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Mitochondrial DNA mutations in disease and aging

Park, Chan Bae, Larsson, Nils-Göran·2011·Journal of Cell Biology
DOI 10.1083/jcb.201010024PMC PMC3105550
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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.

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Metadata

Authors
Park, C. B., & Larsson, N.-G.
Affiliations
  • Institute for Medical Sciences, Ajou University School of Medicine, Suwon 443-721, Korea 1
  • Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany 2
Venue
Journal of Cell Biology
Publisher
Rockefeller University Press
Published
2011-05-23
Volume
193
Issue
5
Pages
809-818
ISSN
  • 1540-8140
  • 0021-9525
DOI
10.1083/jcb.201010024
PMC
PMC3105550
Cited by
277
References
22
Language
en

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