Mitochondrial Encephalomyopathies
A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
Myoclonic Cerebellar Dyssynergia
A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
MELAS Syndrome
A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
DNA, Mitochondrial
Leigh Disease
A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. (1/147)
A novel heteroplasmic 7587T-->C mutation in the mitochondrial genome which changes the initiation codon of the gene encoding cytochrome c oxidase subunit II (COX II), was found in a family with mitochondrial disease. This T-->C transition is predicted to change the initiating methionine to threonine. The mutation load was present at 67% in muscle from the index case and at 91% in muscle from the patient's clinically affected son. Muscle biopsy samples revealed isolated COX deficiency and mitochondrial proliferation. Single-muscle-fiber analysis revealed that the 7587C copy was at much higher load in COX-negative fibers than in COX-positive fibers. After microphotometric enzyme analysis, the mutation was shown to cause a decrease in COX activity when the mutant load was >55%-65%. In fibroblasts from one family member, which contained >95% mutated mtDNA, there was no detectable synthesis or any steady-state level of COX II. This new mutation constitutes a new mechanism by which mtDNA mutations can cause disease-defective initiation of translation. (+info)Mitochondrial disease in mouse results in increased oxidative stress. (2/147)
It has been hypothesized that a major factor in the progression of mitochondrial disease resulting from defects in oxidative phosphorylation (OXPHOS) is the stimulation of the mitochondrial production of reactive oxygen species (ROS) and the resulting damage to the mtDNA. To test this hypothesis, we examined the mitochondria from mice lacking the heart/muscle isoform of the adenine nucleotide translocator (Ant1), designated Ant1(tm2Mgr) (-/-) mice. The absence of Ant1 blocks the exchange of ADP and ATP across the mitochondrial inner membrane, thus inhibiting OXPHOS. Consistent with Ant1 expression, mitochondria isolated from skeletal muscle, heart, and brain of the Ant1-deficient mice produced markedly increased amounts of the ROS hydrogen peroxide, whereas liver mitochondria, which express a different Ant isoform, produced normally low levels of hydrogen peroxide. The increased production of ROS by the skeletal muscle and heart was associated with a dramatic increase in the ROS detoxification enzyme manganese superoxide dismutase (Sod2, also known as MnSod) in muscle tissue and muscle mitochondria, a modest increase in Sod2 in heart tissue, and no increase in heart mitochondria. The level of glutathione peroxidase-1 (Gpx1), a second ROS detoxifying enzyme, was increased moderately in the mitochondria of both tissues. Consistent with the lower antioxidant defenses in heart, the heart mtDNAs of the Ant1-deficient mice showed a striking increase in the accumulation of mtDNA rearrangements, whereas skeletal muscle, with higher antioxidant defenses, had fewer mtDNA rearrangements. Hence, inhibition of OXPHOS does increase mitochondrial ROS production, eliciting antioxidant defenses. If the antioxidant defenses are insufficient to detoxify the ROS, then an increased mtDNA mutation rate can result. (+info)A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G. (3/147)
When normal human cultured skin fibroblasts were treated with the fluorescent dye rhodamine 6G (R6G), there was a drastic reduction in numbers of intact mitochondria and electron transport chain enzyme activities, despite the fact that mitochondrial DNA (mtDNA) was still present in treated cells. We used this observation to develop a novel system for generating cybrids. When cultured skin fibroblast cells from a patient with the mitochondrial encephalopathy and ragged-red fibers (MERRF) syndrome harboring the A8344G mtDNA mutation and which showed a severe reduction in cytochrome c oxidase activity were treated with R6G and fused to enucleated HeLaCOT cells, the resulting cybrid clones showed recovery of cytochrome c oxidase activity, and were shown to have mtDNA derived solely from the HeLaCOT cell line. R6G has significant advantages over ethidium bromide in removing the mitochondrial elements from cultured cells, and the results reported here demonstrate that this strategy can be used to determine the origin of the genetic defect in patients with electron transport chain abnormalities. (+info)Multiple presentation of mitochondrial disorders. (4/147)
The aim of this study was to assess the heterogeneous clinical presentations of children with mitochondrial disorders evaluated at a metabolic neurogenetic clinic. The charts of 36 children with highly suspected mitochondrial disorders were reviewed. Thirty one children were diagnosed as having a mitochondrial disorder, based on a suggestive clinical presentation and at least one of the accepted laboratory criteria; however, in five children with no laboratory criteria the diagnosis remained probable. All of the patients had nervous system involvement. Twenty seven patients also had dysfunction of other systems: sensory organs in 15 patients, cardiovascular system in five, gastrointestinal system in 20, urinary system in four, haematopoietic system in four, and endocrine system in nine. The clinical presentation was compatible with an established syndrome in only 15 children. Severe lactic acidosis or ragged red muscle fibres were encountered in very few patients. These results suggest that mitochondrial disorders should be evaluated in children presenting with a complex neurological picture or multisystem involvement. (+info)The spectrum of hearing loss due to mitochondrial DNA defects. (5/147)
Heteroplasmic mitochondrial DNA (mtDNA) defects are an important cause of neurological disease. Although hearing impairment is common in patients with mtDNA defects, the spectrum and pathophysiology of the hearing loss is not well characterized. We therefore studied the relationship between cochlear and brainstem auditory function in 23 patients harbouring a range of different mtDNA mutations. Based upon the pure tone audiogram, patients fell into three distinct groups: (i) normal hearing, (ii) mild to moderate predominantly high frequency hearing loss, and (iii) severe or profound hearing loss at all frequencies. Within this study group only certain genetic defects were associated with hearing loss, and for individuals harbouring the A3243G point mutation, the severity of the hearing loss correlated with the percentage level of mutated mtDNA (mutation load) in skeletal muscle. The 10 patients who had a moderate hearing loss or less had normal brainstem auditory evoked responses and MRI, but it was not possible to interpret the brainstem auditory evoked responses in 13 patients with severe hearing loss. Otoacoustic emissions were absent in patients with a moderate or more severe hearing loss. These findings are consistent with a predominantly cochlear origin for the hearing deficit, which is determined by the precise genetic defect and the percentage mutation load. (+info)Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism. (6/147)
