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Search on : mitochondrial and encephalomyopathies [Words]
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  1 / 1222 MEDLINE  
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[PMID]: 29314548
[Au] Autor:Bruni F; Di Meo I; Bellacchio E; Webb BD; McFarland R; Chrzanowska-Lightowlers ZMA; He L; Skorupa E; Moroni I; Ardissone A; Walczak A; Tyynismaa H; Isohanni P; Mandel H; Prokisch H; Haack T; Bonnen PE; Enrico B; Pronicka E; Ghezzi D; Taylor RW; Diodato D
[Ad] Address:Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.
[Ti] Title:Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
[So] Source:Hum Mutat;39(4):563-578, 2018 Apr.
[Is] ISSN:1098-1004
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2, encoding the mitochondrial valyl tRNA-synthetase, were first reported in a patient with psychomotor delay and epilepsia partialis continua associated with an oxidative phosphorylation (OXPHOS) Complex I defect, before being described in a patient with a neonatal form of encephalocardiomyopathy. Here we provide a detailed genetic, clinical, and biochemical description of 13 patients, from nine unrelated families, harboring VARS2 mutations. All patients except one, who manifested with a less severe disease course, presented at birth exhibiting severe encephalomyopathy and cardiomyopathy. Features included hypotonia, psychomotor delay, seizures, feeding difficulty, abnormal cranial MRI, and elevated lactate. The biochemical phenotype comprised a combined Complex I and Complex IV OXPHOS defect in muscle, with patient fibroblasts displaying normal OXPHOS activity. Homology modeling supported the pathogenicity of VARS2 missense variants. The detailed description of this cohort further delineates our understanding of the clinical presentation associated with pathogenic VARS2 variants and we recommend that this gene should be considered in early-onset mitochondrial encephalomyopathies or encephalocardiomyopathies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1002/humu.23398

  2 / 1222 MEDLINE  
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[PMID]: 29429571
[Au] Autor:Piekutowska-Abramczuk D; Assouline Z; Matakovic L; Feichtinger RG; Konariková E; Jurkiewicz E; Stawinski P; Gusic M; Koller A; Pollak A; Gasperowicz P; Trubicka J; Ciara E; Iwanicka-Pronicka K; Rokicki D; Hanein S; Wortmann SB; Sperl W; Rötig A; Prokisch H; Pronicka E; Ploski R; Barcia G; Mayr JA
[Ad] Address:Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
[Ti] Title:NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
[So] Source:Am J Hum Genet;102(3):460-467, 2018 Mar 01.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing variants in genes coding for 27 complex I subunits, including 7 mitochondrial DNA genes, and in 11 genes encoding complex I assembly factors have been reported. Here, we describe rare biallelic variants in NDUFB8 encoding a complex I accessory subunit revealed by whole-exome sequencing in two individuals from two families. Both presented with a progressive course of disease with encephalo(cardio)myopathic features including muscular hypotonia, cardiac hypertrophy, respiratory failure, failure to thrive, and developmental delay. Blood lactate was elevated. Neuroimaging disclosed progressive changes in the basal ganglia and either brain stem or internal capsule. Biochemical analyses showed an isolated decrease in complex I enzymatic activity in muscle and fibroblasts. Complementation studies by expression of wild-type NDUFB8 in cells from affected individuals restored mitochondrial function, confirming NDUFB8 variants as the cause of complex I deficiency. Hereby we establish NDUFB8 as a relevant gene in childhood-onset mitochondrial disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review

