Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

Jaime M. Ross, James B. Stewart, Erik Hagström, Stefan Brené, Arnaud Mourier, Giuseppe Coppotelli, Christoph Freyer, Marie Lagouge, Barry J. Hoffer, Lars Olson () and Nils-Göran Larsson ()
Additional contact information
Jaime M. Ross: Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden
James B. Stewart: Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Strasse 9b, 50931 Cologne, Germany
Erik Hagström: Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden
Stefan Brené: Care Sciences, and Society, KERIC, Karolinska Institutet, 171 76 Stockholm, Sweden
Arnaud Mourier: Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Strasse 9b, 50931 Cologne, Germany
Giuseppe Coppotelli: Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden
Christoph Freyer: Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Strasse 9b, 50931 Cologne, Germany
Marie Lagouge: Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Strasse 9b, 50931 Cologne, Germany
Barry J. Hoffer: University Hospitals, Case Western Reserve Medical Center, 11100 Eucid Avenue, Cleveland, Ohio 44106, USA
Lars Olson: Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden
Nils-Göran Larsson: Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Strasse 9b, 50931 Cologne, Germany

Nature, 2013, vol. 501, issue 7467, 412-415

Abstract: Mutations in mitochondrial DNA (mtDNA) accumulate at a higher rate than mutations in nuclear DNA, and although somatic mtDNA mutations are known to be involved in mammalian ageing, the role of germline mutations in this process is unclear: here germline-transmitted mtDNA mutations are shown to be associated with ageing and brain malformations, and maternally transmitted mtDNA mutations may thus influence both development and ageing.

Date: 2013
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DOI: 10.1038/nature12474

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