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J Cell Biol. 2011 May 30;193(5):809-18. doi: 10.1083/jcb.201010024. Epub 2011 May 23.

Mitochondrial DNA mutations in disease and aging.

Author information

1
Institute for Medical Sciences, Ajou University School of Medicine, Suwon 443-721, Korea.

Abstract

The small mammalian mitochondrial DNA (mtDNA) is very gene dense and encodes factors critical for oxidative phosphorylation. Mutations of mtDNA cause a variety of human mitochondrial diseases and are also heavily implicated in age-associated disease and aging. There has been considerable progress in our understanding of the role for mtDNA mutations in human pathology during the last two decades, but important mechanisms in mitochondrial genetics remain to be explained at the molecular level. In addition, mounting evidence suggests that most mtDNA mutations may be generated by replication errors and not by accumulated damage.

PMID:
21606204
PMCID:
PMC3105550
DOI:
10.1083/jcb.201010024
[Indexed for MEDLINE]
Free PMC Article

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