Mitochondrial encephalomyopathies caused by mitochondrial DNA (mtDNA) defects are a genetically and phenotypically heterogeneous group of disorders. The site, percentage and distribution of mutations do not explain the overall clinical heterogeneity that is found. Apoptosis (programmed cell death) is an evolutionarily conserved mechanism that is essential for tissue development and homeostasis. Dysregulation of apoptosis has been implicated in the pathogenesis of various human diseases, such as cancer and autoimmune and neurodegenerative disorders. Recent in vitro evidence has indicated the central role of mitochondria in the apoptotic process. We investigated the occurrence of apoptosis in muscle biopsies of 36 patients carrying different mtDNA mutations and four patients with inclusion body myositis and mitochondrial abnormalities. Apoptotic features, mainly localized in cytochrome c oxidase-negative fibres, were observed in muscle fibres of patients carrying a high percentage of single mtDNA deletions (>40%) and of tRNA point mutations (>70%). By contrast, no apoptotic changes were observed in inclusion body myositis and in patients carrying mutations of mtDNA structural genes. Our study suggests that apoptosis is not simply a means whereby cells with dysfunctional mitochondria are eliminated, but that it seems to play a role in the pathogenesis of mitochondrial disorders associated with mtDNA defects affecting mitochondrial protein synthesis. The imbalance and relative abundances of nuclear-encoded and mtDNA-encoded subunits may favour cytochrome c inactivation and release. Cytochrome c, together with respiratory chain dysfunction, could activate apoptotic pathways that, in turn, inhibit the rate of mitochondrial translation and the importation of nuclear-encoded mitochondrial protein precursors. This vicious circle may amplify the biochemical defects and tissue damage and contribute to the modulation of clinical features. (+info)Secondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation. (7/147)
A critical analysis of the literature of mitochondrial disorders reveals that genetic diseases of oxidative phosphorylation are often associated with impaired beta-oxidation, and vice versa, and preferentially affect brain, retina, heart and skeletal muscle, tissues which depend on docosahexaenoic (22:6n-3)-containing phospholipids for functionality. Evidence suggests that an increased NADH/NAD(+) ratio generated by reduced flux through the respiratory chain inhibits beta-oxidation, producing secondary carnitine deficiency while increasing reactive oxygen species and depleting alpha-tocopherol (alpha-TOC). These events result in impairment of the recently elucidated mitochondrial pathway for synthesis of 22:6n-3-containing phospholipids, since carnitine and alpha-TOC are involved in their biosynthesis. Therapeutic supplementation with 22:6n-3 and alpha-TOC is suggested. (+info)Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. (8/147)
Mutations in human mitochondrial tRNA genes are associated with a number of multisystemic disorders. Using an assay that combines tRNA oxidation and circularization we have determined the relative amounts and states of aminoacylation of mutant and wild-type tRNAs in tissue samples from patients with MELAS syndrome (mito- chondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) and MERRF syndrome (myoclonus epilepsy with ragged red fibers), respectively. In most, but not all, biopsies from MELAS patients carrying the A3243G substitution in the mitochondrial tRNA(Leu(UUR))gene, the mutant tRNA is under-represented among processed and/or aminoacylated tRNAs. In contrast, in biopsies from MERRF patients harboring the A8344G substitution in the tRNA(Lys)gene neither the relative abundance nor the aminoacylation of the mutated tRNA is affected. Thus, whereas the A3243G mutation may contribute to the pathogenesis of MELAS by reducing the amount of aminoacylated tRNA(Leu), the A8344G mutation does not affect tRNA(Lys)function in the same way. (+info)Mitochondrial Encephalomyopathies are a group of genetic disorders caused by dysfunctional mitochondria, characterized by neurological and muscular impairments, often accompanied by symptoms in other organs due to the vital role mitochondria play in energy production within cells.
Mitochondrial Encephalomyopathies are a group of genetic disorders that primarily affect the mitochondria, which are the energy-producing structures in cells. "Encephalo" refers to the brain, while "myopathy" refers to muscle disease. Therefore, Mitochondrial Encephalomyopathies are conditions that cause both neurological and muscular symptoms due to impaired mitochondrial function.
These disorders can affect any organ in the body, but they primarily impact the brain, nerves, and muscles. Symptoms may include muscle weakness, seizures, developmental delays, hearing loss, vision loss, heart problems, and lactic acidosis (a buildup of lactic acid in the blood).
Mitochondrial Encephalomyopathies can be caused by mutations in either the mitochondrial DNA or nuclear DNA. They are often inherited from the mother, as mitochondria are passed down through the maternal line. However, some cases can also result from new mutations that occur spontaneously.
Due to the complex nature of these disorders and their varying symptoms, diagnosis and treatment can be challenging. Treatment typically focuses on managing specific symptoms and may include medications, dietary changes, and physical therapy.
Myoclonic Cerebellar Dyssynergia is a neurological disorder characterized by involuntary muscle jerks or spasms (myoclonus) affecting the trunk and limbs, resulting from dysfunctional coordination (dyssynergia) between cerebellum and other motor control regions of the brain.
Myoclonic cerebellar dyssynergia is not a widely recognized or formally defined medical term. However, based on its individual components, it can be inferred to refer to a neurological condition characterized by:
1. Myoclonus: These are sudden, involuntary jerking movements of a muscle or group of muscles. They typically occur as a result of hyperexcitability of the neurons in the brain that control movement (motor neurons).
2. Cerebellar: The cerebellum is a part of the brain responsible for coordinating muscle movements, maintaining posture and balance, and fine-tuning motor skills. When a condition is described as "cerebellar," it implies that there is some dysfunction or abnormality in this region of the brain.
3. Dyssynergia: This term refers to a lack of coordination between muscles and muscle groups during voluntary movements. It can result from damage to the cerebellum or other parts of the nervous system involved in motor control.
