What causes mitochondrial DNA deletions in human cells?

Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM
Nat Genet. 2008 40 (3): 275-9

PMID: 18305478 · DOI:10.1038/ng.f.94

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.

MeSH Terms (9)

DNA, Mitochondrial DNA Damage DNA Repair DNA Replication Gene Deletion Humans Mitochondrial Diseases Models, Biological Substantia Nigra

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