The DOI matches its Crossref record; 249 of the 249 references it cites were found in a registry or an index.
Mitochondrial DNA copy number in human disease: the more the better?
Open accessAbstract
Most of the genetic information has been lost or transferred to the nucleus during the evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that is essential for oxidative phosphorylation (OXPHOS). In mammals, a gene‐dense circular mitochondrial DNA (mtDNA) of about 16.5 kb encodes 13 proteins, which constitute only 1% of the mitochondrial proteome. Mammalian mtDNA is present in thousands of copies per cell and mutations often affect only a fraction of them. Most pathogenic human mtDNA mutations are recessive and only cause OXPHOS defects if present above a certain critical threshold. However, emerging evidence strongly suggests that the proportion of mutated mtDNA copies is not the only determinant of disease but that also the absolute copy number matters. In this review, we critically discuss current knowledge of the role of mtDNA copy number regulation in various types of human diseases, including mitochondrial disorders, neurodegenerative disorders and cancer, and during ageing. We also provide an overview of new exciting therapeutic strategies to directly manipulate mtDNA to restore OXPHOS in mitochondrial diseases.
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Cites
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Cited by
Dash, U. C., Bhol, N. K., Swain, S. K., Samal, R. R., Nayak, P. K., Raina, V., Panda, S. K., Kerry, R. G., Duttaroy, A. K., & Jena, A. B. (2025) · Acta Pharmaceutica Sinica B · doi:10.1016/j.apsb.2024.10.004 · Cited by 700
Mitochondrial Metabolism: A New Dimension of Personalized Oncology
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Hibshman, J. D., Clark-Hachtel, C. M., Bloom, K. S., & Goldstein, B. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114956 · Cited by 5
(2026) · doi:10.1093/nar/gkaf1390 · Cited by 3
Metadata
- Authors
- Filograna, R., Mennuni, M., Alsina, D., & Larsson, N.
- Venue
- FEBS Letters
- Publisher
- Wiley
- Published
- 2020-12-25
- Volume
- 595
- Issue
- 8
- Pages
- 976-1002
- ISSN
- 0014-5793 (ISSN-L)
- 1873-3468
- OpenAlex
- W3113079980
- Cited by
- 478
- References
- 249
- FWCI
- 15.14
- Type
- journal article
- Language
- en
- Open access
- hybrid
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