Therefore, myoclonic cerebellar dyssynergia could be interpreted as a condition characterized by involuntary muscle jerks (myoclonus) and impaired coordination of voluntary movements (dyssynergia), likely due to cerebellar dysfunction. However, it is essential to consult with a medical professional for an accurate diagnosis and treatment plan if you or someone else experiences symptoms that may align with this description.
MELAS syndrome is a rare, genetic mitochondrial disorder characterized by recurrent headaches, stroke-like episodes, muscle weakness and degeneration, ragged red fibers on muscle biopsy, and often accompanied by hearing loss, diabetes mellitus, and other organ system involvement.
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is a rare inherited mitochondrial disorder that affects the body's energy production mechanisms. It is characterized by a combination of symptoms including recurrent headaches, vomiting, seizures, vision loss, hearing impairment, muscle weakness, and stroke-like episodes affecting primarily young adults.
The condition is caused by mutations in the mitochondrial DNA (mtDNA), most commonly the A3243G point mutation in the MT-TL1 gene. The symptoms of MELAS syndrome can vary widely among affected individuals, even within the same family, due to the complex inheritance pattern of mtDNA.
MELAS syndrome is typically diagnosed based on a combination of clinical features, laboratory tests, and genetic testing. Treatment is supportive and aimed at managing individual symptoms as they arise.
'DNA, Mitochondrial' refers to the circular double-stranded DNA found in the mitochondria, an organelle in the cell, which is essential for energy production and has a different structure and genetic code than nuclear DNA.
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.
Leigh Disease, also known as Subacute Necrotizing Encephalomyelopathy, is a rare inherited neurometabolic disorder typically presenting in infancy or early childhood, characterized by progressive degeneration of the central nervous system with symptoms such as vomiting, seizures, motor and cognitive regression, and symmetrical necrotic lesions in the basal ganglia and brainstem.
Leigh Disease, also known as Subacute Necrotizing Encephalomyelopathy (SNE), is a rare inherited neurometabolic disorder that affects the central nervous system. It is characterized by progressive degeneration of the brain and spinal cord. The condition typically appears in infancy or early childhood, although it can develop in adolescence or adulthood.
Leigh Disease is caused by mutations in mitochondrial DNA or nuclear genes that disrupt the function of the oxidative phosphorylation system, a part of the cellular energy production process. This results in decreased ATP (adenosine triphosphate) production and an accumulation of lactic acid in the body.
The symptoms of Leigh Disease can vary widely but often include vomiting, seizures, developmental delays, muscle weakness, loss of muscle tone, and difficulty swallowing and breathing. The condition can also cause lesions to form on the brainstem and basal ganglia, which can lead to further neurological problems.
There is no cure for Leigh Disease, and treatment is focused on managing symptoms and supporting affected individuals as they cope with the progression of the disease.
Mitochondrial encephalomyopathy
A mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial disease. MELAS ... August 1993). "Mitochondrial encephalomyopathy: variable clinical expression within a single kindred". J. Neurol. Neurosurg. ... March 2005). "Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF". Arch. Neurol. 62 (3 ... February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype". Arch. Neurol. 61 (2): ...
Chuan-Pu Lee
... salicylates and mitochondrial functions" (1984, with Margaret E. Martens) "Mitochondrial Encephalomyopathies" (1988, with ... Peterson, Patti L.; Martens, Margaret E.; Pu Lee, Chuan (1988-08-01). "Mitochondrial Encephalomyopathies". Neurologic Clinics. ... Her research involved mitochondrial bioenergetics, or a study of how energy is produced in bodies at the cellular level. Her ... Xiong, Ye; Shie, Feng-Shiun; Zhang, Jing; Lee, Chuan-Pu; Ho, Ye-Shih (2005). "Prevention of mitochondrial dysfunction in post- ...
Differential diagnoses of anorexia nervosa
Mitochondrial Neurogastrointestinal Encephalomyopathy Mimicking Anorexia Nervosa Article Archived 2011-06-11 at the Wayback ... Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder characterized by gastrointestinal ... "Mitochondrial Neurogastrointestinal Encephalomyopathy Mimicking Anorexia Nervosa". American Journal of Psychiatry. 166 (4): 494 ... Machine Mitochondrial Neurogastrointestinal Encephalopathy Disease Gerasimidis, T.; George, F. (2009). "Superior Mesenteric ...
Burlo Garofolo Pediatric Institute
Finally, the physiopathology of neurological damage in mitochondrial encephalomyopathies is explored. List of children's ... mitochondrial diseases and genetic immunodeficiencies such as IPEX syndrome, aiming at clarifying molecular mechanisms and ...
MT-TF
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the ... "Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes". Genetics Home Reference. U.S. National Library of ... 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 neurogastrointestinal encephalopathy syndrome
"Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy". Brain. 134 (11): 3326-3332. doi: ... Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP ... Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. It has ... These mitochondrial effects are responsible for the symptomatology associated with the disease. While the disease manifests ...
Ramsay Hunt syndrome type 1
... a condition unrelated to mitochondrial encephalomyopathies". Journal of Neurology, Neurosurgery, and Psychiatry. 52 (2): 262-5 ...
NADH dehydrogenase (ubiquinone), alpha 1
"X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy". Annals of Neurology. 61 (1): 73-83. doi: ... which pumps four hydrogen ions out of the mitochondrial matrix. Mitochondrial complex I deficiency (MT-C1D) is caused by ... Mutations in the NDUFA1 gene are associated with mitochondrial Complex I deficiency. The NDUFA1 gene is located on the long q ... The NDUFA1 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is ...
FBXL4
... encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy". American Journal of Human Genetics. 93 (3 ... Mutations in this gene cause early-onset mitochondrial encephalomyopathy. GRCh38: Ensembl release 89: ENSG00000112234 - Ensembl ... "Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance". American Journal of ...
Intestinal pseudo-obstruction
"Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy". Brain: A ... Finsterer, Josef; Frank, Marlies (January 2017). "Gastrointestinal manifestations of mitochondrial disorders: a systematic ... IPO is a known presentation for mitochondrial disease Endocrine disorders Certain medications. The term may be used ... lupus erythematosus and scleroderma lead to collagen vascular deposition and gastrointestinal motility disruption Mitochondrial ...