  3 / 1222 MEDLINE  
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[PMID]: 29428506
[Au] Autor:Ganetzky RD; Falk MJ
[Ad] Address:Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
[Ti] Title:8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.
[So] Source:Mol Genet Metab;123(3):301-308, 2018 Mar.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Intravenous (IV) arginine has been reported to ameliorate acute metabolic stroke symptoms in adult patients with Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) syndrome, where its therapeutic benefit is postulated to result from arginine acting as a nitric oxide donor to reverse vasospasm. Further, reduced plasma arginine may occur in mitochondrial disease since the biosynthesis of arginine's precursor, citrulline, requires ATP. Metabolic strokes occur across a wide array of primary mitochondrial diseases having diverse molecular etiologies that are likely to share similar pathophysiologic mechanisms. Therefore, IV arginine has been increasingly used for the acute clinical treatment of metabolic stroke across a broad mitochondrial disease population. METHODS: We performed retrospective analysis of a large cohort of subjects who were under 18 years of age at IRB #08-6177 study enrollment and had molecularly-confirmed primary mitochondrial disease (n = 71, excluding the common MELAS m.3243A>G mutation). 9 unrelated subjects in this cohort received acute arginine IV treatment for one or more stroke-like episodes (n = 17 total episodes) between 2009 and 2016 at the Children's Hospital of Philadelphia. Retrospectively reviewed data included subject genotype, clinical symptoms, age, arginine dosing, neuroimaging (if performed), prophylactic therapies, and adverse events. RESULTS: Genetic etiologies of subjects who presented with acute metabolic strokes included 4 mitochondrial DNA (mtDNA) pathogenic point mutations, 1 mtDNA deletion, and 4 nuclear gene disorders. Subject age ranged from 19 months to 23 years at the time of any metabolic stroke episode (median, 8 years). 3 subjects had recurrent stroke episodes. 70% of subjects were on prophylactic arginine or citrulline therapy at the time of a stroke-like episode. IV arginine was initiated on initial presentation in 65% of cases. IV arginine was given for 1-7 days (median, 1 day). A positive clinical response to IV arginine occurred in 47% of stroke-like episodes; an additional 6% of episodes showed clinical benefit from multiple simultaneous treatments that included arginine, confounding sole interpretation of arginine effect. All IV arginine-responsive stroke-like episodes (n = 8) received treatment immediately on presentation (p = .003). Interestingly, the presence of unilateral symptoms strongly predicted arginine response (p = .02, Chi-Square); however, almost all of these cases immediately received IV arginine, confounding interpretation of causality direction. Suggestive trends toward increased IV arginine response were seen in subjects with mtDNA relative to nDNA mutations and in older pediatric subjects, although statistical significance was not reached possibly due to small sample size. No adverse events, including hypotensive episodes, from IV arginine therapy were reported. CONCLUSIONS: Single-center retrospective analysis suggests that IV arginine therapy yields significant therapeutic benefit with little risk in pediatric mitochondrial disease stroke subjects across a wide range of genetic etiologies beyond classical MELAS. Acute hemiplegic stroke, in particular, was highly responsive to IV arginine treatment. Prospective studies with consistent arginine dosing, and pre- and post-neuroimaging, will further inform the clinical utility of IV arginine therapy for acute metabolic stroke in pediatric mitochondrial disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review

  4 / 1222 MEDLINE  
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[PMID]: 29217198
[Au] Autor:Maalej M; Tej A; Bouguila J; Tilouche S; Majdoub S; Khabou B; Tabbebi M; Felhi R; Ammar M; Mkaouar-Rebai E; Keskes L; Boughamoura L; Fakhfakh F
[Ad] Address:Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, University of Sfax, Tunisia; Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, University of Sfax, Tunisia. Electronic address: marwamaalej7@gmail.com.
[Ti] Title:Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
[So] Source:Biochem Biophys Res Commun;495(2):1730-1737, 2018 01 08.
[Is] ISSN:1090-2104
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (ß subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c.41T > C in the exon 1 at homozygous state. In-silico analysis revealed that this mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. Moreover, these analysis predicted that this mutation alter stability structure and mitochondrial translocation of the protein. In Addition, a decrease in mtDNA copy number was revealed by real time PCR in the peripheral blood leukocytes in the two patients compared with controls.
[Mh] MeSH terms primary: Mitochondrial Encephalomyopathies/enzymology
Mitochondrial Encephalomyopathies/genetics
Mutation, Missense
Succinate-CoA Ligases/deficiency
Succinate-CoA Ligases/genetics
[Mh] MeSH terms secundary: Acidosis, Lactic/genetics
Amino Acid Metabolism, Inborn Errors/genetics
Amino Acid Substitution
Child, Preschool
Consanguinity
DNA, Mitochondrial/genetics
Enzyme Stability/genetics
Female
Gene Dosage
Hearing Loss/genetics
Homozygote
Humans
Infant
Male
Muscle Hypotonia/genetics
Succinate-CoA Ligases/chemistry
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (DNA, Mitochondrial); EC 6.2.1.- (SUCLG1 protein, human); EC 6.2.1.- (Succinate-CoA Ligases)
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[Js] Journal subset:IM
[Da] Date of entry for processing:171209
[St] Status:MEDLINE

