The roles of mitochondrial tRNA mutations in non-dystrophic myotonias

References

• Brown MD, Torroni A, Shoffner JM, Wallace DC. 1992. Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy. Am J Hum Genet. 51(2):446–447.
   PubMed Web of Science ®Google Scholar
• Chatterjee A, Dasgupta S, Sidransky D. 2011. Mitochondrial subversion in cancer. Cancer Prev Res (Phila)). 4(5):638–654.
   PubMed Web of Science ®Google Scholar
• Chinnery PF, Hudson G. 2013. Mitochondrial genetics. Br Med Bull. 106(1):135–159.
   PubMed Web of Science ®Google Scholar
• Covarrubias D, Bai RK, Wong LC, Leal SM. 2008. Mitochondrial DNA variant interactions modify breast cancer risk. J Hum Genet. 53(10):924–928.
   PubMed Web of Science ®Google Scholar
• Ding Y, Huang J. 2016. Is mitochondrial tRNA(Ser(UCN)) T7501C mutation associated with cardiovascular disease? Mitochondrial DNA A DNA Mapp Seq Anal. 27(1):205–208.
   PubMedGoogle Scholar
• Finnila S, Hassinen IE, Majamaa K. 2001. Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region. Mutat Res. 458(1–2):31–39.
   PubMedGoogle Scholar
• Florentz C, Sohm B, Tryoen-Toth P, Putz J, Sissler M. 2003. Human mitochondrial tRNAs in health and disease. Cell Mol Life Sci. 60(7):1356–1375.
   PubMed Web of Science ®Google Scholar
• Fox TD. 2012. Mitochondrial protein synthesis, import, and assembly. Genetics. 192(4):1203–1234.
   PubMed Web of Science ®Google Scholar
• Heidari MM, Keshmirshekan A, Bidakhavidi M, Khosravi A, Bandari Z, Khatami M, Nafissi S. 2020. A novel heteroplasmic mutation in mitochondrial tRNAArg gene associated with non-dystrophic myotonias. Acta Neurol Belg. 120(3):573–580.
   PubMed Web of Science ®Google Scholar
• Jacobs HT, Hutchin TP, Käppi T, Gillies G, Minkkinen K, Walker J, Thompson K, Rovio AT, Carella M, Melchionda S, et al. 2005. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet. 13(1):26–33.
   PubMed Web of Science ®Google Scholar
• Jiang Z, Yu J, Xia B, Zhuo G. 2016. Mitochondrial tRNAThr 15891C > G mutation was not associated with Leber’s hereditary optic neuropathy in Han Chinese patients. Mitochondrial DNA A DNA Mapp Seq Anal. 27(2):1564–1566.
   PubMedGoogle Scholar
• Levin L, Zhidkov I, Gurman Y, Hawlena H, Mishmar D. 2013. Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease. Genome Biol Evol. 5(5):876–890.
   PubMed Web of Science ®Google Scholar
• Lott MT, Leipzig JN, Derbeneva O, Xie HM, Chalkia D, Sarmady M, Procaccio V, Wallace DC. 2013. mtDNA variation and analysis using mitomap and mitomaster. Curr Protoc Bioinformatics. 44(123):1.23–1.26.
   Google Scholar
• Mayr-Wohlfart U, Paulus C, Henneberg A, Rödel G. 1996. Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement. Acta Neurol Scand. 94(3):167–171.
   PubMed Web of Science ®Google Scholar
• Mayr-Wohlfart U, Rödel G, Henneberg A. 1997. Mitochondrial tRNA(Gln) and tRNA(Thr) gene variants in Parkinson’s disease. Eur J Med Res. 2(3):111–113.
   PubMedGoogle Scholar
• McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. 2004. Assigning pathogenicity to mitochondrial tRNA mutations: when “definitely maybe” is not good enough. Trends Genet. 20(12):591–596.
   PubMed Web of Science ®Google Scholar
• Morales F, Pusch M. 2019. An up-to-date overview of the complexity of genotype-phenotype relationships in myotonic channelopathies. Front Neurol. 10:1404.
   PubMed Web of Science ®Google Scholar
• Pulkes T, Sweeney MG, Hanna MG. 2000. Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. Lancet. 356 (9247):2068–2069.
   PubMed Web of Science ®Google Scholar
• Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC. 2007. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res. 35(Database issue):D823–828.
   PubMed Web of Science ®Google Scholar
• Servidei S. 2003. Mitochondrial encephalomyopathies:gene mutation. Neuromuscul Disord. 13(10):848–853.
   PubMedGoogle Scholar
• Simon DK, Mayeux R, Marder K, Kowall NW, Beal MF, Johns DR. 2000. Mitochondrial DNA mutations in Complex I and tRNA genes in Parkinson’s disease. Neurology. 54(3):703–709.
   PubMed Web of Science ®Google Scholar
• Snyder Y, Donlin-Smith C, Snyder E, Pressman E, Ciafaloni E. 2015. The course and outcome of pregnancy in women with nondystrophic myotonias. Muscle Nerve. 52(6):1013–1015.
   PubMed Web of Science ®Google Scholar
• Suzuki T, Nagao A, Suzuki T. 2011. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases. Annu Rev Genet. 45:299–329.
   PubMed Web of Science ®Google Scholar
• Taylor SW, Fahy E, Ghosh SS. 2003. Global organellar proteomics. Trends Biotechnol. 21(2):82–88.
   PubMed Web of Science ®Google Scholar
• Uusimaa J, Finnilä S, Remes AM, Rantala H, Vainionpää L, Hassinen IE, Majamaa K. 2004. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. Pediatrics. 114(2):443–450.
   PubMed Web of Science ®Google Scholar
• van den Ouweland JM, Bruining GJ, Lindhout D, Wit JM, Veldhuyzen BF, Maassen JA. 1992. Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. Nucleic Acids Res. 20(4):679–682.
   PubMed Web of Science ®Google Scholar
• Wang Y, Dong P, Li L, Li X, Wang H, Yang X, Wang S, Li Z, Shang X. 2014. The mitochondrial tRNA(Met) 4454T > C variant may not be associated with essential hypertension in Han Chinese population. Mitochondrial DNA. 25(2):124–125.
   PubMed Web of Science ®Google Scholar
• 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(11):1319–1325.
   PubMed Web of Science ®Google Scholar
• Yoon KL, Aprille JR, Ernst SG. 1991. Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency. Biochem Biophys Res Commun. 176(3):1112–1115.
   PubMed Web of Science ®Google Scholar
• Zhu HY, Wang SW, Liu L, Chen R, Wang L, Gong XL, Zhang ML. 2009. Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population. Clin Chim Acta. 410(1–2):64–69.
   PubMed Web of Science ®Google Scholar
• Zhu Q, Zhou Y, Jin X, Lin X. 2015. The role of mitochondrial tRNAPhe C628T variant in deafness expression. Mitochondrial DNA. 26(1):2–6.
   PubMed Web of Science ®Google Scholar
• Zifa E, Theotokis P, Kaminari A, Maridaki H, Leze H, Petsiava E, Mamuris Z, Stathopoulos C. 2008. A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations. Mitochondrion. 8(3):229–236.
   PubMed Web of Science ®Google Scholar