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Mitochondrial DNA
The Journal of DNA Mapping, Sequencing, and Analysis
Volume 23, 2012 - Issue 4
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Short Communication

Is mitochondrial tRNALeu(UUR) 3291T>C mutation pathogenic?

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Pages 323-326 | Received 28 Dec 2011, Accepted 06 Mar 2012, Published online: 03 Apr 2012

References

  • 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. 33:611–613.
  • Freyhult E, Gardner PP, Moulton V. 2005. A comparison of RNA folding measures. BMC Bioinformatics. 6:241.
  • Goto Y, Tsugane K, Tanabe Y, Nonaka I, Horai S. 1994. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNALeu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun. 202:1624–1630.
  • Gruber AR, Lorenz R, Bernhart SH, Neuböck R, Hofacker IL. 2008. The Vienna RNA websuite. Nucleic Acids Res. 36:W70–W74.
  • Park CB, Larsson NG. 2011. Mitochondrial DNA mutations in disease and aging. J Cell Biol. 5:809–818.
  • Salsano E, Giovagnoli AR, Morandi L, Maccagnano C, Lamantea E, Marchesi C, Zeviani M, Pareyson D. 2011. Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation. J Neurol Sci. 300:165–168.
  • Schon EA, Bonilla E, DiMauro S. 1997. Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr. 29:131–149.
  • Sunami Y, Sugaya K, Chihara N, Goto Y, Matsubara S. 2011. Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T>C mutation in mitochondrial DNA. Neurol Sci. 32:861–864.
  • Uziel G, Carrara F, Granata T, Lamantea E, Mora M, Zeviani M. 2000. Neuromuscular syndrome associated with the 3291T>C mutation of mitochondrial DNA: A second case. Neuromuscul Disord. 10:415–418.
  • Woischnik M, Moraes CT. 2002. Pattern of organization of human mitochondrial pseudogenes in the nuclear genome. Genome Res. 12:885–893.
  • Yao YG, Kong QP, Salas A, Bandelt HJ. 2008. Pseudomitochondrial genome haunts disease studies. J Med Genet. 45:769–772.
  • 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. 32:1319–1325.
  • Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. 2010. Mitochondrial tRNA mutations and disease. Wiley Interdiscip Rev RNA. 2:304–324.
  • Zuker M, Stiegler P. 1981. Optimal computer folding of large RNA sequences using thermodynamics and auxiliary information. Nucleic Acids Res. 9:133–148.

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