Published in

Rockefeller University Press, Journal of Cell Biology, 5(193), p. 809-818, 2011

DOI: 10.1083/jcb.201010024

Rockefeller University Press, Journal of Experimental Medicine, 6(208), p. i17-i17

DOI: 10.1084/jem2086oia17

Links

Tools

Export citation

Search in Google Scholar

Mitochondrial DNA mutations in disease and aging

Journal article published in 2011 by Chan Bae Park, Nils-Göran Larsson ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Red circle
Postprint: archiving forbidden
Green circle
Published version: archiving allowed
Upload
Policy details
Data provided by SHERPA/RoMEO

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.