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[PMID]:29054413
[Au] Autor:Mordel P; Schaeffer S; Dupas Q; Laville MA; Gérard M; Chapon F; Allouche S
[Ad] Endereço:Normandie Univ, UNICAEN, CHU Caen, Signalisation, électrophysiologie et imagerie des lésions d'ischémie-reperfusion myocardique, Caen, F-14032, France.
[Ti] Título:A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
[So] Source:Biochem Biophys Res Commun;494(1-2):133-137, 2017 Dec 09.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. We report the case of a 18-year-old man who presented with deafness, a myoclonic epilepsy, muscle weakness since the age of 10 and further developed a retinitis pigmentosa and ataxia. The whole mtDNA analysis by next-generation sequencing revealed the presence of the 2 bp microdeletion m.9127-9128 del AT in the ATP6 gene at 82% heteroplasmy in muscle and to a lower load in blood (10-20%) and fibroblasts (50%). Using the patient's fibroblasts, we demonstrated a 60% reduction of the oligomycin-sensitive ATPase hydrolytic activity, a 40% decrease in the ATP synthesis and determination of the mitochondrial membrane potential using the fluorescent probe tetramethylrhodamine, ethyl ester indicated a significant reduction in oligomycin sensitivity. In conclusion, we demonstrated that this novel AT deletion in the ATP6 gene is pathogenic and responsible for the NARP syndrome.
[Mh] Termos MeSH primário: Miopatias Mitocondriais/enzimologia
Miopatias Mitocondriais/genética
ATPases Mitocondriais Próton-Translocadoras/genética
Retinite Pigmentosa/enzimologia
Retinite Pigmentosa/genética
Deleção de Sequência
[Mh] Termos MeSH secundário: Adenosina Trifosfatases/genética
Adenosina Trifosfatases/metabolismo
Trifosfato de Adenosina/metabolismo
Sequência de Bases
Proteínas de Transporte/genética
Proteínas de Transporte/metabolismo
Células Cultivadas
Análise Mutacional de DNA
DNA Mitocondrial/genética
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Potencial da Membrana Mitocondrial/efeitos dos fármacos
Proteínas de Membrana/genética
Proteínas de Membrana/metabolismo
ATPases Mitocondriais Próton-Translocadoras/metabolismo
Oligomicinas/farmacologia
Síndrome
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (DNA, Mitochondrial); 0 (Membrane Proteins); 0 (Oligomycins); 8L70Q75FXE (Adenosine Triphosphate); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.- (Mitochondrial Proton-Translocating ATPases); EC 3.6.3.14 (MT-ATP6 protein, human); EC 3.6.3.14 (oligomycin sensitivity-conferring protein)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171022
[St] Status:MEDLINE


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[PMID]:28947214
[Au] Autor:Dallabona C; Baruffini E; Goffrini P; Lodi T
[Ad] Endereço:Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, 43124 Parma, Italy.
[Ti] Título:Dominance of yeast aac2 and aac2 mutations, equivalent to pathological mutations in ant1, is due to gain of function.
[So] Source:Biochem Biophys Res Commun;493(2):909-913, 2017 Nov 18.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The mitochondrial ADP/ATP carrier is a nuclear encoded protein, which catalyzes the exchange of ATP generated in mitochondria with ADP produced in the cytosol. In humans, mutations in the major ADP/ATP carrier gene, ANT1, are involved in several degenerative mitochondrial pathologies, leading to instability of mitochondrial DNA. Recessive mutations have been associated with mitochondrial myopathy and cardiomyopathy whereas dominant mutations have been associated with autosomal dominant Progressive External Ophtalmoplegia (adPEO). Recently, two de novo dominant mutations, R80H and R235G, leading to extremely severe symptoms, have been identified. In order to evaluate if the dominance is due to haploinsufficiency or to a gain of function, the two mutations have been introduced in the equivalent positions of the AAC2 gene, the yeast orthologue of human ANT1, and their dominant effect has been studied in heteroallelic strains, containing both one copy of wild type AAC2 and one copy of mutant aac2 allele. Through phenotypic characterization of these yeast models we showed that the OXPHOS phenotypes in the heteroallelic strains were more affected than in the hemiallelic strain indicating that the dominant trait of the two mutations is due to gain of function.
