Article
Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.
Cold Spring Harbor perspectives in biology - 1 Nov 2013
Wallace Douglas C, Chalkia Dimitra
Abstract excerpt
The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the common "complex" diseases. The maternally inherited mtDNA codes for essential energy genes, is present in thousands of copies per cell, and has a very high mutation rate. New mtDNA mutations arise among thousands of other mtDNAs. The mechanisms by which these "heteroplasmic" mtDNA mutations come to predominate in the female...
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