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Biochem Soc Trans. 2019 Sep 4. pii: BST20190238. doi: 10.1042/BST20190238. [Epub ahead of print]

Evolving mtDNA populations within cells.

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Faculty of Mathematics and Natural Sciences, University of Bergen, Bergen, Norway
Department for Agrobiotechnology, Biotechnology in Animal Production, IFA Tulln, 3430 Tulln, Austria.
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria.


Mitochondrial DNA (mtDNA) encodes vital respiratory machinery. Populations of mtDNA molecules exist in most eukaryotic cells, subject to replication, degradation, mutation, and other population processes. These processes affect the genetic makeup of cellular mtDNA populations, changing cell-to-cell distributions, means, and variances of mutant mtDNA load over time. As mtDNA mutant load has nonlinear effects on cell functionality, and cell functionality has nonlinear effects on tissue performance, these statistics of cellular mtDNA populations play vital roles in health, disease, and inheritance. This mini review will describe some of the better-known ways in which these populations change over time in different organisms, highlighting the importance of quantitatively understanding both mutant load mean and variance. Due to length constraints, we cannot attempt to be comprehensive but hope to provide useful links to some of the many excellent studies on these topics.


heteroplasmy; mitochondria; mtDNA


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