo;Gruosso, ... and specific biomarkers can be considered reliable outcome measures in patients with primary mitochondrial myopathy (PMM), we ... and specific biomarkers can be considered reliable outcome measures in patients with primary mitochondrial myopathy (PMM), we ... Patients with either mitochondrial or nuclear DNA point mutations performed worse in functional measures than patients ...
Nemaline myopathy. 4. Mitochondrial Myopathies *Mitochondrial Myopathies. 5. Metabolic Disorders. *Metabolic disorders (general ...
Mitochondrial Myopathies. Mitochondrial myopathies are disorders with a broad spectrum of clinical presentations due to ... Congenital Myopathies and Tubular Aggregate Myopathy. Congenital myopathies are a diverse group of disorders with the common ... The terms immune-mediated myopathy, autoimmune myopathy, and inflammatory myopathy will be used interchangeably in this section ... "Nemaline myopathy" in the Congenital Myopathies and Tubular Aggregate Myopathy section). The pathologist must be vigilant not ...
Primary mitochondrial myopathy (PMM). *Progressive supranuclear palsy. *Senior-Loken syndrome. *Severe and complex disability ( ... Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and risk markers ...
Primary mitochondrial myopathies in childhood. Olimpio C, Tiet MY, Horvath R. Neuromuscul Disord. 2021 Oct;31(10):978-987. doi ... Multisystem mitochondrial disease caused by a rare m.10038G,A mitochondrial tRNAGly (MT-TG) variant. Poole OV, Horga A, Hardy ... Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease. ... 2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over ...
Nuclear but not mitochondrial genome involvement in human age-related mitochondrial dysfunction. Functional integrity of ... is responsible for the in vivo age-related mitochondrial dysfunction observed in human skin fibroblasts. ... mitochondrial DNA from aged subjects J Biol Chem. 1994 Mar 4;269(9):6878-83. ... Mitochondrial Myopathies / genetics * Protein Biosynthesis * Sequence Deletion * Skin / enzymology* * Transfection Substances * ...
Primary Mitochondrial Myopathy. Astellas Pharma Inc. is sponsoring a study to assess the safety and tolerability of ASP0367 in ... placebo-controlled trial in patients with genetically confirmed and clinically diagnosed primary mitochondrial myopathy (PMM). ... patients with primary mitochondrial myopathy. The effect of ASP0367 on functional improvement and fatigue will also be ... study to evaluate the safety and efficacy of a 24-week treatment with REN001 in patients with primary mitochondrial myopathy. ...
Mitochondrial myopathy associated with a novel mutation in mtDNA.. Pancrudo, Jacklyn; Shanske, Sara; Coku, Jorida; Lu, J; ...
Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene. Lookup NU author(s): Dr Margaret ... We describe a young woman with a progressive mitochondrial myopathy that started with muscle weakness and went on to include ... Skeletal muscle showed the histological and biochemical features of mitochondrial respiratory chain dysfunction. Genetic ...
Mitochondrial Myopathies and Ocular Myopathies. (T. Klopstock, Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum ... Anoctamine 5 Myopathies. (Anthony Behin and Bruno Eymard, Centre de Référence des Maladies Neuromusculaires Rares Paris-Est ... Myofibrillar Myopathies. (Duygu Selcen and Andrew G. Engel, Mayo Clinic, MN, USA) ...
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE NCBI Gene ClinVar Horvath R ...
Niacin delayed disease progression in patients with mitochondrial myopathy, a progressive ... Differences in MS Patients ...
Mitochondrial myopathy presenting as rhabdomyolysis. J Am Osteopath Assoc. 2011 Jun; 111 (6):404-5 View PubMed ...
Lethal Infantile Mitochondrial Myopathy ADPD. Alzeimers Disease and Parkinsonss Disease. MMC. Maternal Myopathy and ... Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes. LDYT. Lebers hereditary optic neuropathy and ... MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: Coding and Control Region Point Mutations ... These mutations are generally accepted by the mitochondrial research community as being pathogenic. A status of "Cfrm" is not ...
Mitochondrial myopathies are associated with mitochondrial diseases which are caused by certain nuclear DNA deletions and ... Mitochondrial Myopathy Diagnosis & Treatment Market Analysis, Global Industry Trends, Size, Share, Growth and Strategy by ... Mitochondrial myopathies affect mitochondria which is responsible for energy production within a cell associated with ... mitochondrial disease. Thus, they cause low energy and free radical production which results in a variety of symptoms. ...
  • Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. (wikipedia.org)
  • Mitochondrial myopathies affect mitochondria which is responsible for energy production within a cell associated with mitochondrial disease. (sbwire.com)
  • He also served on the board of trustees of the United Mitochondrial Disease Foundation from 1999 to 2006, was a member of the UMDF's Scientific and Medical Advisory board, and was reappointed to the board of trustees in 2010. (mitoaction.org)
  • Mitochondrial dysfunction elicits various stress responses in different model systems, but how these responses relate to each other and contribute to mitochondrial disease has remained unclear. (slu.se)
  • Therefore, mitochondrial dysfunction can affect multiple tissues, with muscle and nerve preferentially affected. (elsevierpure.com)
  • Hydrogen-enriched water improves mitochondrial dysfunction in MM and inflammatory processes in PM/DM. (molecularhydrogenstudies.com)
  • Nuclear but not mitochondrial genome involvement in human age-related mitochondrial dysfunction. (nih.gov)
  • These observations support the idea that accumulation of nuclear recessive somatic mutations, but not mtDNA mutations, is responsible for the in vivo age-related mitochondrial dysfunction observed in human skin fibroblasts. (nih.gov)
  • iCPET is required to tease out deconditioning vs mitochondrial dysfunction vs preload dependence. (medscape.com)
  • His specialty interests include adult and pediatric neuro-oncology, mitochondrial medicine, neurofibromatosis, neurometabolic diseases and pediatric neurology. (mitoaction.org)
  • The research was initially focussed on mitochondrial diseases in an interdisciplinary network of pioneers in the mitochondrial disease field. (ern-euro-nmd.eu)
  • His interest in pathology of mitochondrial diseases has continued over the years and he has published more than 90 scientific articles in this field. (ern-euro-nmd.eu)
  • He started early to combine pathology and genetics in the lab to identify new muscle diseases, mainly in the field of mitochondrial diseases, congenital myopathies such as myosin myopathies and glycogen storage diseases. (ern-euro-nmd.eu)
  • Mitochondrial myopathies (MMs) are a group of multi-system diseases caused by abnormalities in mitochondrial DNA (mtDNA) or mutations of nuclear DNA (nDNA). (biomedcentral.com)
  • Mitochondrial diseases are a group of metabolic disorders. (medlineplus.gov)
  • Methods: Baseline data were collected from 118 patients with PMM, followed by centers of the Italian network for mitochondrial diseases. (unime.it)
  • Mitochondrial myopathies are associated with mitochondrial diseases which are caused by certain nuclear DNA deletions and mutations. (sbwire.com)
  • Background Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. (bmj.com)
  • This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. (medscape.com)
  • The cause may be genetic, such as a variation within the POLG (polymerase gamma) gene, which causes mitochondrial DNA (mtDNA) to become damaged and lose function. (wikipedia.org)
  • Although its precise biological function remains unclear, its proximity to mitochondrial DNA (mtDNA) makes it an excellent candidate to participate in mtDNA replication, metabolism and maintenance. (mdpi.com)
  • 2)Five unrelated patients harboring the A3243G mutation in the mitochondrial DNA (mtDNA) but presenting with different clinical phenotype were studied for their percentage of mutation at the single muscle fiber levels. (nii.ac.jp)
  • MMs are caused by abnormalities in mitochondrial DNA (mtDNA) which are transmitted via X-linked, autosomal-recessive, and autosomal-dominant inheritance patterns [ 3 ]. (biomedcentral.com)
  • Mitochondrial myopathy associated with a novel mutation in mtDNA. (bvsalud.org)
  • Methods We analysed the whole mtDNA in a cohort of 743 patients suspected of manifesting a mitochondrial disease, after excluding deletions and common mutations. (bmj.com)
  • We report on two patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults that resemble strokes (MELAS). (nih.gov)
  • One patient had a clinically and pathologically defined Leigh syndrome (LS), two showed mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS), another showed progressive external ophthalmoplegia (PEO), and the other showed mitochondrial diabetes mellitus (MDM). (nii.ac.jp)
  • The term congenital lactic acidosis (CLA) refers to a group of inborn errors of mitochondrial metabolism variably characterised by progressive neuromuscular deterioration and accumulation of lactate and hydrogen ions in blood, urine and/or cerebrospinal fluid, frequently resulting in early death. (bmj.com)
  • Objective: To determine whether a set of functional tests, clinical scales, patient-reported questionnaires, and specific biomarkers can be considered reliable outcome measures in patients with primary mitochondrial myopathy (PMM), we analyzed a cohort of Italian patients. (unime.it)
  • The Children's Hospital of Philadelphia is conducting a new study focusing on patients with Primary Mitochondrial Myopathy (PMM). (chop.edu)
