Skip to main content
Log in

Mitochondrion and its related disorders: Making a comeback

  • Short Review
  • Published:
Journal of Zhejiang University SCIENCE B Aims and scope Submit manuscript

Abstract

The great majority of genetic disorders are caused by defects in the nuclear genome. However, some significant diseases are the result of mitochondrial mutations. Because of the unique features of the mitochondria, these diseases display characteristic modes of inheritance and a large degree of phenotypic variability. Recent studies have suggested that mitochondrial dysfunction plays a central role in a wide range of age-related disorders and various forms of cancer.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Andrews, R.M., Kubacka, I., Chinnery, P.F., Lightowlers, R.N., Turnbull, D.M., Howell, N., 1999. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet., 23(2):147. [doi:10.1038/13779]

    Article  PubMed  CAS  Google Scholar 

  • Calvo, S., Jain, M., Xie, X., Sheth, S.A., Chang, B., Goldberger, O.A., Spinazzola, A., Zeviani, M., Carr, S.A., Mootha, V.K., 2006. Systematic identification of human mitochondrial disease genes through integrative genomics. Nat. Genet., 38(5):576–582. [doi:10.1038/ng1776]

    Article  PubMed  CAS  Google Scholar 

  • Chan, D.C., 2006. Mitochondria: Dynamic organelles in disease, aging, and development. Cell, 125(7):1241–1252. [doi:10.1016/j.cell.2006.06.010]

    Article  PubMed  CAS  Google Scholar 

  • Hudson, G., Keers, S., Man, P.Y., Griffiths, P., Huoponen, K., Savontaus, M.L., Nikoskelainen, E., Zeviani, M., Carrara, F., Horvath, R., et al., 2005. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am. J. Hum. Genet., 77(6):1086–1091. [doi:10.1086/498176]

    Article  PubMed  CAS  Google Scholar 

  • Liang, M.H., Wong, L.J., 1998. Yield of mtDNA mutation analysis in 2000 patients. Am. J. Med. Genet., 77(5):395–400. [doi:10.1002/(SICI)1096-8628(19980605)77:5<395::AID-AJMG8>3.0.CO;2-M]

    Article  PubMed  CAS  Google Scholar 

  • Luoma, P., Melberg, A., Rinne, J.O., Kaukonen, J.A., Nuponen, N.N., Chalmers, R.M., Oldfors, A., Rautakorpi, I., Peltonen, L., Majamaa, K., et al., 2004. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: Clinical and molecular genetic study. Lancet, 364(9437):875–882. [doi:10.1016/S0140-6736(04)16983-3]

    Article  PubMed  CAS  Google Scholar 

  • Pospisilik, J.A., Knauf, C., Joza, N., Benit, P., Orthofer, M., Cani, P.D., Ebersberger, I., Nakashima, T., Sarao, R., Neely, G., et al., 2007. Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes. Cell, 131(3):476–491. [doi:10.1016/j.cell.2007.08.047]

    Article  PubMed  CAS  Google Scholar 

  • Ryan, M.T., Hoogenraad, N.J., 2007. Mitochondrial-nuclear communications. Annu. Rev. Biochem., 76(1):701–722. [doi:10.1146/annurev.biochem.76.052305.091720]

    Article  PubMed  CAS  Google Scholar 

  • Schwartz, M., Vissing, J., 2002. Paternal inheritance of mitochondrial DNA. N. Engl. J. Med., 347(8):576–580. [doi:10.1056/NEJMoa020350]

    Article  PubMed  Google Scholar 

  • Trifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J.N., Rovio, A.T., Bruder, C.E., Bohlooly, Y.M., Gidlof, S., Oldfors, A., Wibom, R., Törnell, J., Jacobs, H.T., Larsson, N.G., 2004. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature, 429(6990):417–423. [doi:10.1038/nature02517]

    Article  PubMed  CAS  Google Scholar 

  • Wallace, D.C., 2005. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu. Rev. Genet., 39(1):359–407. [doi:10.1146/annurev.genet.39.110304.095751]

    Article  PubMed  CAS  Google Scholar 

  • Wallace, D.C., 2007. Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu. Rev. Biochem., 76(1):781–821. [doi:10.1146/annurev.biochem.76.081205.150955]

    Article  PubMed  CAS  Google Scholar 

  • Wallace, D.C., Singh, G., Lott, M.T., Hodge, J.A., Schurr, T.G., Lezza, A.M., Elsas, L.J. 2nd, Nikoskelainen, E.K., 1988. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science, 242(4884):1427–1430. [doi:10.1126/science.3201231]

    Article  PubMed  CAS  Google Scholar 

  • Xia, C., Meng, Q., Liu, L.Z., Rojanasakul, Y., Wang, X.R., Jiang, B.H., 2007. Reactive oxygen species regulate angiogenesis and tumor growth through vascular endothelial growth factor. Cancer Res., 67(22):10823–10830. [doi:10.1158/0008-5472.CAN-07-0783]

    Article  PubMed  CAS  Google Scholar 

  • Zeviani, M., Carelli, V., 2007. Mitochondrial disorders. Curr. Opin. Neurol., 20(5):564–571.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Xian-ning Zhang.

Additional information

Project supported by the Natural Science Foundation of Zhejiang Province (No. 2007C33049), China

Rights and permissions

Reprints and permissions

About this article

Cite this article

Zhang, Xn., Qi, M. Mitochondrion and its related disorders: Making a comeback. J. Zhejiang Univ. Sci. B 9, 90–92 (2008). https://doi.org/10.1631/jzus.B0710621

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1631/jzus.B0710621

Key words

Document code

CLC number

Navigation