[Mh] Termos MeSH primário: Translocador 1 do Nucleotídeo Adenina/genética
DNA Mitocondrial/genética
Translocases Mitocondriais de ADP e ATP/genética
Miopatias Mitocondriais/genética
Mutação Puntual
Proteínas de Saccharomyces cerevisiae/genética
Saccharomyces cerevisiae/genética
[Mh] Termos MeSH secundário: Alelos
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adenine Nucleotide Translocator 1); 0 (DNA, Mitochondrial); 0 (PET9 protein, S cerevisiae); 0 (SLC25A4 protein, human); 0 (Saccharomyces cerevisiae Proteins); 9068-80-8 (Mitochondrial ADP, ATP Translocases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170927
[St] Status:MEDLINE


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[PMID]:28791828
[Au] Autor:Mozrzymas R; Konikowska K; Regulska-Ilow B
[Ad] Endereço:Regional Specialist Hospital in Wroclaw, Research and Development Center, Poland.
[Ti] Título:Energy exchangers with LCT as a precision method for diet control in LCHADD.
[So] Source:Adv Clin Exp Med;26(3):515-525, 2017 May-Jun.
[Is] ISSN:1899-5276
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare genetic disease. The LCHADD treatment is mainly based on special diet. In this diet, energy from long-chain triglycerides (LCT) cannot exceed 10%, however energy intake from the consumption of medium-chain triglycerides (MCTs) should increase. The daily intake of energy should be compatible with energy requirements and treatment should involve frequent meals including during the night to avoid periods of fasting. In fact, there are no recommendations for total content of LCT in all of the allowed food in the LCHADD diet. The aim of the study was to present a new method of diet composition in LCHADD with the use of blocks based on energy exchangers with calculated LCT content. In the study, the diet schema was shown for calculating the energy requirements and LCT content in the LCHADD diet. How to create the diet was also shown, based on a food pyramid developed for patients with LCHADD. The blocks will make it possible, in a quick and simple way, to create a balanced diet which provides adequate energy value, essential nutrients and LCT content. This method can be used by doctors and dietitians who specialize in treating rare metabolic diseases. It can also be used by patients and their families for accurate menu planning with limited LCT content.
[Mh] Termos MeSH primário: 3-Hidroxiacil-CoA Desidrogenases/deficiência
Cardiomiopatias/dietoterapia
Ingestão de Energia/fisiologia
Erros Inatos do Metabolismo Lipídico/dietoterapia
Miopatias Mitocondriais/dietoterapia
Proteína Mitocondrial Trifuncional/deficiência
Doenças do Sistema Nervoso/dietoterapia
Rabdomiólise/dietoterapia
Triglicerídeos/metabolismo
[Mh] Termos MeSH secundário: Adulto
Idoso
Cardiomiopatias/metabolismo
Criança
Pré-Escolar
Dieta/métodos
Feminino
Seres Humanos
Lactente
Recém-Nascido
Erros Inatos do Metabolismo Lipídico/metabolismo
Masculino
Meia-Idade
Miopatias Mitocondriais/metabolismo
Proteína Mitocondrial Trifuncional/metabolismo
Doenças do Sistema Nervoso/metabolismo
Rabdomiólise/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Triglycerides); EC 1.1.1.- (3-Hydroxyacyl CoA Dehydrogenases); EC 2.3.1.16 (Mitochondrial Trifunctional Protein)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170810
[St] Status:MEDLINE
[do] DOI:10.17219/acem/62132


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[PMID]:28701185
[Au] Autor:Zheng Q; Wei P; Zhou J; Zhou H; Ji F; Tang W; Li J
[Ad] Endereço:Department of Anesthesiology, Qilu Hospital of Shandong University (Qingdao), No.758 Hefei Road, Qingdao, 266035, People's Republic of China.
[Ti] Título:Case report: perioperative management of caesarean section for a parturient with mitochondrial myopathy.
[So] Source:BMC Anesthesiol;17(1):94, 2017 Jul 12.