  5 / 1222 MEDLINE  
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[PMID]: 28743699
[Au] Autor:Rimmer A
[Ad] Address:The BMJ.
[Ti] Title:Charlie Gard's parents end legal fight to keep son alive.
[So] Source:BMJ;358:j3589, 2017 07 25.
[Is] ISSN:1756-1833
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Mitochondrial Encephalomyopathies/therapy
Parents
Withholding Treatment/legislation & jurisprudence
[Mh] MeSH terms secundary: England
Female
Humans
Infant
Male
[Pt] Publication type:NEWS
[Em] Entry month:1711
[Cu] Class update date: 171128
[Lr] Last revision date:171128
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170727
[St] Status:MEDLINE
[do] DOI:10.1136/bmj.j3589

  6 / 1222 MEDLINE  
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[PMID]: 28977448
[Au] Autor:Carelli V; La Morgia C; Ross-Cisneros FN; Sadun AA
[Ad] Address:IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
[Ti] Title:Optic neuropathies: the tip of the neurodegeneration iceberg.
[So] Source:Hum Mol Genet;26(R2):R139-R150, 2017 Oct 01.
[Is] ISSN:1460-2083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The optic nerve and the cells that give origin to its 1.2 million axons, the retinal ganglion cells (RGCs), are particularly vulnerable to neurodegeneration related to mitochondrial dysfunction. Optic neuropathies may range from non-syndromic genetic entities, to rare syndromic multisystem diseases with optic atrophy such as mitochondrial encephalomyopathies, to age-related neurodegenerative diseases such as Alzheimer's and Parkinson's disease where optic nerve involvement has, until recently, been a relatively overlooked feature. New tools are available to thoroughly investigate optic nerve function, allowing unparalleled access to this part of the central nervous system. Understanding the molecular pathophysiology of RGC neurodegeneration and optic atrophy, is key to broadly understanding the pathogenesis of neurodegenerative disorders, for monitoring their progression in describing the natural history, and ultimately as outcome measures to evaluate therapies. In this review, the different layers, from molecular to anatomical, that may contribute to RGC neurodegeneration and optic atrophy are tackled in an integrated way, considering all relevant players. These include RGC dendrites, cell bodies and axons, the unmyelinated retinal nerve fiber layer and the myelinated post-laminar axons, as well as olygodendrocytes and astrocytes, looked for unconventional functions. Dysfunctional mitochondrial dynamics, transport, homeostatic control of mitobiogenesis and mitophagic removal, as well as specific propensity to apoptosis may target differently cell types and anatomical settings. Ultimately, we can envisage new investigative approaches and therapeutic options that will speed the early diagnosis of neurodegenerative diseases and their cure.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171004
[Lr] Last revision date:171004
[St] Status:In-Process
[do] DOI:10.1093/hmg/ddx273

