title: Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy.
abstract: Recent advances suggest that mutations in nuclear DNA are involved in the etiology of autosomal dominant hypertrophic cardiomyopathy. Mitochondria have their own DNA, and mutations in mitochondrial DNA have been shown to contribute to the genesis of various diseases. In this study, we developed rapid sequencing methods with the use of a fluorescence-based sequencing system and analyzed total mitochondrial DNA of seven patients with nonautosomal dominant hypertrophic cardiomyopathy. Multiple point mutations were observed in all patients with hypertrophic cardiomyopathy, although some of them were common among the subjects examined and the others are unique to each subject. Point mutations in transfer RNA genes were observed in five of the seven patients, and point mutations that replaced conserved amino acids were also observed. These mutations may result in the impairment of mitochondrial function. According to these results, mutations in mitochondrial DNA may contribute to the genesis of some cases of nonautosomal dominant hypertrophic cardiomyopathy, and our methods may be useful for the detection of point mutations in mitochondrial DNA.
authors.affiliation: Department of Internal Medicine, University of Nagoya, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Obayashi
authors.forename: K
authors.initials: K
authors.lastname: Hattori
authors.forename: S
authors.initials: S
authors.lastname: Sugiyama
authors.forename: M
authors.initials: M
authors.lastname: Tanaka
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Itoyama
authors.forename: H
authors.initials: H
authors.lastname: Deguchi
authors.forename: K
authors.initials: K
authors.lastname: Kawamura
authors.forename: Y
authors.initials: Y
authors.lastname: Koga
authors.forename: H
authors.initials: H
authors.lastname: Toshima
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012343:RNA, Transfer / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D012343:RNA, Transfer