Mitochondrion and its related disorders: Making a comeback

Journal of Zhejiang University: Science B

Volumn 9, Issue 2, 2008, Pages 90-92

  Zhang, Xian Ning ^a   Qi, Ming ^a  

^a ZHEJIANG UNIVERSITY   (China)

Author keywords

Mitochondria; Mitochondrial disorder; Mutation

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE;

CANCER RISK; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EYE DISEASE; GENE MUTATION; GENE REARRANGEMENT; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; INHERITANCE; MELAS SYNDROME; MERRF SYNDROME; MYOCLONUS EPILEPSY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SHORT SURVEY;

DNA, MITOCHONDRIAL; GENETIC DISEASES, INBORN; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; NEOPLASMS; OXIDATIVE PHOSPHORYLATION; OXYGEN; PHENOTYPE; REACTIVE OXYGEN SPECIES;

EID: 39049170841     PISSN: 16731581     EISSN: 18621783     Source Type: Journal    
DOI: 10.1631/jzus.B0710621     Document Type: Short Survey

References (15)

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. [doi:10.1038/13779]
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. [doi:10.1038/ng1776]
3. 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]
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. [doi:10.1086/498176]
5. 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]
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. [doi:10.1016/S0140-6736(04)16983-3]
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. [doi:10.1016/j.cell.2007.08.047]
8. 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]
9. Schwartz, M., Vissing, J., 2002. Paternal inheritance of mitochondrial DNA. N. Engl. J. Med., 347 (8):576-580. [doi:10.1056/NEJMoa020350]
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. [doi:10.1038/nature02517]
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. [doi:10.1146/ annurev.genet.39.110304.095751]
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. [doi:10.1146/annurev.biochem.76.081205.150955]
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. [doi:10.1126/science.3201231]
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. [doi:10.1158/0008-5472.CAN-07-0783]
15. Zeviani, M., Carelli, V., 2007. Mitochondrial disorders. Curr. Opin. Neurol., 20 (5):564-571.