Mitochondrial DNA mutations in human disease

被引:327
作者
Dimauro, S [1 ]
Schon, EA [1 ]
机构
[1] Columbia Univ, Coll Phys & Surg 4420, New York, NY 10032 USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 106卷 / 01期
关键词
mitochondrial DNA mutations; heteroplasmy; pathogenicity; mitochondrial cytopathies; mitochondrial protein synthesis; mitochondrial protein-coding genes;
D O I
10.1002/ajmg.1392
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a Pandora's box of pathogenic mutations: 13 years into the era of "molecular mitochondrial medicine," more than 100 pathogenic point mutations and innumerable rearrangements have been associated with a striking variety of multisystemic as well as tissue-specific human diseases. After reviewing the principles of mitochondrial genetics, we consider disorders due to mutations in genes affecting mitochondrial protein synthesis and disorders due to mutations in protein-coding genes. In contrast to the remarkable progress in our understanding of etiology, pathogenesis is only partially explained by the rules of mitochondrial genetics and remains largely unclear. We review recent progress in prenatal diagnosis, epidemiology, and in the development of animal models harboring mtDNA mutations. (C) 2001 Wiley-Liss, Inc.
引用
收藏
页码:18 / 26
页数:9
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