Cited by 273Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model OrganismsAutophagy in Disease and Therapy

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Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

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Ross, Jaime M., Stewart, James B., Hagström, Erik, Brené, Stefan, Mourier, Arnaud, Coppotelli, Giuseppe, Freyer, Christoph, Lagouge, Marie, Hoffer, Barry J., Olson, Lars, Larsson, Nils-Göran·2013·Nature

DOI 10.1038/nature12474PMC PMC3820420

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Abstract

Ageing is due to an accumulation of various types of damage, and mitochondrial dysfunction has long been considered to be important in this process. There is substantial sequence variation in mammalian mitochondrial DNA (mtDNA), and the high mutation rate is counteracted by different mechanisms that decrease maternal transmission of mutated mtDNA. Despite these protective mechanisms, it is becoming increasingly clear that low-level mtDNA heteroplasmy is quite common and often inherited in humans. We designed a series of mouse mutants to investigate the extent to which inherited mtDNA mutations can contribute to ageing. Here we report that maternally transmitted mtDNA mutations can induce mild ageing phenotypes in mice with a wild-type nuclear genome. Furthermore, maternally transmitted mtDNA mutations lead to anticipation of reduced fertility in mice that are heterozygous for the mtDNA mutator allele (PolgA(wt/mut)) and aggravate premature ageing phenotypes in mtDNA mutator mice (PolgA(mut/mut)). Unexpectedly, a combination of maternally transmitted and somatic mtDNA mutations also leads to stochastic brain malformations. Our findings show that a pre-existing mutation load will not only allow somatic mutagenesis to create a critically high total mtDNA mutation load sooner but will also increase clonal expansion of mtDNA mutations to enhance the normally occurring mosaic respiratory chain deficiency in ageing tissues. Our findings suggest that maternally transmitted mtDNA mutations may have a similar role in aggravating aspects of normal human ageing.

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Authors: Ross, J. M., Stewart, J. B., Hagström, E., Brené, S., Mourier, A., Coppotelli, G., Freyer, C., Lagouge, M., Hoffer, B. J., Olson, L., & Larsson, N.-G.
Affiliations: Karolinska Institutet (SE)
Max Planck Institute for Biology of Ageing (DE)
University Hospitals of Cleveland (US)
Corresponding author: Olson, Lars
Larsson, Nils-Göran
ORCID: Ross, Jaime M.
Stewart, James B.
Mourier, Arnaud
Coppotelli, Giuseppe
Freyer, Christoph
Lagouge, Marie
Hoffer, Barry J.
Larsson, Nils-Göran
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2013-08-21
Volume: 501
Issue: 7467
Pages: 412-415
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature12474
PMC: PMC3820420
OpenAlex: W2088995367
Cited by: 273
References: 33
Citations by year: 2026: 11 · 2025: 18 · 2024: 19 · 2023: 12 · 2022: 17 · 2021: 12 · 2020: 27 · 2019: 22 · 2018: 27 · 2017: 18 · 2016: 23 · 2015: 21 · 2014: 32 · 2013: 13
FWCI: 13.30
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
RePEc: Research Papers in Economics (submittedVersion)
MPG.PuRe (Max Planck Society) (submittedVersion)
Funders: National Institute on Aging (AG04418, P01AG004418)
National Institute of Neurological Disorders and Stroke (R01NS070825, NS 070825)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Autophagy in Disease and Therapy
Keywords: aging, brain malformations, somatic mtDNA mutations, mitochondrial heteroplasmy, clonal expansion, respiratory chain deficiency, fertility, mouse mutants, mitochondrial dysfunction, brain development, somatic mosaicism
MeSH terms: Aging, Alleles, Animals, Brain, Cell Nucleus, DNA, Mitochondrial, Extrachromosomal Inheritance, Female, Heterozygote, Litter Size, Male, Mice, Inbred C57BL, Mitochondria, Mutation, Phenotype, Reproduction, Stochastic Processes, Mutagenesis, Genome, Mice

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Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

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