MITOMAP References for RNA Mutation A3243G

• Jean-Francois, M. J., Lertrit, P., Berkovic, S. F., Crimmins, D., Morris, J., Marzuki, S., Byrne, E. (1994) Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies Australian and New Zealand Journal of Medicine . 24 (2): 188-193 .


• Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E., DiMauro, S. (1993) Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA Neuromuscular Disorders . 3 (1): 43-50 .


• El Meziane, A., Lehtinen, S.K., Hance, N., Nijtmans, L.G., Dunbar, D., Holt, I.J., Jacobs, H.T. (1998) A tRNA suppressor mutation in human mitochondria Nature Genetics . 18 (4): 350-353 .


• Mirabella, M., Di Giovani, S., Silvestri, G., Tonali, P., Servidei, S. (2000) Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain . 123 (Pt 1): 93-104 .


• Moilanen, J. S., Majamaa, K. (2001) Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G European Journal of Human Genetics . 9 (1): 59-62 .


• Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .


• Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 .


• Srivastava, S., Diaz, F., Iommarini, L., Aure, K., Lombes, A., Moraes, C. T. (2009) PGC-1alpha/beta induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders Human Molecular Genetics . 18 (10): 1805-1812 .


• Koga, A., Koga, Y., Akita, Y., Fukiyama, R., Ueki, I., Yatsuga, S., Matsuishi, T. (2003) Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations Neuromuscular Disorders . 13 (3): 259-262 .


• Arpa, J., Cruz-Martinez, A., Campos, Y., Gutierrez-Molina, M., Garcia-Rio, F., Perez-Conde, C., Martin, M. A., Rubio, J. C., Del Hoyo, P., Arpa-Fernandez, A., Arenas, J. (2003) Prevalence and progression of mitochondrial diseases: a study of 50 patients Muscle and Nerve . 28 (6): 690-695 .


• Jeppesen, T. D., Schwartz, M., Olsen, D. B., Vissing, J. (2003) Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy Annals of Neurology . 54 (1): 86-92 .


• Pons, R., Andreu, A. L., Checcarelli, N., Vila, M. R., Engelstad, K., Sue, C. M., Shungu, D., Haggerty, R., de Vivo, D. C., DiMauro, S. (2004) Mitochondrial DNA abnormalities and autistic spectrum disorders Journal of Pediatrics . 144 (1): 81-85 .


• Ito, M., Tran Le, S., Chaudhari, D., Higashimoto, T., Maslim, A., Boles, R. G. (2001) Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease Mitochondrion . 1 (3): 269-278 .


• Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .


• Sohm, B., Frugier, M., Brule, H., Olszak, K., Przykorska, A., Florentz, C. (2003) Towards understanding human mitochondrial leucine aminoacylation identity Journal of Molecular Biology . 328 (5): 995-1010 .


• Wittenhagen, L. M., Kelley, S. O. (2002) Dimerization of a pathogenic human mitochondrial tRNA Nature Structural Biology . 9 (8): 586-590 .


• Pyle, A., Taylor, R. W., Durham, S. E., Deschauer, M., Schaefer, A. M., Samuels, D. C., Chinnery, P. F. (2007) Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation Journal of Medical Genetics . 44 (1): 69-74 .


• Rajasimha, H. K., Chinnery, P. F., Samuels, D. C. (2008) Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood American Journal of Human Genetics . 82 (2): 333-343 .


• Janssen, G. M., Hensbergen, P. J., van Bussel, F. J., Balog, C. I., Maassen, J. A., Deelder, A. M., Raap, A. K. (2007) The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons Human Molecular Genetics . 16 (20): 2472-2481 .


• Chinnery, P. F., Taylor, D. J., Brown, D. T., Manners, D., Styles, P., Lodi, R. (2000) Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo Annals of Neurology . 47 (3): 381-384 .


• Betts, J., Barron, M. J., Needham, S. J., Schaefer, A. M., Taylor, R. W., Turnbull, D. M. (2008) Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation Neurology . 70 (15): 1290-1292 .


• Wonnapinij, P., Chinnery, P. F., Samuels, D. C. (2008) The distribution of mitochondrial DNA heteroplasmy due to random genetic drift American Journal of Human Biology . 83 (5): 582-593 .


• Chinnery, P. F. (2002) Inheritance of mitochondrial disorders Mitochondrion . 2 (40545): 149-55 .


• Whittaker, R. G., Blackwood, J. K., Alston, C. L., Blakely, E. L., Elson, J. L., McFarland, R., Chinnery, P. F., Turnbull, D. M., Taylor, R. W. (2009) Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation Neurology . 72 (6): 568-569 .


• Chinnery, P. F., Howell, N., Andrews, R. M., Turnbull, D. M. (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity Journal of Medical Genetics . 36 (7): 505-510 .


• Thajeb, P., Lee, H. C., Pang, C. Y., Jeng, C. M., Huang, S. F., Wei, Y. H. (2000) Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA Zhonghua Yi Xue Za Zhi (Taipei) . 63 (1): 71-6 .


• Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .


• Wibrand, F., Jeppesen, T. D., Frederiksen, A. L., Olsen, D. B., Duno, M., Schwartz, M., Vissing, J. (2010) Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations Muscle and Nerve . 41 (5): 607-613 .


• Cao, Y., Ma, Y., Zhang, Y., Li, Y., Fang, F., Wang, S., Bu, D., Xu, Y., Pei, P., Li, L., Xiao, Y., Wu, H., Yang, Y., Zou, L., Qi, Y. (2010) Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies Mitochondrion . 10 (4): 330-334 .


• Vandewoestyne, M., Heindryckx, B., Lepez, T., Van Coster, R., Gerris, J., De Sutter, P., Deforce, D. (2011) Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation Mitochondrion . 11 (4): 626-629 .