[Is] ISSN:1471-2253
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mitochondrial myopathies represent a group of disorders caused by mitochondrial defects that disrupt energy production. Most patients have issues from infancy to early childhood. Pregnancy in women with mitochondrial myopathy is uncommon and the management for these parturients is full of challenges. CASE PRESENTATION: A 36-year-old woman with mitochondrial myopathy was scheduled for caesarean section under a combined spinal-epidural anaesthesia and multi-model analgesia. The parturient was safe and the delivery was performed safely and smoothly, but there were some complications after surgery due to the complex condition of the patient. After consultation with and treatment from multiple disciplines, both the parturient and neonate were well and discharged. CONCLUSION: It is important that patients with mitochondrial diseases are comprehensively assessed and monitored perioperatively.
[Mh] Termos MeSH primário: Anestesia Epidural
Anestesia Obstétrica
Raquianestesia
Cesárea
Miopatias Mitocondriais/complicações
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Gravidez
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170714
[St] Status:MEDLINE
[do] DOI:10.1186/s12871-017-0385-4


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[PMID]:28645928
[Au] Autor:Dadson K; Hauck L; Billia F
[Ad] Endereço:Toronto General Research Institute, Toronto, Ontario Canada, 100 College St., M5G 1L7.
[Ti] Título:Molecular mechanisms in cardiomyopathy.
[So] Source:Clin Sci (Lond);131(13):1375-1392, 2017 Jul 01.
[Is] ISSN:1470-8736
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Cardiomyopathies represent a heterogeneous group of diseases that negatively affect heart function. Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. Modern genomics has identified mutations that are common in these populations, while and experimentation with these mutations have provided invaluable insight into the molecular mechanisms native to these diseases. For example, increased myosin heavy chain (MHC) binding and ATP utilization lead to the hypercontractile sarcomere in HCM, while abnormal protein-protein interaction and impaired Ca flux underlie the relaxed sarcomere of DCM. Furthermore, expanded access to genetic testing has facilitated identification of potential risk factors that appear through inheritance and manifest sometimes only in the advanced stages of the disease. In this review, we discuss the genetic and molecular abnormalities unique to and shared between these primary cardiomyopathies and discuss some of the important advances made using more traditional basic science experimentation.
[Mh] Termos MeSH primário: Cardiomiopatias/genética
Mutação
[Mh] Termos MeSH secundário: Cardiomiopatias/fisiopatologia
Cardiomiopatia Dilatada/genética
Cardiomiopatia Dilatada/fisiopatologia
Cardiomiopatia Hipertrófica/genética
Cardiomiopatia Hipertrófica/fisiopatologia
Cardiomiopatia Restritiva/genética
Cardiomiopatia Restritiva/fisiopatologia
Predisposição Genética para Doença
Seres Humanos
Miopatias Mitocondriais/genética
Miopatias Mitocondriais/fisiopatologia
Neurotransmissores/fisiologia
Sarcômeros/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Neurotransmitter Agents)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170625
[St] Status:MEDLINE
[do] DOI:10.1042/CS20160170


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[PMID]:28395030
[Au] Autor:Sommerville EW; Ng YS; Alston CL; Dallabona C; Gilberti M; He L; Knowles C; Chin SL; Schaefer AM; Falkous G; Murdoch D; Longman C; de Visser M; Bindoff LA; Rawles JM; Dean JCS; Petty RK; Farrugia ME; Haack TB; Prokisch H; McFarland R; Turnbull DM; Donnini C; Taylor RW; Gorman GS
[Ad] Endereço:Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
[Ti] Título:Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
[So] Source:JAMA Neurol;74(6):686-694, 2017 Jun 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish founder variant. Design, Setting, and Participants: An observational case series study was conducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, and review of cases published in the literature. Six adults in a well-defined mitochondrial disease cohort and 11 additional cases described in the literature were identified with YARS2 variants between January 1, 2000, and January 31, 2015. Main Outcome and Measures: The spectrum of clinical features and disease progression in unreported and reported patients with pathogenic YARS2 variants. Results: Seventeen patients (median [interquartile range] age at onset, 1.5 [9.8] years) with YARS2-related mitochondrial myopathy were identified. Fifteen individuals (88%) exhibited an elevated blood lactate level accompanied by generalized myopathy; only 12 patients (71%) manifested with sideroblastic anemia. Hypertrophic cardiomyopathy (9 [53%]) and respiratory insufficiency (8 [47%]) were also prominent clinical features. Central nervous system involvement was rare. Muscle studies showed global cytochrome-c oxidase deficiency in all patients tested and severe, combined respiratory chain complex activity deficiencies. Microsatellite genotyping demonstrated a common founder effect shared between 3 Scottish patients with a p.Leu392Ser variant. Immunoblotting from fibroblasts and myoblasts of an affected Scottish patient showed normal YARS2 protein levels and mild respiratory chain complex defects. Yeast modeling of novel missense YARS2 variants closely correlated with the severity of clinical phenotypes. Conclusions and Relevance: The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation. Testing for pathogenic YARS2 variants should be considered in patients presenting with mitochondrial myopathy, characterized by exercise intolerance and muscle weakness even in the absence of sideroblastic anemia irrespective of ethnicity. Regular surveillance and early treatment for cardiomyopathy and respiratory muscle weakness is advocated because early treatment may mitigate the significant morbidity and mortality associated with this genetic disorder.
