Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases
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Mitochondrial DNA (mtDNA) is highly polymorphic at the population level, and specific mtDNA variants affect mitochondrial function. With emerging evidence that mitochondrial mechanisms are central to common human diseases, it is plausible that mtDNA variants contribute to the "missing heritability" of several complex traits. Given the central role of mtDNA genes in oxidative phosphorylation, the same genetic variants would be expected to alter the risk of developing several different disorders, but this has not been shown to date. Here we studied 38,638 individuals with 11 major diseases, and 17,483 healthy controls. Imputing missing variants from 7,729 complete mitochondrial genomes, we captured 40.41% of European mtDNA variation. We show that mtDNA variants modifying the risk of developing one disease also modify the risk of developing other diseases, thus providing independent replication of a disease association in different case and control cohorts. High-risk alleles were more common than protective alleles, indicating that mtDNA is not at equilibrium in the human population, and that recent mutations interact with nuclear loci to modify the risk of developing multiple common diseases.
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Aberrant mitochondrial functioning has been implicated in the pathogenesis of idiopathic PD with genetic analysis focusing on age-related mtDNA mutations.
“Aberrant mitochondrial functioning has been implicated in the pathogenesis of idiopathic PD with genetic analysis focusing on age-related mtDNA mutations (Bender et al., 2006; Coxhead et al., 2015; Hudson et al., 2014; Keogh and Chinnery, 2015; Kraytsberg et al., 2006).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Hudson et al., 2014
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- Authors
- Hudson, G., Gomez-Duran, A., Wilson, I. J., & Chinnery, P. F.
- Affiliations
- Wellcome Centre for Mitochondrial Research (GB)
- Corresponding author
- Chinnery, Patrick F.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2014-05-22
- Volume
- 10
- Issue
- 5
- Pages
- e1004369
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC4031051
- OpenAlex
- W1987954830
- Cited by
- 148
- References
- 68
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 8 · 2023: 11 · 2022: 8 · 2021: 16 · 2020: 20 · 2019: 11 · 2018: 22 · 2017: 15 · 2016: 12 · 2015: 15 · 2014: 4
- FWCI
- 9.95
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Newcastle University ePrints (Newcastle Univesity) (cc-by)
- Funders
- Wellcome Trust (EU-FP7-, 096919, 096919/Z/11/Z, 101876/B/13/Z, G0000934, 10187 6/Z/13/Z, 101876, 068545, G0601943)
- National Institute for Health and Care Research (G0000934, 101876/Z/13/Z, G0601943)
- Parkinson's UK (F-1202)
- Newcastle University
- Henry Smith Charity
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- Medical Research Council (MR/K000608/1, G0601943, G0000934, EU FP7)
- NIHR Newcastle Biomedical Research Centre
- Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- mitochondrial DNA variants, late-onset disease, missing heritability, disease risk, mitochondrial genome, oxidative phosphorylation, nuclear-mitochondrial interactions
- MeSH terms
- Brain Ischemia, Colitis, Ulcerative, DNA, Mitochondrial, Humans, Liver Cirrhosis, Biliary, Multiple Sclerosis, Mutation, Oxidative Phosphorylation, Parkinson Disease, Phylogeny, Schizophrenia, Spondylitis, Ankylosing
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