ACAD9
Exercise-induced rhabdomyolysis, mitochondrial encephalomyopathy, and hyperplasia in liver, cardiac myocytes, skeletal muscle, ... Acyl-CoA dehydrogenase family member 9, mitochondrial is an enzyme that in humans is encoded by the ACAD9 gene. Mitochondrial ... "Mitochondrial encephalomyopathy due to a novel mutation in ACAD9". JAMA Neurology. 70 (9): 1177-9. doi:10.1001/jamaneurol. ... "Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy". Muscle & ...
May-White syndrome
This syndrome is probably a familial form of mitochondrial encephalomyopathy. "May-White syndrome". TheFreeDictionary. ... v t e (Articles with short description, Short description matches Wikidata, Mitochondrial diseases, Neurotrauma, Syndromes, All ...
POLG
"Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy". ... "Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene ... of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase ... of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase ...
Ribonuclease H
July 2015). "RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy". American ... The defects in mitochondrial DNA replication induced by loss of RNase H1 are likely due to defects in R-loop processing. In ... In eukaryotes, ribonuclease H1 is involved in DNA replication of the mitochondrial genome. Both H1 and H2 are involved in ... Cerritelli SM, Frolova EG, Feng C, Grinberg A, Love PE, Crouch RJ (March 2003). "Failure to produce mitochondrial DNA results ...
SUCLA2
"Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations". primary source. Brain. 130 (Pt ... "Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 ... "Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA ... Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on ...
Thymidine phosphorylase
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the ... "Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations ... Because mitochondrial DNA (mtDNA) depends strongly on thymidine salvage (more so than nuclear DNA), it suffers damage from ... Nishino I, Spinazzola A, Hirano M (January 1999). "Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial ...
FASTKD2
... has been linked to mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency (mitochondrial ... FASTKD2 has been implicated in mitochondrial encephalomyopathy, breast cancer, and prostate cancer. FASTKD2 shares structural ... As a member of the FASTKD family, FASTKD2 localizes to the inner mitochondrial membrane to modulate their energy balance, ... The ultrastructural appearance of necrosis is quite different, the main features being mitochondrial swelling, plasma membrane ...
MTRF1L
"Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect". The American Journal of Human ... Mitochondrial translational release factor 1-like is a protein that in humans is encoded by the MTRF1L gene. Mitochondrial DNA ... "Entrez Gene: Mitochondrial translational release factor 1-like". Retrieved 2011-09-20. "Clinical chemistry data for Mtrf1l". ... Nozaki, Y.; Matsunaga, N.; Ishizawa, T.; Ueda, T.; Takeuchi, N. (2008). "HMRF1L is a human mitochondrial translation release ...
MT-TE
"Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA". Journal of Child Neurology. 22 (7 ... The mutations involved in infantile transient mitochondrial myopathy change single nucleotides in mitochondrial DNA. These ... The MT-TE gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 68 base pairs. The structure of a ... Infantile transient mitochondrial myopathy, also known as benign COX deficiency myopathy, is a rare disease which occurs within ...
SDHD
"Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency". Journal of ... Mitochondrial complex II deficiency (MT-C2D), a disorder of the mitochondrial respiratory chain with heterogeneous clinical ... SDHD forms part of the transmembrane protein dimer with SDHC that anchors Complex II to the inner mitochondrial membrane. The ... Eng C, Kiuru M, Fernandez MJ, Aaltonen LA (March 2003). "A role for mitochondrial enzymes in inherited neoplasia and beyond". ...
MT-TT
... gene associated with a mitochondrial encephalomyopathy". Biochemical and Biophysical Research Communications. 225 (1): 180-5. ... The MT-TT gene is located on the p arm of the non-nuclear mitochondrial DNA at position 12 and it spans 66 base pairs. The ... Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y (August 1996). "A novel mutation in the mitochondrial tRNA ... Mitochondrially encoded tRNA threonine also known as MT-TT is a transfer RNA which in humans is encoded by the mitochondrial MT ...
SUCLG2
"Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 ... Though mitochondrial DNA (mtDNA) depletion syndrome has been largely attributed to SUCLA2 deficiency, SUCLG2 may play a more ... Succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial is an enzyme that in humans is encoded by the SUCLG2 gene on ... As a subunit of SCS, SUCLG2 is a mitochondrial matrix enzyme that catalyzes the reversible conversion of succinyl-CoA to ...
NDUFAF4
Mutations in this gene have been associated with complex I deficiency and infantile mitochondrial encephalomyopathy. Elevations ... Mitochondrial diseases are disorders that are the result of the dysfunction of the mitochondrial respiratory chain. They can ... Clinically, NDUFAF4 mutations have been associated with infantile mitochondrial encephalomyopathy, with lactic acidosis, ... Mutations in NDUFAF4 (HRPAP20) have been associated with mitochondrial complex I deficiency, infantile mitochondrial ...
TYMP (gene)
1994). "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an ... Thymidine phosphorylase activity in leukocytes from mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients was ... and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Thymidine phosphorylase is angiogenic growth factor which ... A new mitochondrial multisystem disorder". Acta Neuropathol. 74 (3): 248-58. doi:10.1007/BF00688189. PMID 2823522. S2CID ...
Myoclonus
It is also found in MERRF (Myoclonic Epilepsy with Ragged Red Fibers), a rare mitochondrial encephalomyopathy. Jerks of muscle ...
SUCLG1
Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic ... As mitochondrial DNA depletion in muscle is not a constant finding in SUCLG1 patients, diagnosis should not be based on it; ... Succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial is an enzyme that in humans is encoded by the SUCLG1 gene. The ... Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion ...
AIFM1
... leading to severe mitochondrial encephalomyopathy. Clinical manifestations of this mutation are characterized by muscular ... Apoptosis-inducing factor 1, mitochondrial is a protein that in humans is encoded by the AIFM1 gene on the X chromosome. This ... Ferri KF, Jacotot E, Blanco J, Esté JA, Kroemer G (2001). "Mitochondrial control of cell death induced by HIV-1-encoded ... AIFM1 is expressed as a 613-residue precursor protein that containing a mitochondrial targeting sequence (MTS) at its N- ...
MT-TR
"A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy". ... Mutations in MT-TR have been associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS ... "Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire ... The MT-TR gene is located on the p arm of the non-nuclear mitochondrial DNA at position 12 and it spans 65 base pairs. The ...
Mitochondrial DNA depletion syndrome
"Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA ... Wang H, Han Y, Li S, Chen Y, Chen Y, Wang J, Zhang Y, Zhang Y, Wang J, Xia Y, Yuan J (2021). "Mitochondrial DNA Depletion ... Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that ... It is associated with the mutations of mitochondrial genes in the nucleus and several genes including TK2, FBXL4, are known to ...
Chronic progressive external ophthalmoplegia
This mutation is associated with both CPEO and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ( ... Mitochondrial DNA which is transmitted from the mother, encodes proteins that are critical to the respiratory chain required to ... It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other ... One mutation is located in a conserved region of mitochondrial tRNA at nucleotide 3243 in which there is an A to G nucleotide ...
Mitochondrial encephalomyopathy - Wikipedia
A mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial disease. MELAS ... August 1993). "Mitochondrial encephalomyopathy: variable clinical expression within a single kindred". J. Neurol. Neurosurg. ... March 2005). "Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF". Arch. Neurol. 62 (3 ... February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype". Arch. Neurol. 61 (2): ...
Mitochondrial encephalomyopathies: gene mutation
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy
... Pediatr Neurol ... led to pathologic and genetic testing that identified a A3243G mitochondrial DNA point mutation associated with mitochondrial, ... encephalomyopathy, lactic acidosis, and strokelike episodes. This case emphasizes that occipital epileptic seizures can be the ... only presenting and long-lasting sign in patients with mitochondrial, encephalomyopathy, lactic acidosis, and strokelike ...
MELAS - Mitochondrial Encephalomyopathy, Lactic Acidosis, Strokelike Episodes: Overview of MELAS, Epidemiology of MELAS,...
Patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) have strokelike ... Mitochondrial Encephalomyopathy, Lactic Acidosis, Strokelike Episodes * Sections MELAS - Mitochondrial Encephalomyopathy, ... Mitochondrial Encephalomyopathy%2C Lactic Acidosis%2C Strokelike Episodes) and MELAS - Mitochondrial Encephalomyopathy, Lactic ... Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) is a mitochondrial genetic disease with the ...
Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial...
Localized brain proton MR spectra were acquired from patients with different mitochondrial encephalomyopathies (myoclonus ... and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS]). The regional brain metabolic ... MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies ... MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies ...
Mitochondrial neurogastrointestinal encephalomyopathy - Global Genes
Mitochondrial neurogastrointestinal encephalomyopathy. Synonyms: MNGIE. Mitochondrial NeuroGastroIntestinal Encephalomyopathy ( ... Mitochondrial myopathyMitochondrial disease with epilepsyMitochondrial disease with peripheral neuropathyMitochondrial DNA ... Mitochondrial neurogastrointestinal encephalomyopathy. Get in touch with RARE Concierge.. Contact RARE Concierge ... Mitochondrial neurogastrointestinal encephalomyopathy?. Our RARE Concierge Services Guides are available to assist you by ...
Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy | Encyclopedia MDPI
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. ... Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the ... Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal and rare autosomal recessive disorder of nucleotide ... Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes . Neurologist. Retrieved 2019-7-23 ...
A 31P-magnetic resonance spectroscopy and biochemical study of the mo(vbr) mouse: potential model for the mitochondrial...
We assessed the mo(vbr) (mottled viable brindled) mouse for its value in studying (1) energetics of a mitochondrial disorder ... We conclude that mo(vbr) brain and muscle tissue have biochemical abnormalities consistent with mitochondrial impairment. The ... To elucidate the mechanisms of mitochondrial abnormalities, however, animal models are needed. ... This strain is best described as having chronic mitochondrial dysfunction. ...
Mitochondrial DNA: MedlinePlus Genetics
Mitochondrial DNA (mtDNA) is DNA contained in structures called mitochondria rather than the nucleus. Learn about genetic ... Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Mutations in at least five mitochondrial genes, MT- ... Mitochondrial complex III deficiency. Mutations in the MT-CYB gene found in mitochondrial DNA can cause mitochondrial complex ... ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV, can cause the characteristic features of mitochondrial encephalomyopathy, lactic ...
Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy - McMaster Experts
A NEW POINT MUTATION ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOMYOPATHY - Nuffield Department of Women's & Reproductive Health
MELAS - Mitochondrial Encephalomyopathy, Lactic Acidosis, Strokelike Episodes: Overview of MELAS, Epidemiology of MELAS,...
Patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) have strokelike ... Mitochondrial Encephalomyopathy, Lactic Acidosis, Strokelike Episodes * Sections MELAS - Mitochondrial Encephalomyopathy, ... Mitochondrial Encephalomyopathy%2C Lactic Acidosis%2C Strokelike Episodes) and MELAS - Mitochondrial Encephalomyopathy, Lactic ... MELAS - Mitochondrial Encephalomyopathy, Lactic Acidosis, Strokelike Episodes Overview of MELAS. Updated: Dec 09, 2014 ...
A P-31-magnetic resonance spectroscopy and biochemical study of the mo(vbr) mouse: Potential model for the mitochondrial...
ICGNMD Publications | International Centre for Genomic Medicine in Neuromuscular Diseases - UCL - University College London
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Bugiardini E, Mitchell AL, Rosa ID, Horning-Do ... 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 ...
EEG in Dementia and Encephalopathy: Overview, Dementia, Vascular Dementia
On the basis of further investigations, the final diagnosis was mitochondrial encephalomyopathy. In general, the EEG changes ... What EEG findings are characteristic of mitochondrial encephalomyopathy?. What EEG findings are characteristic post ... Mitochondrial encephalopathy with lactic acidosis and stroke (MELAS) and myoclonus epilepsy with ragged red fibers (MERRF). ...
