What causes mitochondrial DNA deletions in human cells?

被引：283

作者：

Krishnan, Kim J. ^{[1
,2
]}

Reeve, Amy K. ^{[1
]}

Samuels, David C. ^{[3
]}

Chinnery, Patrick F. ^{[1
]}

Blackwood, John K. ^{[1
]}

Taylor, Robert W. ^{[1
]}

Wanrooij, Sjoerd ^{[4
,5
,6
]}

Spelbrink, Johannes N. ^{[4
,5
]}

Lightowlers, Robert N. ^{[1
]}

Turnbull, Doug M. ^{[1
,2
]}

机构：

[1] Univ Newcastle Upon Tyne, Mitochondrial Res Grp, Sch Med, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

[2] Univ Newcastle Upon Tyne, Inst Ageing & Hlth, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

[3] Virginia Polytech Inst & State Univ, Virginia Bioinformat Inst, Blacksburg, VA 24061 USA

[4] Inst Med Technol, Tampere 33014, Finland

[5] Tampere Univ Hosp, Tampere 33014, Finland

[6] Karolinska Inst, Dept Metab Dis, SE-14186 Huddinge, Sweden

来源：

NATURE GENETICS | 2008年 / 40卷 / 03期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1038/ng.f.94

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mitochondrial DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are likely to have a central role in the aging of postmitotic tissues. Understanding the mechanism of the formation and subsequent clonal expansion of these mtDNA deletions is an essential first step in trying to prevent their occurrence. We review the previous literature and recent results from our own laboratories, and conclude that mtDNA deletions are most likely to occur during repair of damaged mtDNA rather than during replication. This conclusion has important implications for prevention of mtDNA disease and, potentially, for our understanding of the aging process.

引用

页码：275 / 279

页数：5

共 48 条

[1] Up-regulation of hMUTYH, a DNA repair enzyme, in the mitochondria of substantia nigra in Parkinson's disease [J].