  7 / 1222 MEDLINE  
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[PMID]: 28762753
[Au] Autor:Vollono C; Primiano G; Della Marca G; Losurdo A; Servidei S
[Ad] Address:1 Unità di Neurofisiopatologia, Area Neuroscienze, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.
[Ti] Title:Migraine in mitochondrial disorders: Prevalence and characteristics.
[So] Source:Cephalalgia;:333102417723568, 2017 Jan 01.
[Is] ISSN:1468-2982
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Background Migraine is a well-known feature of mitochondrial disorders (MDs). However, no systematic epidemiological data are available in large populations of patients. Aims The aim of this cross-sectional cohort study was to describe the prevalence and migraine characteristics in a large cohort of patients with mitochondrial encephalomyopathies. Methods We studied 93 consecutive patients with characterised MDs referred to our Neuromuscular Unit during a 12-month period. All patients (age range = 16-78 years; 31 men; 58 progressive external ophthalmoplegia [PEO], 12 myoclonic epilepsy with ragged red fibres [MERRF], eight mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes [MELAS], two mitochondrial neurogastrointestinal encephalomyopathy [MNGIE] and 13 other MDs) underwent a structured diagnostic headache interview using an operational diagnostic tool following the IHS criteria. If they met the criteria for migraine, they were included in the 'Migraine Group'. The other patients were counted in the 'No Migraine Group'. Patient demographic and migraine characteristics were examined. Clinical, neuroradiological and neurophysiological data were compared between groups. Results Migraine was reported in 35.5% of patients. Migraine without aura was the most common headache (81.8%). The migraine group showed younger age ( P < 0.01), increased prevalence of epilepsy ( P = 0.01), myoclonus ( P = 0.03), stroke-like episodes ( P = 0.03) and decreased prevalence of muscle weakness ( P < 0.01). Multivariate analysis showed that migraine was positively associated with absence of muscle weakness ( P = 0.04) and presence of EEG abnormalities ( P = 0.02). Conclusion Migraine has a higher prevalence in MDs compared with general population-based data, independently from genotype or phenotype. Migraine is not merely a phenotypic aspect of specific MDs but is rather the expression of vulnerability of the central nervous system, probably directly related with defects of the respiratory chain.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 171118
[Lr] Last revision date:171118
[St] Status:Publisher
[do] DOI:10.1177/0333102417723568

  8 / 1222 MEDLINE  
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[PMID]: 28727879
[Au] Autor:Truog RD
[Ad] Address:Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts.
[Ti] Title:The United Kingdom Sets Limits on Experimental Treatments: The Case of Charlie Gard.
[So] Source:JAMA;318(11):1001-1002, 2017 Sep 19.
[Is] ISSN:1538-3598
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Health Care Rationing/ethics
Mitochondrial Encephalomyopathies/therapy
Patient Transfer/legislation & jurisprudence
State Medicine/legislation & jurisprudence
Therapies, Investigational/economics
[Mh] MeSH terms secundary: Evidence-Based Medicine
Health Care Rationing/economics
Health Care Rationing/legislation & jurisprudence
Humans
Infant
Male
Mitochondrial Encephalomyopathies/economics
Palliative Care
Patient Transfer/economics
State Medicine/economics
State Medicine/ethics
United Kingdom
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171002
[Lr] Last revision date:171002
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170721
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.10410