Metabolic disease - New World Encyclopedia
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS) *varying degrees of cognitive impairment and ... Mitochondrial disease. Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles in which ... Not all of the enzymes and other components necessary for proper mitochondrial function are encoded in the mitochondrial DNA; ... The effects of mitochondrial disease can be quite varied, depending on the organ affected by the abnormal mitochondria. Since ...
Treatment of congenital lactic acidosis with dichloroacetate | Archives of Disease in Childhood
1987) Mitochondrial encephalomyopathy. A variant with heart failure and liver steatosis. Acta Neuropathol (Berl) 74:287-293. ... 1994) Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, ... 1992) Mitochondrial genetics: a paradigm for aging and degenerative diseases? Science 256:628-632. ... 1989) Mitochondrial myopathy and cardiomyopathy in siblings. Pediatr Neurol 5:182-188. ...
Geometry.Net - Health Conditions: Chronic Progressive External Ophthalmoplegia
A3243G - Abstract - A Case Of Mitochondrial Encephalomyopathy Showing Ophthalmop We report a 47year-old female patient showing ... MITOCHONDRIAL MYOPHATHIES. CPEO (CPEO) (chronic progressive externalophthalmoplegia); KSS (KSS) * updated Nov/02 (KearnsSayre ... Abstract Introduction The metabolic consequences of large rearrangements of mitochondrial DNA in skeletal muscle of patients ... Causes and symptoms Ocular myopathy is also known as mitochondrial encephalomyelopathy with ophthalmoplegia or progressive ...
Cells | Free Full-Text | Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
Although its precise biological function remains unclear, its proximity to mitochondrial DNA (mtDNA) makes it an excellent ... 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 ... the patients clinical presentation is very similar to mitochondrial diseases caused by mutations in other genes involved in ...
ConsumerLab.com News: Tests of CoQ10 Supplements - ConsumerLab.com
Index by author - March 01, 1991, 12 (2) | American Journal of Neuroradiology
Genetic Brain Disorders | MedlinePlus
MutationsCodingControl | MITOMAP | Foswiki
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 ...
STEM CELL TRANSPLANT EFFECTIVE FOR MNGIE : Neurology Today
Yavuz H, Ozel A, Christensen M. Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis. Arch Neurol ... Hirano M, Nishigaki Y, Mart〉 R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): A disease of two genomes. ... A British neuroscientist who specializes in mitochondrial disorders said the case report is proof of principle that offers hope ... CHICAGO-Noteworthy clinical gains have resulted from an allogeneic stem cell transplantation in a patient with mitochondrial ...
World Journal of Clinical Cases - Baishideng Publishing Group
WikiGenes - FH - fumarate hydratase
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. Zinn, A.B., Kerr, D.S., Hoppel, C.L. N. Engl. J. Med. ( ... a deficiency of both the mitochondrial and cytosolic forms of fumarase in a male infant with mitochondrial encephalomyopathy ... Mitochondrial import of human and yeast fumarase in live mammalian cells: retrograde translocation of the yeast enzyme is ... Mitochondrial mutations in cancer. Brandon, M., Baldi, P., Wallace, D.C. Oncogene (2006) [Pubmed] ...
Clinical aspects of hereditary hearing loss | Genetics in Medicine
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: prevalence ... Fischel-Ghodsian N . Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics. Am J Hum Genet 1998; 62: 15 ... Mitochondrial nonsyndromic hearing impairment. Some mitochondrial DNA mutations cause nonsyndromic hearing loss (Table 7). In ... Human deafness dystonia syndrome is a mitochondrial disease. Proc Natl Acad Sci U S A 1999; 96: 2141-2146. ...
Indication-specific dosing for (coenzyme Q10), frequency-based adverse effects, comprehensive interactions, contraindications,...
Efficacy may be effective in CHF, MI, mitochondrial encephalomyopathies. Reduces BP; more studies need before recommendation in ... Mitochondrial Cytopathies (Orphan). Orphan indication sponsor. *Gel-Tec, Division of TISHCON Corporation; 30 New York Avenue; ... mitochondrial cytopathies, muscular dystrophies, myopathy (statin-induced) ...
Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes | eLife
Inducing the formation of mitochondrial respiratory chain supercomplexes in Drosophila melanogaster, where they are normally ... 2008) Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy Cell Metabolism 7:312-320. ... 2022a) Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals Frontiers in Cell and ... 2012) Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity Human Molecular ...
