The DOI matches its Crossref record; 150 of the 150 references it cites were found in a registry or an index.
Human mitochondrial DNA: roles of inherited and somatic mutations
Open accessAbstract
Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.
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“MtDNA haplogroups with pathogenic SNPs can contribute to metabolic, late-onset neurodegenerative diseases and autoimmune diseases through various mechanisms32,33”
From The role of mitochondria in rheumatic diseases (2022) · cites this paper as [32]
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“The mitochondrial genome has a high mutation rate, and mitochondrial mutations are increasingly implicated in mitochondrial malfunction during aging(Schon et al., 2012; Sevini et al., 2014).”
From Programmed cell death in aging (2015) · cites this paper as Schon et al., 2012
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Cited by
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Gorman, G. S., Chinnery, P. F., DiMauro, S., Hirano, M., Koga, Y., McFarland, R., Suomalainen, A., Thorburn, D. R., Zeviani, M., & Turnbull, D. M. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.80 · Cited by 1,650
Self-citationBirsoy, K., Wang, T., Chen, W. W., Freinkman, E., Abu-Remaileh, M., & Sabatini, D. M. (2015) · Cell · doi:10.1016/j.cell.2015.07.016 · Cited by 1,388
Mitochondrial dynamics and inheritance during cell division, development and disease
Mishra, P., & Chan, D. C. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3877 · Cited by 1,076
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
Stewart, J. B., & Chinnery, P. F. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3966 · Cited by 1,041
Mitochondrial function as a therapeutic target in heart failure
Brown, D. A., Perry, J. B., Allen, M. E., Sabbah, H. N., Stauffer, B. L., Shaikh, S. R., Cleland, J. G. F., Colucci, W. S., Butler, J., Voors, A. A., et al. (2016) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2016.203 · Cited by 829
Metadata
- Authors
- Schon, E. A., DiMauro, S., & Hirano, M.
- Affiliations
- Columbia University Irving Medical Center (US)
- Corresponding author
- Schon, Eric A.
- ORCID
- Hirano, Michio
- Venue
- Nature Reviews Genetics
- Published
- 2012-11-16
- Volume
- 13
- Issue
- 12
- Pages
- 878-890
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC3959762
- OpenAlex
- W1968408636
- Cited by
- 757
- References
- 150
- Citations by year
- 2026: 34 · 2025: 34 · 2024: 53 · 2023: 39 · 2022: 54 · 2021: 65 · 2020: 70 · 2019: 53 · 2018: 72 · 2017: 43 · 2016: 72 · 2015: 60 · 2014: 62 · 2013: 46
- FWCI
- 4.90
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Department of Defense
- Alzheimer's Drug Discovery Foundation
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD32062, P01HD032062)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- mitochondrial DNA mutations, primary mitochondrial disease, somatic mtDNA mutations, oxidative phosphorylation defects, neurodegeneration, aging, cancer, complex traits, mitochondrial genome
- MeSH terms
- Aging, DNA, Mitochondrial, Electron Transport, Humans, Models, Biological, Models, Genetic, Mutation, Neoplasms, Oxidative Phosphorylation, Germ-Line Mutation, Heredodegenerative Disorders, Nervous System, Mitochondrial Diseases, Genome, Mitochondrial
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