Perspective abstract
Nature Genetics 40, 275 - 279 (2008)
Published online: 27 February 2008 | doi:10.1038/ng.f.94
What causes mitochondrial DNA deletions in human cells?
Kim J Krishnan1,2, Amy K Reeve1, David C Samuels3, Patrick F Chinnery1, John K Blackwood1, Robert W Taylor1, Sjoerd Wanrooij4,5, Johannes N Spelbrink4, Robert N Lightowlers1 & Doug M Turnbull1,2
Abstract
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.
- Kim J. Krishnan, Amy K. Reeve, Patrick F. Chinnery, John K. Blackwood, Robert W. Taylor, Robert N. Lightowlers and Doug M. Turnbull are at the Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. e-mail: d.m.turnbull@ncl.ac.uk
- Kim J. Krishnan and Doug M. Turnbull are also at the Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, NE4 6BE, UK.
- David C. Samuels is at the Virginia Bioinformatics Institute, Virginia Polytechnic Institute and State University, Blacksburg, Virginia 24061, USA.
- Sjoerd Wanrooij and Johannes N. Spelbrink are at the Institute of Medical Technology and Tampere University Hospital, Tampere 33014, Finland.
- Sjoerd Wanrooj is also at the Karolinska Institute, Department of Metabolic Disease Novum, SE-141 86, Huddinge, Sweden.
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