Items where Author or Editor is "Quinlivan, Rosaline" - Kölner UniversitätsPublikationsServerNeurogastrointestinalLactic acidosisMNGIEMutationMutations in mitochondrialMitochondriaMtDNAMyopathyDysfunctionLiving with mitochondrial diseaseDiseasesDeletionsDisordersEncephalopathyDisorderRespiratory chainClinicalMELASGeneInner mitochonHumansDeficienciesDefectsMolecularAdvancesAbnormalitiesGenes associatedImpairDeficiencyInheritanceNuclear-encodedPathogenicPatientsAbnormalityUltimatelyMedicineProtonFunction
Neurogastrointestinal7
- Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility peripheral neuropathy chronic progressive external ophthalmoplegia and leukoencephalopathy. (globalgenes.org)
- Newly diagnosed with Mitochondrial neurogastrointestinal encephalomyopathy? (globalgenes.org)
- Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy" Encyclopedia , https://encyclopedia.pub/entry/93 (accessed November 30, 2023). (encyclopedia.pub)
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the nuclear TYMP gene, which encodes for thymidine phosphorylase, an enzyme required for the normal metabolism of deoxynucleosides, thymidine, and deoxyuridine. (encyclopedia.pub)
- CHICAGO-Noteworthy clinical gains have resulted from an allogeneic stem cell transplantation in a patient with mitochondrial neurogastrointestinal encephalomyopathy, or MNGIE, a Columbia University neurologist reported at the AAN annual meeting here in April. (lww.com)
- Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. (unito.it)
- This workshop aimed to improve the clinical recognition, diagnosis, and treatment of these patients with focused discussion on treatments for two diseases: thymidine kinase 2 (TK2) deficiency and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (enmc.org)
Lactic acidosis10
- The eventual development of status epilepticus, associated with a T(1) hypointense as well as T(2), fluid-attenuated inversion recovery, and diffusion-weighted hyperintense brain lesion led to pathologic and genetic testing that identified a A3243G mitochondrial DNA point mutation associated with mitochondrial, encephalomyopathy, lactic acidosis, and strokelike episodes. (nih.gov)
- This case emphasizes that occipital epileptic seizures can be the only presenting and long-lasting sign in patients with mitochondrial, encephalomyopathy, lactic acidosis, and strokelike episodes. (nih.gov)
- The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) has strokelike events that are acute in onset, often transient, and occasionally associated with a febrile illness. (medscape.com)
- The prevalence of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) is 16-18/100,000, with the highest reported diagnostic rate in Western regions and the lowest rate in Asia. (medscape.com)
- 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)
- Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports. (wjgnet.com)
- We profiled the transcriptome, chromatin accessibility state, and heteroplasmy in cells from the eyes of a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and from healthy control donors. (jci.org)
- Mitokondriell myopati, encefalopati, laktacidose og slaglignende episoder (kalt MELAS) har sitt navn fra den engelske beskrivelsen av diagnosen (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) og er en multisystemsykdom som kan ramme flere organer i varierende grad. (frambu.no)
- Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation. (cdc.gov)
- The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. (cdc.gov)
MNGIE1
- CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. (unito.it)
Mutation5
- Mitochondrial DNA is 10 times more prone to mutation than somatic DNA. (medscape.com)
- Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. (unito.it)
- As part of a systematic analysis of pathogenic mutant mitochondrial tRNAs, we purified tRNA(Ile) with a point mutation at nucleotide 4269 to determine its nucleotide sequence, including modified nucleotides. (elsevierpure.com)
- We found that, instead of causing a defect in the post-transcriptional modification, a pathogenic point mutation in the mitochondrial tRNA(Ile) reduced the stability of the mutant tRNA molecule, resulting in a low steady-state level of aminoacyl-tRNA. (elsevierpure.com)
- G mitochondrial point mutation. (cdc.gov)
Mutations in mitochondrial2
- Point mutations in mitochondrial tRNA genes are responsible for individual subgroups of mitochondrial encephalomyopathies. (elsevierpure.com)
- A mutations in mitochondrial encephalomyopathies]. (cdc.gov)
Mitochondria3
- Mitochondria have their own DNA (mitochondrial DNA [mtDNA]), which is maternally derived. (msdmanuals.com)
- Mitochondrial disorders cause mitochondria to stop working properly, so that less and less energy is generated within the cells. (msdmanuals.com)
- Mitochondria contain their own "gene material" (DNA), which is called "mitochondrial DNA" abbreviated as mtDNA. (enmc.org)
MtDNA15
- The subsequent elevated systemic concentrations of deoxynucleosides lead to increased intracellular concentrations of their corresponding triphosphates, and ultimately mitochondrial failure due to progressive accumulation of mitochondrial DNA (mtDNA) defects and mtDNA depletion. (encyclopedia.pub)
- This genetic material is known as mitochondrial DNA or mtDNA. (medlineplus.gov)
- For various tRNA point mutations this threshold has been determined to be above 85% of mutated mtDNA [ In this report we studied the metabolic consequences of deficiencies of enzymes of the mitochondrial respiratory chain in skeletal muscle by applying different techniques: enzyme-activity measurements with improved methods and investigation of saponin-permeabilized muscle fibres with respirometric, fluorimetric and imaging techniques. (geometry.net)
- 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)
- Background Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. (bmj.com)
- 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)
- Variants within the high copy number mitochondrial genome (mtDNA) can disrupt organelle function and lead to severe multisystem disease. (jci.org)
- The wide range of manifestations observed in patients with mitochondrial disease results from varying fractions of abnormal mtDNA molecules in different cells and tissues, a phenomenon termed heteroplasmy. (jci.org)
- Here, we identify nonrandom distribution of a pathogenic mtDNA variant across a complex tissue using single-cell RNA-Seq, mitochondrial single-cell ATAC sequencing, and multimodal single-cell sequencing. (jci.org)
- However, mtDNA shares responsibility with nuclear DNA for mitochondrial function. (msdmanuals.com)
- LHON pedigrees usually show a pattern of maternal inheritance typical of mitochondrial disorders that involve mutations of mtDNA. (msdmanuals.com)
- The meeting was the third ENMC workshop devoted to disorders of mitochondrial DNA (mtDNA) maintenance. (enmc.org)
- An important group of mitochondrial diseases, called "mtDNA maintenance disorders", is caused by changes ("mutations") in genes that encode proteins needed to replicate and maintain mtDNA, which results in mtDNA damage. (enmc.org)
- Because many important proteins and other elements required for the correct mitochondrial function are manufactured based upon blueprints contained in mtDNA, the defective maintenance of this molecule results in mitochondrial dysfunction associated with many clinical problems that severely affect patients. (enmc.org)
- Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations. (cdc.gov)
Myopathy1
