title: An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.
abstract: MELAS is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, but cardiac involvement also frequently occurs. An 80-year-old female patient had been suffering from insulin-dependent diabetes mellitus and neurosensory hearing loss. At the age of 79 she suffered metabolic acidosis with persistent drowsiness and was subsequently found to have severe cardiac dysfunction. Muscle biopsy disclosed the presence of abnormal mitochondria, and the MELAS gene mutation (A3243G of the tRNA(Leu(UUR))) was demonstrated. It is noteworthy that this mitochondrial disease patient has survived until a great age, which shows the wide clinical spectrum of MELAS, especially in the age of onset.
authors.affiliation: Third Department of Medicine, Shinshu University School of Medicine, Matsumoto.
authors.forename: T
authors.initials: T
authors.lastname: Higashikata
authors.forename: J
authors.initials: J
authors.lastname: Koyama
authors.forename: H
authors.initials: H
authors.lastname: Shimada
authors.forename: M
authors.initials: M
authors.lastname: Yazaki
authors.forename: M
authors.initials: M
authors.lastname: Owa
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D004272:DNA, Mitochondrial / Q000235:genetics; D004452:Echocardiography; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D008854:Microscopy, Electron; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics*; D013902:Radiography, Thoracic
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu