Neuromuscular Disorders
Volume 18, Issue 1 , Pages 63-67 , January 2008

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

  • Robert McFarland

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 191 222 8334; fax: +44 191 222 8553.
    • ,
  • Helen Swalwell

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • ,
  • Emma L. Blakely

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • ,
  • Langping He

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • ,
  • Emma J. Groen

      Affiliations

    • Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    • ,
  • Douglass M. Turnbull

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    • ,
  • Kate M. Bushby

      Affiliations

    • Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    • ,
  • Robert W. Taylor

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK

Received 20 March 2007 ,Revised 2 July 2007 ,Accepted 16 July 2007.

References 

  1. Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2005;6:389–402
  2. Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med. 1999;341:1037–1044
  3. Swalwell H, Deschauer M, Hartl H, et al. Pure myopathy associated with a novel mitochondrial tRNA gene mutation. Neurology. 2006;66:447–449
  4. Mancuso M, Salviati L, Sacconi S, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology. 2002;59:1197–1202
  5. Hadjigeorgiou GM, Kim SH, Fischbeck KH, et al. A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy. J Neurol Sci. 1999;164:153–157
  6. Kirby DM, Thorburn DR, Turnbull DM, et al. Biochemical assays of respiratory chain complex activity. Methods Cell Biol. 2007;80:93–119
  7. Andrews RM, Kubacka I, Chinnery PF, et al. Reanalysis and revision of the Cambridge Reference Sequence. Nat Genet. 1999;23:147
  8. Finnila S, Tuisku S, Herva R, et al. A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL. J Mol Med. 2001;79:641–647
  9. Annunen-Rasila J, Finnila S, Mykkanen K, et al. Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. Neurogenetics. 2006;7:185–194
  10. Kiyomoto BH, Tengan CH, Costa CK, et al. Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients. J Neurol Neurosurg Psychiatry. 2006;77:541–543
  11. Olsen DB, Langkilde AR, Orngreen MC, et al. Muscle structural changes in mitochondrial myopathy relate to genotype. J Neurol. 2003;250:1328–1334
  12. Park SJ, Schimmel P. Evidence for interaction of an aminoacyl transfer RNA synthetase with a region important for the identity of its cognate transfer RNA. J Biol Chem. 1988;263:16527–16530
  13. Ingman M, Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res. 2006;34:D749–D751
  14. Brandon MC, Lott MT, Nguyen KC, et al. MITOMAP: a human mitochondrial genome database – 2004 update. Nucleic Acids Res. 2005;33:D611–D613

PII: S0960-8966(07)00680-3

doi: 10.1016/j.nmd.2007.07.007

Neuromuscular Disorders
Volume 18, Issue 1 , Pages 63-67 , January 2008

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