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What causes mitochondrial DNA deletions in human cells?

Lookup NU author(s): Dr Amy Reeve, Professor Patrick Chinnery, Dr John Blackwood, Professor Robert Taylor, Professor Robert Lightowlers, Emeritus Professor Doug Turnbull

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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. © 2008 Nature Publishing Group.

Publication metadata

Author(s): Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM

Publication type: Note

Publication status: Published

Journal: Nature Genetics

Year: 2008

Volume: 40

Issue: 3

Pages: 275-279

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

URL: http://dx.doi.org/10.1038/ng.f.94

DOI: 10.1038/ng.f.94

PubMed id: 18305478

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