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Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

Payne, Brendan A I, Wilson, Ian J, Hateley, Charlotte A, Horvath, Rita, Santibanez-Koref, Mauro, Samuels, David C, Price, D Ashley, Chinnery, Patrick F·2011·Nature Genetics
DOI 10.1038/ng.863PMC PMC3223397
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Crossref · 10.1038/ng.863

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  • Studies of accelerated aging in HIV-infected patients treated with anti-retroviral drugs support the concept of clonal expansion of mtDNA mutations originated early in life.

    “Studies of accelerated aging in HIV-infected patients treated with anti-retroviral drugs, which interfere with mtDNA replication, have supported the concept of clonal expansion of mtDNA mutations originated early in life (Payne et al., 2011).”

    From The Hallmarks of Aging (2013) · cites this paper as Payne et al., 2011

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Research works printed but not linked: 30

  1. Effros, R.B. et al. Aging and infectious diseases: workshop on HIV infection and aging: what is known and future research directions. Clin. Infect. Dis. 47, 542–553 (2008). · DOI · Paper page
  2. Bua, E. et al. Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers. Am. J. Hum. Genet. 79, 469–480 (2006). · DOI · Paper page
  3. Brierley, E.J., Johnson, M.A., James, O.F. & Turnbull, D.M. Effects of physical activity and age on mitochondrial function. QJM 89, 251–258 (1996). · DOI
  4. Desquilbet, L. et al. HIV-1 infection is associated with an earlier occurrence of a phenotype related to frailty. J. Gerontol. A Biol. Sci. Med. Sci. 62, 1279–1286 (2007). · DOI · Paper page
  5. Oursler, K.K., Sorkin, J.D., Smith, B.A. & Katzel, L.I. Reduced aerobic capacity and physical functioning in older HIV-infected men. AIDS Res. Hum. Retroviruses 22, 1113–1121 (2006). · DOI
  6. Guaraldi, G. et al. Coronary aging in HIV-infected patients. Clin. Infect. Dis. 49, 1756–1762 (2009). · DOI
  7. Valcour, V. et al. Higher frequency of dementia in older HIV-1 individuals: the Hawaii Aging with HIV-1 Cohort. Neurology 63, 822–827 (2004). · DOI
  8. Lim, S.E. & Copeland, W.C. Differential incorporation and removal of antiviral deoxynucleotides by human DNA polymerase gamma. J. Biol. Chem. 276, 23616–23623 (2001). · DOI
  9. McComsey, G.A. et al. Improvements in lipoatrophy, mitochondrial DNA levels and fat apoptosis after replacing stavudine with abacavir or zidovudine. AIDS 19, 15–23 (2005). · DOI
  10. Côté, H.C. et al. Changes in mitochondrial DNA as a marker of nucleoside toxicity in HIV-infected patients. N. Engl. J. Med. 346, 811–820 (2002). · DOI
  11. Maagaard, A. et al. Mitochondrial (mt)DNA changes in tissue may not be reflected by depletion of mtDNA in peripheral blood mononuclear cells in HIV-infected patients. Antivir. Ther. 11, 601–608 (2006). · DOI
  12. Hayashi, J. et al. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc. Natl. Acad. Sci. USA 88, 10614–10618 (1991). · DOI
  13. Brierley, E.J., Johnson, M.A., Lightowlers, R.N., James, O.F. & Turnbull, D.M. Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle. Ann. Neurol. 43, 217–223 (1998). · DOI
  14. Fayet, G. et al. Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function. Neuromuscul. Disord. 12, 484–493 (2002). · DOI · Paper page
  15. Pereira, L. et al. The diversity present in 5,140 human mitochondrial genomes. Am. J. Hum. Genet. 84, 628–640 (2009). · DOI
  16. Lee, H.C., Pang, C.Y., Hsu, H.S. & Wei, Y.H. Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing. Biochim. Biophys. Acta 1226, 37–43 (1994). · DOI
  17. Chinnery, P.F. & Samuels, D.C. Relaxed replication of mtDNA: a model with implications for the expression of disease. Am. J. Hum. Genet. 64, 1158–1165 (1999). · DOI
  18. Wanrooij, S. et al. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res. 32, 3053–3064 (2004). · DOI
  19. Del Bo, R. et al. Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain. Neurology 61, 903–908 (2003). · DOI
  20. Cherry, C.L. et al. Tissue-specific associations between mitochondrial DNA levels and current treatment status in HIV-infected individuals. J. Acquir. Immune Defic. Syndr. 42, 435–440 (2006). · DOI
  21. Smyth, K. et al. Prevalence of and risk factors for HIV-associated neuropathy in Melbourne, Australia 1993–2006. HIV Med. 8, 367–373 (2007). · DOI
  22. Diaz, F. et al. Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control. Nucleic Acids Res. 30, 4626–4633 (2002). · DOI
  23. Greaves, L.C. et al. Quantification of mitochondrial DNA mutation load. Aging Cell 8, 566–572 (2009). · DOI
  24. Kollberg, G. et al. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. Eur. J. Hum. Genet. 13, 463–469 (2005). · DOI
  25. Durham, S.E., Samuels, D.C., Cree, L.M. & Chinnery, P.F. Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A→G. Am. J. Hum. Genet. 81, 189–195 (2007). · DOI
  26. Shieh, D.B. et al. Mitochondrial DNA alterations in blood of the humans exposed to N,N-dimethylformamide. Chem. Biol. Interact. 165, 211–219 (2007). · DOI
  27. Durham, S.E., Samuels, D.C. & Chinnery, P.F. Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells? Neuromuscul. Disord. 16, 381–386 (2006). · DOI
  28. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403–410 (1990). · DOI · Paper page
  29. Quinlan, A.R., Stewart, D.A., Stromberg, M.P. & Marth, G.T. Pyrobayes: an improved base caller for SNP discovery in pyrosequences. Nat. Methods 5, 179–181 (2008). · DOI
  30. He, Y. et al. Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. Nature 464, 610–614 (2010). · DOI

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Metadata

Authors
Payne, B. A. I., Wilson, I. J., Hateley, C. A., Horvath, R., Santibanez-Koref, M., Samuels, D. C., Price, D. A., & Chinnery, P. F.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2011-06-26
Volume
43
Issue
8
Pages
806-810
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/ng.863
PMC
PMC3223397
Cited by
198
References
4
Language
en
Licence
www.springer.com/tdm (tdm)

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