Where and when do somatic mtDNA mutations occur?

Annals of the New York Academy of Sciences
Konstantin KhrapkoYevgenya Kraytsberg

Abstract

It is generally assumed that somatic mtDNA mutations are originally created in the cells where these mutations are currently found. Accumulating data indicate, however, that cells with a particular mtDNA mutation tend to "cluster," that is, occur repeatedly within a given sample, but not in the others. Clusters likely are clonal, which implies that mtDNA mutations do not originate in the cells that currently carry them, but rather in those cells' progenitors, such as stem or satellite cells, or even earlier in the development. Importantly, a majority of mtDNA mutations appear to belong to such clusters, and thus mutational events in progenitor cells may be one of the major sources of mtDNA mutations in healthy aging tissue. More research including the analysis of multiple samples per individual is needed to confirm the existence of clustering and to distinguish between the possible clustering mechanisms.

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Citations

Jul 26, 2005·Biogerontology·Alexei Terman, Ulf T Brunk
May 12, 2009·Experimental Neurology·Alexander NicholasKonstantin Khrapko
May 16, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Christos ProukakisAnthony H Schapira
Apr 1, 2006·Biochimica Et Biophysica Acta·Reinald Pamplona, Gustavo Barja
Sep 3, 2004·Molecular Biology and Evolution·Gwenaël PiganeauAdam Eyre-Walker
Jul 25, 2018·PloS One·Hong MaShoukhrat Mitalipov

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