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Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

Author

Listed:
  • 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
    Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden)

  • 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
    Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden)

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.

Suggested Citation

  • Jaime M. Ross & James B. Stewart & Erik Hagström & Stefan Brené & Arnaud Mourier & Giuseppe Coppotelli & Christoph Freyer & Marie Lagouge & Barry J. Hoffer & Lars Olson & Nils-Göran Larsson, 2013. "Germline mitochondrial DNA mutations aggravate ageing and can impair brain development," Nature, Nature, vol. 501(7467), pages 412-415, September.
    • Handle: RePEc:nat:nature:v:501:y:2013:i:7467:d:10.1038_nature12474
    DOI: 10.1038/nature12474
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    Cited by:

    1. Yanan Li & Yonghua Wu & Ru Xu & Jialing Guo & Fenglei Quan & Yongyuan Zhang & Di Huang & Yiran Pei & Hua Gao & Wei Liu & Junjie Liu & Zhenzhong Zhang & Ruijie Deng & Jinjin Shi & Kaixiang Zhang, 2023. "In vivo imaging of mitochondrial DNA mutations using an integrated nano Cas12a sensor," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    2. Yiqin Wang & Xiaoxian Guo & Xiumei Hong & Guoying Wang & Colleen Pearson & Barry Zuckerman & Andrew G. Clark & Kimberly O. O’Brien & Xiaobin Wang & Zhenglong Gu, 2022. "Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    3. Liang Yang & Zifeng Ruan & Xiaobing Lin & Hao Wang & Yanmin Xin & Haite Tang & Zhijuan Hu & Yunhao Zhou & Yi Wu & Junwei Wang & Dajiang Qin & Gang Lu & Kerry M. Loomes & Wai-Yee Chan & Xingguo Liu, 2024. "NAD+ dependent UPRmt activation underlies intestinal aging caused by mitochondrial DNA mutations," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
    4. Joke Mertens & Florence Belva & Aafke P. A. van Montfoort & Marius Regin & Filippo Zambelli & Sara Seneca & Edouard Couvreu de Deckersberg & Maryse Bonduelle & Herman Tournaye & Katrien Stouffs & Kurt, 2024. "Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight," Nature Communications, Nature, vol. 15(1), pages 1-16, December.

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