title: Genotype and phenotype of severe mitochondrial cardiomyopathy: a recipient of heart transplantation and the genetic control.
abstract: Comprehensive analyses of mitochondrial (mt)DNA of a recipient of heart transplantation at age 7 because of severe cardiomyopathy revealed three germ line point mutations, each one in the 12S rRNA gene, in the CO1 gene and in the cytochrome b gene, respectively. As the somatic mutation, extensive fragmentation of mtDNA associated with 212 kinds of deletions was detected in contrast to 5 kinds in an age-matched negative control. A recipient's positive control having almost the same base-substitutions and mutations with the recipient except one in the CO1 gene also developed severe cardiomyopathy died at age 20. The close relation between phenotype and mtDNA genotype provides the basis of our understanding of cell death and premature ageing.
authors.affiliation: Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ozawa
authors.forename: K
authors.initials: K
authors.lastname: Katsumata
authors.forename: M
authors.initials: M
authors.lastname: Hayakawa
authors.forename: M
authors.initials: M
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Sugiyama
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Itoyama
authors.forename: S
authors.initials: S
authors.lastname: Nunoda
authors.forename: M
authors.initials: M
authors.lastname: Sekiguchi
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D002417:Cattle; D002648:Child; D017124:Conserved Sequence; D003573:Cytochrome b Group / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics; D005260:Female; D005838:Genotype; D016027:Heart Transplantation; D006801:Humans; D008297:Male; D051379:Mice; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009206:Myocardium / Q000473:pathology; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D012335:RNA, Ribosomal / Q000235:genetics*; D051381:Rats; D046048:Seals, Earless; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D014907:Whales
chemical_list: D003573:Cytochrome b Group; D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D016660:NAD(P)H Dehydrogenase (Quinone)