  • Dr. Cohen is well-known and highly respected as an expert author, speaker, clinician and research investigator in mitochondrial disorders. (mitoaction.org)
  • We believe that MELAS represents a distinctive syndrome and that it can be differentiated from two other clinical disorders that also are associated with mitochondrial myopathy and cerebral disease: Kearns-Sayre syndrome and the myoclonus epilepsy ragged red fiber syndrome. (nih.gov)
  • Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. (globalgenes.org)
  • Incidence and prevalence are still largely unknown, although mitochondrial disorders are the most common cause of metabolic myopathies with a prevalence of 1:8,000. (medicover-genetics.com)
  • The remainder of this article addresses the key clinical characteristics and pathologic findings on muscle biopsy of selected examples of disorders from 4 different categories of muscle disease: immune-mediated (inflammatory) myopathies, muscular dystrophies, metabolic myopathies, and congenital myopathies. (medscape.com)
  • In this week's roundup, learn about new findings in obesity and vitamin D, predicting early sepsis, and mitochondrial disorders. (chop.edu)
  • It is now known that certain nuclear DNA deletions can also cause mitochondrial myopathy such as the OPA1 gene deletion. (wikipedia.org)
  • Being the mitochondrial function under the control of both mitochondrial DNA and nuclear DNA, the search for mitochondrial DNA mutations and mitochondrial DNA quantitation, may not be sufficient for the molecular diagnosis of mitochondrial myopathies. (elsevierpure.com)
  • Patients with either mitochondrial or nuclear DNA point mutations performed worse in functional measures than patients harboring single deletion, even if the latter had an earlier age at onset but similar disease duration. (unime.it)
  • These mutations are generally accepted by the mitochondrial research community as being pathogenic. (mitomap.org)
  • Many patients with mitochondrial disease have a mitochondrial myopathy, either as their sole diagnosis or as an additional, descriptive co-diagnosis as part of their mitochondrial disorder. (mitoaction.org)
  • Mitochondrial myopathy may be present in adults and children, and may occur with or without a genetic mitochondrial disease diagnosis. (mitoaction.org)
  • Approximately 1500 nuclear genes can affect mitochondrial structure and function and the targeting of such genes may be necessary to reach the diagnosis. (elsevierpure.com)
  • The identification of causative molecular defects in nuclear or mitochondrial genome leads to the definite diagnosis of mitochondrial myopathy. (elsevierpure.com)
  • The diagnosis of mitochondrial myopathy (MM) is reliant on the combination of history and physical examination, muscle biopsy, histochemical studies, and next-generation sequencing. (biomedcentral.com)
  • Metabolic myopathies affect the metabolism of carbohydrates, in particular glucose and fats, which are the two main energy sources of skeletal muscles. (medicover-genetics.com)
  • Hyperlactataemia is the defining biochemical abnormality in children with CLA and, in the absence of hypoxia, should be considered a surrogate marker for underlying failure of mitochondrial energy metabolism. (bmj.com)
  • A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life followed by weakness of neck flexor shoulder and distal leg muscles. (globalgenes.org)
  • To identify criteria for distinguishing zidovudine-induced myopathy from that caused by primary HIV infection, we reviewed the histochemical, immunocytochemical, and electron-microscopical features of muscle-biopsy specimens from 20 HIV-positive patients with myopathy (15 of whom had been treated with zidovudine) and compared the findings with the patients' clinical course and response to various therapies. (qxmd.com)
  • All the patients, regardless of whether they had been treated with zidovudine, had inflammatory myopathy characterized by degenerating fibers, cytoplasmic bodies, and endomysial infiltrates consisting of CD8+ cells (mean +/- SD, 60.7 +/- 6.4 percent) and macrophages (39.2 +/- 6.4 percent) associated with Class I major histocompatibility complex (MHC-I) antigens (HLA-A, -B, and -C antigens) in the muscle fibers. (qxmd.com)
  • We conclude that long-term therapy with zidovudine can cause a toxic mitochondrial myopathy, which coexists with a T-cell-mediated inflammatory myopathy that is restricted to MHC-I antigen, and is indistinguishable from the myopathy associated with primary HIV infection or polymyositis in HIV-seronegative patients. (qxmd.com)
  • These include direct myotoxicity (caused by alcohol, cocaine, glucocorticoids, and statins, amongst others), immunologically-induced inflammatory myopathy (caused by D-penicillamine, statins, and anti-cancer drugs), and indirect SKM injury (occurs as a result of a variety of different mechanisms). (degruyter.com)
  • The word "myopathy" means disease of the muscle tissue. (mitoaction.org)
  • As the term implies, mitochondrial myopathy (MM) is a neuromuscular disease caused by damage to the mitochondria. (mitoaction.org)
  • We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. (globalgenes.org)
  • We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational. (globalgenes.org)
  • MitoAction's mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease. (globalgenes.org)
  • The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure. (globalgenes.org)
  • The symptoms of mitochondrial disease can vary. (medlineplus.gov)
  • What Is Mitochondrial Disease? (medlineplus.gov)
  • Similar vacuoles can be observed in a variety of settings, including glycogen storage disease, colchicine toxic myopathy, critical care myopathy, the periodic paralyses, and technical artifact, among others. (medscape.com)
  • Evaluate the safety and efficacy of an investigational drug called "Elamipretide" in adult patients with mitochondrial disease. (chop.edu)
  • However, drug-induced myopathy is among the most frequent causes of muscle disease. (degruyter.com)
  • Niacin, a vitamin B3 form improves NAD+ levels and improves muscle strength and performance in patients with the progressive muscle disease, mitochondrial myopathy, according to an international team of scientists. (nutraingredients.com)
  • "Our results are a proof-of-principle that NAD+ deficiency exists in humans and that NAD+ boosters can delay progression of mitochondrial muscle disease" ​, Suomalainen-Wartiovaara comments. (nutraingredients.com)
  • The severity of cardiac disease is much gene, which is located on the Xcchromoc greater than the myopathy [ 4 ]. (who.int)
  • Needle gressive myopathy, but the disease spectrum electromyography showed polyphasicity, includes patients whose disease is much decreased duration and latency of motor more severe [ 8 ]. (who.int)
  • We performed open-label trial of drinking 1.0 liter per day of hydrogen-enriched water for 12 weeks in five patients with progressive muscular dystrophy (PMD), four patients with polymyositis/dermatomyositis (PM/DM), and five patients with mitochondrial myopathies (MM), and measured 18 serum parameters as well as urinary 8-isoprostane every 4 weeks. (molecularhydrogenstudies.com)
  • Among the zidovudine-treated patients, the myopathy responded to prednisone in four, to the discontinuation of zidovudine in eight, and to nonsteroidal anti-inflammatory drugs in two. (qxmd.com)
  • Specimens obtained on repeat muscle biopsy from two patients in whom the myopathy responded to the discontinuation of zidovudine showed remarkable histologic improvement. (qxmd.com)
  • In the current publication, a collaborative team of investigators led by Professor at University of Helsinki Anu Suomalainen-Wartiovaara and academy research fellow Eija Pirinen, studied five mitochondrial myopathy patients plus two sex- and age-matched healthy controls for each patient. (nutraingredients.com)
  • The team found that NAD+ levels are lower in both the blood and muscle of mitochondrial myopathy patients. (nutraingredients.com)
  • Niacin restored NAD+ in the muscle of the patients to the normal level and improved strength of large muscles and mitochondrial oxidative capacity. (nutraingredients.com)
  • The mitochondrial DNA C3303T point mutation can cause cardionyopathy, myopathy,(or Goth). (nii.ac.jp)
  • Endonuclease G (ENDOG) is a nuclear-encoded mitochondrial-localized nuclease. (mdpi.com)
  • However, the complete etiology of drug-induced myopathies remains unclear. (degruyter.com)
  • Newly diagnosed with Autosomal dominant mitochondrial myopathy with exercise intolerance? (globalgenes.org)
  • MELAS exhibits dominat negative effects on mitochondrial RNA processing' Annals of Neurology. (nii.ac.jp)
  • Is Type 2 Diabetes a Primary Mitochondrial Disorder? (mdpi.com)
  • CPET confirms the presence of deconditioning/myopathy, which is ubiquitous both in isolation or combined with another disorder, and quantifies its severity. (medscape.com)
  • What are the most common symptoms of mitochondrial myopathy? (mitoaction.org)
  • Mayo Clinic se esfuerza en publicar nuevos materiales traducidos con frecuencia. (mayoclinic.org)
  • Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation. (ucl.ac.uk)
  • The number of these fibers appeared to correlate with the severity of the myopathy. (qxmd.com)
  • Further, several clinical trials are currently examining the impact of various therapies or potential treatments for people with mitochondrial myopathy. (mitoaction.org)
  • However, it may also appear as chronic myopathy with severe weakness and, rarely, even as massive rhabdomyolysis with acute kidney injury (AKI). (degruyter.com)
  • The clinical picture of drug-induced myopathies may range from asymptomatic or mild myalgias, with or without muscle weakness, which are likely underreported, to chronic myopathy with severe weakness and rarely, even to massive rhabdomyolysis with acute kidney injury (AKI) [ 1 ]. (degruyter.com)
  • mTORC1 inhibition by rapamycin downregulated all components of ISRmt, improved all MM hallmarks, and reversed the progression of even late-stage MM, without inducing mitochondrial biogenesis. (slu.se)
  • Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation. (ucl.ac.uk)
  • Another longstanding and still ongoing project concerns inflammatory myopathies especially inclusion body myositis. (ern-euro-nmd.eu)