POINT MUTATIONS IN MITOCHONDRIAL-DNA IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY

被引:98
作者
OBAYASHI, T
HATTORI, K
SUGIYAMA, S
TANAKA, M
TANAKA, T
ITOYAMA, S
DEGUCHI, H
KAWAMURA, K
KOGA, Y
TOSHIMA, H
TAKEDA, N
NAGANO, M
ITO, T
OZAWA, T
机构
[1] UNIV NAGOYA,FAC MED,DEPT BIOMED CHEM,SHOWA KU,NAGOYA 466,JAPAN
[2] UNIV NAGOYA,FAC MED,DEPT INTERNAL MED,SHOWA KU,NAGOYA 466,JAPAN
[3] SAITAMA MED CTR,DEPT PEDIAT,KAWAGOE,JAPAN
[4] SAITAMA MED CTR,DEPT PATHOL,KAWAGOE,JAPAN
[5] OSAKA MED COLL,DEPT INTERNAL MED,TAKATSUKI,OSAKA 569,JAPAN
[6] KURUME UNIV,SCH MED,DEPT INTERNAL MED,KURUME,FUKUOKA 830,JAPAN
[7] JIKEI UNIV,AOTO HOSP,DEPT INTERNAL MED,TOKYO 105,JAPAN
关键词
D O I
10.1016/0002-8703(92)90410-W
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:1263 / 1269
页数:7
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