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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.

[1] 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.

[2] 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.

[3] Chan, D.C., 2006. Mitochondria: Dynamic organelles in disease, aging, and development. Cell, 125(7):1241-1252.

[4] 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.

[5] Liang, M.H., Wong, L.J., 1998. Yield of mtDNA mutation analysis in 2000 patients. Am. J. Med. Genet., 77(5):395-400.

[6] 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.

[7] 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.

[8] Ryan, M.T., Hoogenraad, N.J., 2007. Mitochondrial-nuclear communications. Annu. Rev. Biochem., 76(1):701-722.

[9] Schwartz, M., Vissing, J., 2002. Paternal inheritance of mitochondrial DNA. N. Engl. J. Med., 347(8):576-580.

[10] 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.

[11] 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.

[12] 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.

[13] 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.

[14] 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.

[15] Zeviani, M., Carelli, V., 2007. Mitochondrial disorders. Curr. Opin. Neurol., 20(5):564-571.