[Mh] Termos MeSH primário: Acidose Láctica/genética
Anemia Sideroblástica/genética
Cardiomiopatias/genética
Miopatias Mitocondriais/genética
Debilidade Muscular/genética
Insuficiência Respiratória/genética
Tirosina-tRNA Ligase/genética
[Mh] Termos MeSH secundário: Acidose Láctica/etnologia
Acidose Láctica/etiologia
Adulto
Idoso
Anemia Sideroblástica/etnologia
Anemia Sideroblástica/etiologia
Cardiomiopatias/etnologia
Cardiomiopatias/etiologia
Inglaterra/etnologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Miopatias Mitocondriais/complicações
Miopatias Mitocondriais/etnologia
Debilidade Muscular/etnologia
Debilidade Muscular/etiologia
Mutação
Prognóstico
Insuficiência Respiratória/etnologia
Insuficiência Respiratória/etiologia
Escócia/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
EC 6.1.1.1 (Tyrosine-tRNA Ligase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2016.4357


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[PMID]:28202819
[Au] Autor:Murakami H; Ono K
[Ad] Endereço:Department of Neurology, Showa University School of Medicine.
[Ti] Título:[MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes].
[So] Source:Brain Nerve;69(2):111-117, 2017 Feb.
[Is] ISSN:1881-6096
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Mitochondrial disease is caused by a deficiency in the energy supply to cells due to mitochondrial dysfunction. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease that presents with stroke-like episodes such as acute onset of neurological deficits and characteristic imaging findings. Stroke-like episodes in MELAS have the following features: 1) neurological deficits due to localization of lesions in the brain, 2) episodes often accompany epilepsy, 3) lesions do not follow the vascular supply area, 4) lesions are more often seen in the posterior brain than in the anterior brain, 5) lesions spread to an adjacent area in the brain, and 6) neurological symptoms often disappear together with imaging findings, but later relapse. About 80% of patients with MELAS have an A-to-G transition mutation at the nucleotide pair 3243 in the dihydrouridine loop of mitochondrial tRNALeu(UUR), which causes the absence of posttranscriptional taurine modification at the wobble nucleotide of mitochondrial tRNALeu(UUR) and disrupts protein synthesis. However, the precise pathophysiology of stroke-like episodes is under investigation, with possible hypotheses for these episodes including mitochondrial angiopathy, mitochondrial cytopathy, and neuron-astrocyte uncoupling. With regard to treatment, L-arginine and taurine have recently been suggested for relief of clinical symptoms.
[Mh] Termos MeSH primário: Acidose Láctica/diagnóstico
Encéfalo/patologia
Síndrome de Kearns-Sayre/diagnóstico
Síndrome MELAS/diagnóstico
Miopatias Mitocondriais/diagnóstico
Acidente Vascular Cerebral/diagnóstico
[Mh] Termos MeSH secundário: Acidose Láctica/patologia
Acidose Láctica/terapia
Diagnóstico Diferencial
Seres Humanos
Síndrome de Kearns-Sayre/patologia
Síndrome de Kearns-Sayre/terapia
Síndrome MELAS/patologia
Síndrome MELAS/terapia
Miopatias Mitocondriais/patologia
Miopatias Mitocondriais/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170622
[Lr] Data última revisão:
170622
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170217
[St] Status:MEDLINE
[do] DOI:10.11477/mf.1416200650


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[PMID]:28179228
[Au] Autor:Nabben M; Schmitz JPJ; Ciapaite J; le Clercq CMP; van Riel NA; Haak HR; Nicolay K; de Coo IFM; Smeets H; Praet SF; van Loon LJ; Prompers JJ
[Ad] Endereço:Biomedical NMR, Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, The Netherlands.
