title: Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy.
abstract: Genetic impairment was revealed in idiopathic cardiomyopathy and the responsible DNA locus was estimated. Mitochondrial DNA were amplified from autopsied cardiac specimens from three patients who died from hypertrophic or dilated cardiomyopathy by using polymerase chain reaction (PCR). By using two novel methods for PCR gene amplification, the pleioplasmic existence of multiple populations of differently deleted mitochondrial DNA in all specimens from the patients was confirmed. Mitochondrial DNA with a 7,436 bp deletion which commonly existed among the specimens was sequenced and the direct repeat at each edge of deletion was identified as (CATCAACAACCG) which was located in ATPase 6 gene and in the D-loop region. From our results mitochondrial DNA mutations could also be an important contributory factor to cardiomyopathy.
authors: Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya, Japan.
authors: T
authors: T
authors: Ozawa
authors: M
authors: M
authors: Tanaka
authors: S
authors: S
authors: Sugiyama
authors: K
authors: K
authors: Hattori
authors: T
authors: T
authors: Ito
authors: K
authors: K
authors: Ohno
authors: A
authors: A
authors: Takahashi
authors: W
authors: W
authors: Sato
authors: G
authors: G
authors: Takada
authors: B
authors: B
authors: Mayumi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000473:pathology; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial; D000251:Adenosine Triphosphatases