  9 / 1222 MEDLINE  
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[PMID]: 28412374
[Au] Autor:Jackson CB; Hahn D; Schröter B; Richter U; Battersby BJ; Schmitt-Mechelke T; Marttinen P; Nuoffer JM; Schaller A
[Ad] Address:Institute of Clinical Chemistry, University Hospital Bern, Switzerland; Research Programs for Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Finland. Electronic address: christopher.jackson@helsinki.fi.
[Ti] Title:A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
[So] Source:Eur J Med Genet;60(6):345-351, 2017 Jun.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in the patient's skeletal muscle and blood. The mutation was not detectable in the mother's DNA extracted from blood or buccal cells. Enzymatic and oxymetric analysis of the mitochondrial respiratory system in the patients' skeletal muscle and skin fibroblasts demonstrated an isolated complex V deficiency. Native PAGE with subsequent immunoblotting for complex V revealed impaired complex V assembly and accumulation of ATPase subcomplexes. Whilst northern blotting confirmed equal presence of ATP8/6 mRNA, metabolic S-labelling of mitochondrial translation products showed a severe depletion of the ATP6 protein together with aberrant translation product accumulation. In conclusion, this novel isolated complex V defect expands the clinical and genetic spectrum of mitochondrial defects of complex V deficiency. Furthermore, this work confirms the benefit of native PAGE as an additional diagnostic method for the identification of OXPHOS defects, as the presence of complex V subcomplexes is associated with pathogenic mutations of mtDNA.
[Mh] MeSH terms primary: Ataxia/genetics
Frameshift Mutation
Mitochondrial Encephalomyopathies/genetics
Mitochondrial Proton-Translocating ATPases/genetics
[Mh] MeSH terms secundary: Ataxia/diagnosis
Cells, Cultured
Child
Female
Fibroblasts/metabolism
Humans
Mitochondrial Encephalomyopathies/diagnosis
Mitochondrial Proton-Translocating ATPases/deficiency
Muscle, Skeletal/metabolism
Syndrome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 3.6.3.- (Mitochondrial Proton-Translocating ATPases); EC 3.6.3.14 (MT-ATP6 protein, human)
[Em] Entry month:1708
[Cu] Class update date: 170807
[Lr] Last revision date:170807
[Js] Journal subset:IM
[Da] Date of entry for processing:170417
[St] Status:MEDLINE

  10 / 1222 MEDLINE  
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[PMID]: 28295037
[Au] Autor:Nazli A; Safdar A; Saleem A; Akhtar M; Brady LI; Schwartzentruber J; Tarnopolsky MA
[Ad] Address:Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
[Ti] Title:A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.
[So] Source:Eur J Hum Genet;25(6):744-751, 2017 Jun.
[Is] ISSN:1476-5438
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Recent research has suggested that transmembrane protein 65 (TMEM65) is localized within the inner mitochondrial membrane. Little else is known about its function. In this study we investigated the location and function of TMEM65. Further, we report the functional consequences of a novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene in a patient with mitochondrial encephalomyopathy. Here we investigated the location of TMEM65 by immunofluorescence staining of the protein and by immunoblotting of the isolated mitochondrial fractions in healthy fibroblasts and those from the patient. To study the function of TMEM65 we knocked down mRNA using TMEM65-specific siRNA, and measured mitochondrial function by enzymology, protein abundance and oxygen consumption rate in fibroblasts. Subcellular fractionation confirmed that the TMEM65 protein was present in the inner mitochondrial membrane. Knocking down TMEM65 expression in dermal fibroblasts severely affected mitochondrial content and respiration rate. Further evidence for the essential role of TMEM65 in mitochondrial function came from the demonstration of severe cellular and clinical consequences resulting from the novel TMEM65 gene mutation. In conclusion, these findings suggest that TMEM65, an inner mitochondrial membrane protein, plays a significant role in mitochondrial respiratory chain function. We also provide the first evidence that a mutation in the TMEM65 gene results in mitochondrial dysfunction and a severe mitochondrial encephalomyopathy phenotype.
[Mh] MeSH terms primary: Membrane Proteins/genetics
Mitochondrial Encephalomyopathies/genetics
Mitochondrial Proteins/genetics
Mutation
[Mh] MeSH terms secundary: Cell Respiration
Cells, Cultured
Child, Preschool
Female
Fibroblasts/metabolism
Humans
Membrane Proteins/metabolism
Mitochondrial Encephalomyopathies/pathology
Mitochondrial Membranes/metabolism
Mitochondrial Proteins/metabolism
Oxygen/metabolism
RNA Splicing
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Membrane Proteins); 0 (Mitochondrial Proteins); 0 (TMEM65 protein, human); S88TT14065 (Oxygen)
[Em] Entry month:1709
[Cu] Class update date: 170912
[Lr] Last revision date:170912
[Js] Journal subset:IM
[Da] Date of entry for processing:170316
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2017.20


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