Mitochondrial DNA mutations in human disease

被引：1345

作者：

Taylor, RW ^{[1
]}

Turnbull, DM ^{[1
]}

机构：

[1] Newcastle Univ, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 05期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/nrg1606

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The human mitochondrial genome is extremely small compared with the nuclear genome, and mitochondrial genetics presents unique clinical and experimental challenges. Despite the diminutive size of the mitochondrial genome, mitochondrial DNA ( mtDNA) mutations are an important cause of inherited disease. Recent years have witnessed considerable progress in understanding basic mitochondrial genetics and the relationship between inherited mutations and disease phenotypes, and in identifying acquired mtDNA mutations in both ageing and cancer. However, many challenges remain, including the prevention and treatment of these diseases. This review explores the advances that have been made and the areas in which future progress is likely.

引用

页码：389 / 402

页数：14

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