[MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is one of the clinically-defined mitochondrial diseases, characterized by early onset and stroke-like symptoms. A point mutation at nucleotide pair 3243 within the tRNA-Leu (UUR) gene is found in 80% of MELAS patients and another mutation at nucleotide pair 3271 in 10%. In vitro and in vivo expression studies on 3243 mutant genome show that it affects both the transfer RNA and transcription termination functionally. By virtue of further analyses on relationship between the mutations and phenotypes, a new approach to deal with the disease could be obtainable.
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D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007223:Infant; D017241:MELAS Syndrome / Q000235:genetics* / Q000503:physiopathology; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D012356:RNA, Transfer, Leu / Q000235:genetics; D014158:Transcription, Genetic
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu