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Reassessing evidence for a postnatal mitochondrial genetic bottleneck

Nature Genetics volume 42, pages 471–472 (2010)Cite this article

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To the Editor:

Mitochondrial DNA (mtDNA) mutations are a major cause of maternally inherited human disease. Mothers often harbor a mixture of mutated and wild-type mtDNA (heteroplasmy) and transmit varying proportions of mutated and wild-type mtDNA to different offspring. Inherited mutation level correlates with disease severity, so understanding the mechanism of heteroplasmy inheritance is of major medical importance1. Rapid shifts in heteroplasmy occurring over one generation were originally explained by the mitochondrial genetic bottleneck hypothesis, whereby only a small number of the maternal mtDNA molecules were thought to populate embryos of the next generation2. With the development of mice expressing an enhanced green fluorescent protein marker of the developing germ line, it has recently become possible to test the bottleneck hypothesis directly.

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Figure 1: Mitochondrial DNA heteroplasmy variance in the germ line of postnatal heteroplasmic mice.

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Authors and Affiliations

  1. Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA

    David C Samuels & Passorn Wonnapinij

  2. Mitochondrial Research Group, Institutes for Ageing and Health and Human Genetics, Newcastle University, The Medical School, Newcastle upon Tyne, UK

    Lynsey M Cree & Patrick F Chinnery

  3. Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK

    Patrick F Chinnery

Authors
  1. David C Samuels
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  2. Passorn Wonnapinij
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  3. Lynsey M Cree
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  4. Patrick F Chinnery
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Contributions

P.F.C. and D.C.S. designed the study. Computer simulations were carried out by P.W. P.F.C. and D.C.S. wrote the first draft of the manuscript, which was critically appraised by all of the authors.

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Correspondence to Patrick F Chinnery.

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The authors declare no competing financial interests.

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Samuels, D., Wonnapinij, P., Cree, L. et al. Reassessing evidence for a postnatal mitochondrial genetic bottleneck. Nat Genet 42, 471–472 (2010). https://doi.org/10.1038/ng0610-471

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