- Causes and symptoms Ocular myopathy is also known as mitochondrial encephalomyelopathy with ophthalmoplegia or progressive external ophthalmoplegia. (geometry.net)
Dysfunction5
- This strain is best described as having chronic mitochondrial dysfunction. (ox.ac.uk)
- These labels are incorrect in most cases as affected children have a mitochondrial dysfunction and damaged detoxification kinetics. (sanevax.org)
- Fibroblast growth factor-21 (FGF-21) and growth differentiation factor-15 (GDF-15) are additional biomarkers that may suggest mitochondrial dysfunction. (msdmanuals.com)
- Additionally, there are a number of conditions in which a genetic defect causes secondary mitochondrial dysfunction. (msdmanuals.com)
- Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. (unito.it)
Living with mitochondrial disease2
- 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)
Diseases5
- as in all diseases with mitochondrial transmission, the disease is inherited via the ovum and hence always from the mother. (medscape.com)
- Mitochondrial mutations and variants have also been implicated in a number of diseases of aging (eg, Parkinson disease, Alzheimer disease, diabetes, deafness, cancer). (msdmanuals.com)
- This buildup of lactic acid may help distinguish a mitochondrial disorder from other metabolic diseases. (msdmanuals.com)
- « Mitochondriopathies » register in the observational study « Prospective follow-up of a cohort of adult patients with mitochondrial diseases », Principal investigator Prof P. Laforet. (institut-myologie.org)
- Expanding and validating the biomarkers for mitochondrial diseases. (cdc.gov)
Deletions2
- As people age, mitochondrial DNA accumulates damaging mutations, including deletions and other changes. (medlineplus.gov)
- MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. (unito.it)
Disorders7
- Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. (globalgenes.org)
- 31P-magnetic resonance spectroscopy (31P-MRS) provides new biochemical information on mitochondrial disorders affecting brain and muscle. (ox.ac.uk)
- A British neuroscientist who specializes in mitochondrial disorders said the case report is proof of principle that offers hope for the future. (lww.com)
- Thus, both mitochondrial and nuclear mutations can cause mitochondrial disorders. (msdmanuals.com)
- Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. (unito.it)
- These high-energy organs are particularly susceptible to the problems caused by mitochondrial disorders. (msdmanuals.com)
- The following are examples of mitochondrial disorders. (msdmanuals.com)
Encephalopathy1
- It would be better to call what they have Mitochondrial Neuro-Gastro-Immune Encephalopathy/Encephalomyopathy (MNE). (sanevax.org)
Disorder3
- We assessed the mo(vbr) (mottled viable brindled) mouse for its value in studying (1) energetics of a mitochondrial disorder and (2) 31P-MRS changes associated with mitochondrial abnormalities in vivo. (ox.ac.uk)
- Is Type 2 Diabetes a Primary Mitochondrial Disorder? (mdpi.com)
- The diagnostic workup for a mitochondrial disorder may include testing to demonstrate elevations of the lactate-to-pyruvate ratio and an elevated growth differentiation factor 15 concentration. (mayocliniclabs.com)
Respiratory chain2
- Mammalian mitochondrial respiratory chain (MRC) complexes are able to associate into quaternary structures named supercomplexes (SCs), which normally coexist with non-bound individual complexes. (elifesciences.org)
- Mitochondrial respiratory chain organization does not seem to be conserved in all organisms. (elifesciences.org)
Clinical2
- Some mitochondrial mutations may give rise to "overlap" syndromes, which present with clinical features of more than one disease entity. (medscape.com)
- Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for nuclear mitochondrial disease. (mayocliniclabs.com)
MELAS1
- I Finland er det funnet en forekomst av MELAS på 1 pr 3 500. (frambu.no)
Gene3
- Mutations in the AIF gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. (thermofisher.com)
- G Variation in the Mitochondrial tRNA Gene. (cdc.gov)
- See Targeted Genes and Methodology Details for Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies in Method Description for additional details. (mayocliniclabs.com)
Inner mitochon2
- This reaction is catalysed by PDC, a series of linked enzymes located in the inner mitochondrial membrane (fig 2 ). (bmj.com)
- The molecular machinery responsible for energy transformation is the oxidative phosphorylation (OXPHOS) system, which is canonically composed of five multiprotein complexes embedded in the inner mitochondrial membrane. (elifesciences.org)
Humans2
- In humans, mitochondrial DNA spans about 16,500 DNA building blocks (base pairs), representing a small fraction of the total DNA in cells. (medlineplus.gov)
- In this review some details about statins including their adverse effects in humans and animals, the effects of simvastatin on various intracellular and mitochondrial processes, and molecular mechanisms underlying simvastatin cytotoxicity are discussed. (degruyter.com)
Deficiencies1
- 5 This concept is most readily appreciated by considering mitochondrial enzyme deficiencies. (bmj.com)
Defects1
- Other less well-defined defects in mitochondrial function exist. (msdmanuals.com)
Molecular2
- Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (unito.it)
- The sector of mitochondrial illnesses is presently one of many swiftly transforming into fields of analysis in mobilephone and molecular biology. (pyfprod.ro)
Advances1
- Mitochondrial encephalomyopathies: advances in understanding. (medscirev.com)
Abnormalities2
Genes associated1
- The mitochondrial genes associated with cytochrome c oxidase deficiency provide instructions for making proteins that are part of a large enzyme group (complex) called cytochrome c oxidase (also known as complex IV). (medlineplus.gov)
Impair1
- MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. (uni-koeln.de)
Deficiency1
- Mutations in at least three mitochondrial genes can cause cytochrome c oxidase deficiency, which is a condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. (medlineplus.gov)
Inheritance2
- A genetic hearing loss may be inherited in an autosomal dominant, autosomal recessive, or X-linked Mendelian manner, or through the maternal lineage by mitochondrial inheritance. (nature.com)
- This disease displays mitochondrial inheritance. (rahulgladwin.com)
Nuclear-encoded1
- Endonuclease G (ENDOG) is a nuclear-encoded mitochondrial-localized nuclease. (mdpi.com)
Pathogenic1
- These mutations are generally accepted by the mitochondrial research community as being pathogenic. (mitomap.org)
Patients3
- We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. (globalgenes.org)
- Cardiomyopathy due to mitochondrial disease may produce typical cardioembolic strokes in some patients. (medscape.com)
- Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies. (cdc.gov)
Abnormality1
- 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)
Ultimately1
- As a result, reactive oxygen species easily damage mitochondrial DNA, causing cells to malfunction and ultimately to die. (medlineplus.gov)
Medicine1
- Historical perspective on mitochondrial medicine. (unito.it)
Proton1
- During electron transport, complexes I, III, and IV pump protons from the mitochondrial matrix to the intermembrane space, generating a proton gradient that provides the protonmotive force exploited by complex V to synthesize ATP. (elifesciences.org)
Function1
- Mitochondrial DNA contains 37 genes, all of which are essential for normal mitochondrial function. (medlineplus.gov)
