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 - 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 ...
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