Aging Aging

Mitochondrial DNA Mutations 27711. Tanno, Y., Yoneda, M., Tanaka, K., Tanaka, H., Yamazaki, M., Nishizawa, M.,Wakabayashi, K., Ohama, E., and Tsuji, S. (1995) Quantitation of heteroplasmy ofmitochondrial tRNA Leu(UUR) gene using PCR-SSCP. Muscle Nerve 18, 1390–1397.12. Howell, N., Halvorson, S., Kubacka, I., Mccullough, D. A., Bindoff, L. A., andTurnbull, D. M. (1992) Mitochondrial gene segregation in mammals: is the bottleneckalways narrow? Hum. Genet. 90, 117–120.13. Ghosh, S. S., Fahy, E., Bodis-Wollner, I., Sherman, J., and Howell, N. (1996)Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy familyby multiplexed primer-extension analysis and nucleotide sequencing. Am. J. Hum.Genet. 58, 325–334.14. Fahy, E., Nazarbaghi, R., Zomorrodi, M., Herrnstadt, C., Parker, W. D., Davis, R.E., and Ghosh, S. S. (1997) Multiple fluorescence-based primer extension methodfor quantitative mutation analysis of mitochondrial DNA and its diagnostic applicationto Alzheimer’s disease. Nucleic Acids Res. 25, 3102–3109.15. Tanno, Y., Yoneda, M., Nonaka, I., Tanaka, K., Miyatake, T., and Tsuji, S. (1991)Quantitation of mitochondrial DNA carrying tRNA Lys mutation in MERRF patients.Biochem. Biophys. Res. Commun. 179, 880–885.16. Moraes, C. T., Ricci, E., Bonilla, E., DiMauro, S., and Schon, E. A. (1992) Themitochondrial tRNA Leu(UUR) mutation in mitochondrial encephalomyopathy, lacticacidosis, and stroke-like episodes (MELAS): genetic, biochemical, and morphologicalcorrelations in skeletal muscle. Am. J. Hum. Genet. 50, 934–939.17. Bidooki, S. K., Johnson, M. A., Chrzanowska-Lightowlers, Z., Bindoff, L. A., andLightowlers, R. N. (1997) Intracellular mitochondrial triplasmy in a patient withtwo heteroplasmic base changes. Am. J. Hum. Genet. 60, 1430–1438.18. Yoneda, M., Tanno, Y., Tsuji, S., and Attardi, G. (1996) Detection and quantificationof point mutations in mitochondrial DNA by PCR. Methods Enzymol. 264,432–441.19. Chalmers, R. M., Lamont, P. J., Nelson, I., Ellison, D. W., Thomas, N. H., Harding,A. E., and Hammans, S. R. (1997) A mitochondrial DNA tRNA Val point mutationassociated with adult-onset Leigh syndrome. Neurology 49, 589–592.