title: Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.
abstract: A patient with mitochondrial encephalomyopathy who died from progressive intractable cardiac failure at the age of 18 is reported. At the age of 4, he presented with short stature, but multiorgan disorders including deafness, focal glomerulosclerosis, epilepsy and dilated cardiomyopathy appeared later in his clinical course. Laboratory tests showed hyperlactatemia and hyperpyruvatemia. Histopathological findings demonstrated mitochondrial myopathy with ragged red fibers and focal cytochrome C oxidase-deficient fibers in skeletal and cardiac muscles. The activity of cytochrome C oxidase was 30% less than the control level in skeletal muscle. Sequencing of the entire mitochondrial tRNA genome revealed a novel point mutation in the tRNA(Ile) region (nt 4269). This A-to-G substitution was found in none of the 30 controls by screening using mispairing PCR and Ssp I digestion methods, suggesting that this new mutation was pathogenic in our case.
authors.affiliation: Department of Pediatrics, Osaka University Medical School, Suita, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Taniike
authors.forename: H
authors.initials: H
authors.lastname: Fukushima
authors.forename: I
authors.initials: I
authors.lastname: Yanagihara
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: J
authors.initials: J
authors.lastname: Tanaka
authors.forename: H
authors.initials: H
authors.lastname: Fujimura
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: T
authors.initials: T
authors.lastname: Sano
authors.forename: K
authors.initials: K
authors.lastname: Yamaoka
authors.forename: K
authors.initials: K
authors.lastname: Inui
mesh_terms: D000293:Adolescent; D000818:Animals; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D003643:Death; D015894:Genome, Human; D006321:Heart / Q000503:physiopathology; D006801:Humans; D007962:Leukocytes / Q000502:physiology; D008297:Male; D008931:Mitochondria, Muscle / Q000502:physiology; D008969:Molecular Sequence Data; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D009690:Nucleic Acid Conformation; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction; D012355:RNA, Transfer, Ile / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
chemical_list: D004272:DNA, Mitochondrial; D009838:Oligodeoxyribonucleotides; D012355:RNA, Transfer, Ile