Article
Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues.
Proceedings of the National Academy of Sciences of the United States of America - 16 Apr 2002
Nekhaeva Ekaterina, Bodyak Natalya D, Kraytsberg Yevgenya, McGrath Sean B, Van Orsouw Nathalie J, Pluzhnikov Anna, Wei Jeanne Y, Vijg Jan, Khrapko Konstantin
Abstract excerpt
Using single-cell sequence analysis, we discovered that a high proportion of cells in tissues as diverse as buccal epithelium and heart muscle contain high proportions of clonal mutant mtDNA expanded from single initial mutant mtDNA molecules. We demonstrate that intracellular clonal expansion of somatic point mutations is a common event in normal human tissues. This finding implies efficient homogenization of...
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