Nature Communications (Jun 2018)

Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations

  • Joerg P. Burgstaller,
  • Thomas Kolbe,
  • Vitezslav Havlicek,
  • Stephanie Hembach,
  • Joanna Poulton,
  • Jaroslav Piálek,
  • Ralf Steinborn,
  • Thomas Rülicke,
  • Gottfried Brem,
  • Nick S. Jones,
  • Iain G. Johnston

DOI
https://doi.org/10.1038/s41467-018-04797-2
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 12

Abstract

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Mitochondrial populations in cells may consist of heteroplasmic mixtures of mtDNA types, and their evolution through development, aging and generations is central to genetic diseases. Here the authors dissect these population dynamics using a large mouse-based data set to characterise the dynamics of heteroplasmy mean and variance throughout life and across generations.