Detection of a new case harboring mitochondrial A3243G mutation of MELAS syndrome
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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 کاملA case of Melas (A3243G) on chronic dichloroacetate treatment.
eralized epileptic dysfunction, more marked in the right regions, and phenytoin was started. Mild perceptive deafness was also present. CSF and plasma routine examination was normal. The EMG suggested a moderate axonal neuropathy, mainly involving the lower limbs. Since the muscular biopsy was compatible with mitochondrial involvement, leukocyte mitochondrial DNA was sequenced, showing an A3243...
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15 صفحه اولLoss of mutant mitochondrial DNA harboring the MELAS A3243G mutation in human cybrid cells after cell-cell fusion with normal tissue-derived fibroblast cells.
Mutant mitochondrial (mt) DNA variants are related to human disease and have been investigated using cytoplasmic hybrid (cybrid) cells generated from human tumor cells in which mutant mt maintenance depends on the cell line. It is, however, unclear whether human intercellular fusion of non-tumorous cells influences the maintenance of disease-related mutant mt. A preliminary experiment of cell-c...
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...
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ژورنال
عنوان ژورنال: VNU Journal of Science: Natural Sciences and Technology
سال: 2017
ISSN: 2588-1140,2588-1140
DOI: 10.25073/2588-1140/vnunst.4570