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Mitochondrial DNA Part A
DNA Mapping, Sequencing, and Analysis
Volume 27, 2016 - Issue 4
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Short Communication

Mitochondrial tRNAThr A15951G mutation may not be associated with Leber’s Hereditary Optic Neuropathy

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Pages 2323-2325 | Received 22 Jan 2015, Accepted 15 Feb 2015, Published online: 22 May 2015

References

  • Borgione E, Lo Giudice M, Castello F, Musumeci SA, Di Blasi FD, Savio M, Elia M, et al. (2013). The 9-bp deletion in region V of mtDNA: A risk factor of hearing loss and encephalomyopathy in Caucasian populations? Neurol Sci 34:1223–6
  • Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC. (2005). MITOMAP: A human mitochondrial genome database – 2004 update. Nucleic Acids Res 33:611–13
  • Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, Sukernik RI, Wallace DC. (2002). The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup. J Hum Genet 110:130–8
  • Brown MD, Torroni A, Reckord CL, Wallace DC. (1995). Phylogenetic analysis of Leber’s hereditary optic neuropathy mitochondrial DNA’s indicates multiple independent occurrences of the common mutations. Hum Mutat 6:311–25
  • Darvishi K, Sharma S, Bhat AK, Rai E, Bamezai RN. (2007). Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer. Cancer Lett 249:249–55
  • DiMauro S, Schon EA. (2001). Mitochondrial DNA mutations in human disease. Am J Med Genet 106:18–26
  • Florentz C, Sohm B, Tryoen-Tóth P, Pütz J, Sissler M. (2003). Human mitochondrial tRNAs in health and disease. Cell Mol Life Sci 60:1356–75
  • Helm M, Brulé H, Friede D, Giegé R, Pütz D, Florentz C. (2000). Search for characteristic structural features of mammalian mitochondrial tRNAs. RNA 6:1356–79
  • Howell N. (1987). Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve. Vision Res 37:3495–507
  • Howell N. (2003). LHON and other optic nerve atrophies: The mitochondrial connection. Dev Ophthalmol 37:94–108
  • Howell N, Oostra RJ, Bolhuis PA, Spruijt L, Clarke LA, Mackey DA, Preston G, Herrnstadt C. (2003). Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 72:1460–9
  • Jin Y, Yu Q, Zhou D, Chen L, Huang X, Xu G, Huang J, et al. (2012). The mitochondrial DNA 9-bp deletion polymorphism is a risk factor for hepatocellular carcinoma in the Chinese population. Genet Test Mol Biomarkers 16:330–4
  • Johns DR, Berman J. (1991). Alternative, simultaneous complex I mitochondrial DNA mutations in Leber’s hereditary optic neuropathy. Biochem Biophys Res Commun 174:1324–30
  • Kokaze A, Ishikawa M, Matsunaga N, Karita K, Yoshida M, Ohtsu T, Ochiai H, et al. (2010). Combined effect of longevity-associated mitochondrial DNA 5178 C/A polymorphism and coffee consumption on the risk of hyper-LDL cholesterolemia in middle-aged Japanese men. J Hum Genet 55:577–81
  • Li R, Qu J, Zhou X, Tong Y, Hu Y, Qian Y, Lu F, et al. (2006). The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene 376:79–86
  • Liu CS, Cheng WL, Chen YY, Ma YS, Pang CY, Wei YH. (2005). High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. Ann N Y Acad Sci 1042:82–7
  • Mashima Y, Yamada K, Wakakura M, Kigasawa K, Kudoh J, Shimizu N, Oguchi Y. (1998). Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr Eye Res 17:403–8
  • Newman NJ. (1993). Leber’s hereditary optic neuropathy. Ophthalmol Clin North Am 4:431–47
  • Schon EA, DiMauro S, Hirano M. (2012). Human mitochondrial DNA: Roles of inherited and somatic mutations. Nat Rev Genet 13:878–90
  • Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ II, Nikoskelainen EK. (1988). Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 242:1427–30
  • Yao YG, Kong QP, Bandelt HJ, Kivisild T, Zhang YP. (2002). Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70:635–51
  • Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. (2011). A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat 32:1319–25
  • Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. (2010). Mitochondrial tRNA mutations and disease. Wiley Interdiscip Rev RNA 1:304–24
  • Zhang Y, Zhang JJ, Ji YC, Zhang ML, Tong Y, Zhao FX, Qu J, et al. (2011). The mitochondrial tRNA(Thr) A15951G mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:501–6 (in Chinese)
  • Zhou X, Wei Q, Yang L, Tong Y, Zhao F, Lu C, Qian Y, et al. (2006). Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families. Biochem Biophys Res Commun 340:69–75
  • Zhuo G, Feng G, Leng J, Yu L, Jiang Y. (2010). A 9-bp deletion homoplasmy in women with polycystic ovary syndrome revealed by mitochondrial genome-mutation screen. Biochem Genet 48:157–63

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