Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA
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چکیده
منابع مشابه
MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.
BACKGROUND the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS retrospective and ongoing study of an extend...
متن کاملIdentification of miRNA, lncRNA and mRNA-associated ceRNA networks and potential biomarker for MELAS with mitochondrial DNA A3243G mutation
Researchers in the field of mitochondrial biology are increasingly unveiling of the complex mechanisms between mitochondrial dysfunction and noncoding RNAs (ncRNAs). However, roles of ncRNAs underlying mitochondrial myopathy remain unexplored. The aim of this study was to elucidate the regulating networks of dysregulated ncRNAs in Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Str...
متن کاملNovel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
BACKGROUND The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes. OBJECTIVE To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragge...
متن کاملLack of Association of Mitochondrial A3243G tRNALeu Mutation in Iranian Patients with Type 2 Diabetes
Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...
متن کاملMELAS syndrome, diabetes and thyroid disease: the role of mitochondrial oxidative stress.
The mitochondrial DNA mutation MTTL1 A3243G causes MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes). The A3243G mutation is also associated with variable endocrinopathies. We describe 2 case histories of patients with the A3243G mutation. The first patient presented with diabetes and uncontrolled Graves’ thyrotoxicosis in association with a strokelike epis...
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ژورنال
عنوان ژورنال: Metabolic Brain Disease
سال: 2007
ISSN: 0885-7490,1573-7365
DOI: 10.1007/s11011-007-9056-3