[Ti] Título:Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy.
[So] Source:Am J Physiol Regul Integr Comp Physiol;312(5):R689-R701, 2017 May 01.
[Is] ISSN:1522-1490
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Muscle weakness and exercise intolerance negatively affect the quality of life of patients with mitochondrial myopathy. Short-term dietary nitrate supplementation has been shown to improve exercise performance and reduce oxygen cost of exercise in healthy humans and trained athletes. We investigated whether 1 wk of dietary inorganic nitrate supplementation decreases the oxygen cost of exercise and improves mitochondrial function in patients with mitochondrial myopathy. Ten patients with mitochondrial myopathy (40 ± 5 yr, maximal whole body oxygen uptake = 21.2 ± 3.2 ml·min ·kg body wt , maximal work load = 122 ± 26 W) received 8.5 mg·kg body wt ·day inorganic nitrate (~7 mmol) for 8 days. Whole body oxygen consumption at 50% of the maximal work load, in vivo skeletal muscle oxidative capacity (evaluated from postexercise phosphocreatine recovery using P-magnetic resonance spectroscopy), and ex vivo mitochondrial oxidative capacity in permeabilized skinned muscle fibers (measured with high-resolution respirometry) were determined before and after nitrate supplementation. Despite a sixfold increase in plasma nitrate levels, nitrate supplementation did not affect whole body oxygen cost during submaximal exercise. Additionally, no beneficial effects of nitrate were found on in vivo or ex vivo muscle mitochondrial oxidative capacity. This is the first time that the therapeutic potential of dietary nitrate for patients with mitochondrial myopathy was evaluated. We conclude that 1 wk of dietary nitrate supplementation does not reduce oxygen cost of exercise or improve mitochondrial function in the group of patients tested.
[Mh] Termos MeSH primário: Exercício
Mitocôndrias Musculares/metabolismo
Miopatias Mitocondriais/tratamento farmacológico
Miopatias Mitocondriais/fisiopatologia
Nitratos/administração & dosagem
Consumo de Oxigênio/efeitos dos fármacos
[Mh] Termos MeSH secundário: Administração Oral
Adulto
Idoso
Tolerância ao Exercício/efeitos dos fármacos
Feminino
Seres Humanos
Masculino
Meia-Idade
Mitocôndrias Musculares/efeitos dos fármacos
Força Muscular/efeitos dos fármacos
Desempenho Psicomotor/efeitos dos fármacos
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nitrates)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170818
[Lr] Data última revisão:
170818
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170210
[St] Status:MEDLINE
[do] DOI:10.1152/ajpregu.00264.2016


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[PMID]:28132977
[Au] Autor:Yamamoto Y; Matsui N; Hiramatsu Y; Miyazaki Y; Nodera H; Izumi Y; Takashima H; Kaji R
[Ad] Endereço:Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School.
[Ti] Título:Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
[So] Source:Rinsho Shinkeigaku;57(2):82-87, 2017 02 25.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization. On suspicion of lipid metabolism disorders, we performed serum acylcarnitine analysis, and which revealed mildly elevated long-chain fatty acids. We re-examined variants obtained via exome sequencing and found a mutation in HADHB. Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid beta-oxidation caused by HADHA or HADHB mutation. It can be a life-threatening multiorgan disorder with early infantile onset, but it can also present in childhood or adolescence with peripheral neuropathy and recurrent rhabdomyolysis. This case of adult-diagnosed MTP deficiency was characterized by slowly progressive peripheral neuropathy masquerading CMT in addition to muscular symptoms. MTP deficiency should be considered in patients with the combination of peripheral neuropathy and recurrent rhabdomyolysis.
