Abstract

Mutations of mitochondrial DNA (mtDNA) are frequent in humans and are implicated in many different types of pathology. The high substitution rate and the maternal, asexual mode of transmission of mtDNA make it more likely to accumulate deleterious mutations. Here, we discuss recent evidence that mtDNA transmission is subject to strong purifying selection in the mammalian female germ line, limiting the accumulation of such mutations. This process shapes mitochondrial sequence diversity and is therefore probably of fundamental importance for animal evolution and in human mitochondrial disease.

Author affiliations

1. James Bruce Stewart, Christoph Freyer and Nils-Göran Larsson are at the Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
2. Joanna L. Elson is at the Mitochondrial Research Group, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
3. Nils-Göran Larsson is also at the Max Planck Institute for Biology of Ageing, Gleueler Str 50a, D-50931 Cologne, Germany.

Correspondence to: Nils-Göran Larsson^1,3 Email: larsson@age.mpg.de

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