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Science. 2008 Feb 15;319(5865):958-62. doi: 10.1126/science.1147786.

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

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  • 1Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697, USA.

Abstract

The majority of mitochondrial DNA (mtDNA) mutations that cause human disease are mild to moderately deleterious, yet many random mtDNA mutations would be expected to be severe. To determine the fate of the more severe mtDNA mutations, we introduced mtDNAs containing two mutations that affect oxidative phosphorylation into the female mouse germ line. The severe ND6 mutation was selectively eliminated during oogenesis within four generations, whereas the milder COI mutation was retained throughout multiple generations even though the offspring consistently developed mitochondrial myopathy and cardiomyopathy. Thus, severe mtDNA mutations appear to be selectively eliminated from the female germ line, thereby minimizing their impact on population fitness.

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PMID:
18276892
[PubMed - indexed for MEDLINE]
PMCID:
PMC3049809
Free PMC Article

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