[Mh] Termos MeSH primário: Cardiomiopatias/diagnóstico
Erros Inatos do Metabolismo Lipídico/diagnóstico
Miopatias Mitocondriais/diagnóstico
Proteína Mitocondrial Trifuncional/deficiência
Doenças do Sistema Nervoso/diagnóstico
Rabdomiólise/diagnóstico
[Mh] Termos MeSH secundário: Biomarcadores/sangue
Cardiomiopatias/complicações
Cardiomiopatias/genética
Carnitina/análogos & derivados
Carnitina/sangue
Doença de Charcot-Marie-Tooth
Diagnóstico Diferencial
Progressão da Doença
Testes Genéticos
Seres Humanos
Erros Inatos do Metabolismo Lipídico/complicações
Erros Inatos do Metabolismo Lipídico/genética
Masculino
Meia-Idade
Miopatias Mitocondriais/complicações
Miopatias Mitocondriais/genética
Proteína Mitocondrial Trifuncional/genética
Subunidade beta da Proteína Mitocondrial Trifuncional/genética
Mutação
Doenças do Sistema Nervoso/complicações
Doenças do Sistema Nervoso/genética
Doenças do Sistema Nervoso Periférico/etiologia
Recidiva
Rabdomiólise/complicações
Rabdomiólise/etiologia
Rabdomiólise/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (acylcarnitine); EC 2.3.1.16 (HADHB protein, human); EC 2.3.1.16 (Mitochondrial Trifunctional Protein); EC 2.3.1.16 (Mitochondrial Trifunctional Protein, beta Subunit); S7UI8SM58A (Carnitine)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170131
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-000976


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[PMID]:28112527
[Au] Autor:Shahrokhi M; Shafiei M; Galehdari H; Shariati G
[Ad] Endereço:Department of Genetics, Faculty of Science, Shahid Chamran University, Ahvaz, Iran.
[Ti] Título:Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
[So] Source:Arch Iran Med;20(1):22-27, 2017 Jan.
[Is] ISSN:1735-3947
[Cp] País de publicação:Iran
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of eight parts (subunits): four α-subunits containing LCEH (long-chain 2,3-enoyl-CoA  hydratase) and LCHAD (long-chain 3-hydroxyacyl CoA dehydrogenase) activity, and four ß-subunits that possess LCKT (long-chain  3-ketoacyl-CoA thiolase) activity which catalyzes three out of four steps in ß-oxidation spiral of long-chain fatty acid. Its deficiency is an autosomal recessive disorder that causes a clinical spectrum of diseases. MATERIALS AND METHODS: A blood spot was collected from the patient's original newborn screening card with parental informed consent. A newborn screening test and quantity plasma acylcarnitine profile analysis by MS/MS were performed. After isolation of DNA and Amplification of all exons of the HADHA and HADHB, directly Sequence analyses of all exons and the flanking introns both of genes were performed. RESULTS: Here, we report a novel mutation in a patient with MTP deficiency diagnosed with newborn screening test and quantity plasma acylcarnitine profile analysis by MS/MS and then confirmed by enzyme analysis in cultured fibroblasts and direct sequencing of the HADHA and HADHB genes. Molecular analysis of causative genes showed a missense mutation (p.Q385P) c.1154A > C in exon 14 of HADHB gene. CONCLUSIONS: Since this mutation was not found in 50 normal control cases; so it was concluded that c.1154A > C mutation was a causative mutation. Phenotype analysis of this mutation predicted pathogenesis which reduces the stability of the MTP protein complex.
[Mh] Termos MeSH primário: Cardiomiopatias/genética
Erros Inatos do Metabolismo Lipídico/genética
Miopatias Mitocondriais/genética
Subunidade beta da Proteína Mitocondrial Trifuncional/genética
Proteína Mitocondrial Trifuncional/deficiência
Doenças do Sistema Nervoso/genética
Rabdomiólise/genética
[Mh] Termos MeSH secundário: Análise Mutacional de DNA
Seres Humanos
Recém-Nascido
Irã (Geográfico)
Masculino
Proteína Mitocondrial Trifuncional/genética
Mutação de Sentido Incorreto
Triagem Neonatal
Espectrometria de Massas em Tandem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.1.16 (HADHB protein, human); EC 2.3.1.16 (Mitochondrial Trifunctional Protein); EC 2.3.1.16 (Mitochondrial Trifunctional Protein, beta Subunit)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170124
[St] Status:MEDLINE
[do] DOI:0172001/AIM.006



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