A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 (original) (raw)

References

  1. Antonellis, A. & Green, E. D. The role of aminoacyl-tRNA synthetases in genetic diseases. Annu. Rev. Genomics Hum. Genet. 9, 87–107 (2008).
    Article CAS Google Scholar
  2. Stenson, P. D., Mort, M., Ball, E. V., Shaw, K., Phillips, A. D. & Cooper, D. N. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet. (e-pub ahead of print 28 Sep 2013; doi: 10.1007/s00439-013-1358-4).
    Article Google Scholar
  3. Scheper, G. C., van der Klok, T., van Andel, R. J., van Berkel, C. G., Sissler, M., Smet, J. et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat. Genet. 39, 534–539 (2007).
    Article CAS Google Scholar
  4. Edvardson, S., Shaag, A., Kolesnikova, O., Gomori, J. M., Tarassov, I., Einbinder, T. et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am. J. Hum. Genet. 81, 857–862 (2007).
    Article CAS Google Scholar
  5. Gotz, A., Tyynismaa, H., Euro, L., Ellonen, P., Hyotylainen, T., Ojala, T. et al. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am. J. Hum. Genet. 88, 635–642 (2011).
    Article CAS Google Scholar
  6. Elo, J. M., Yadavalli, S. S., Euro, L., Isohanni, P., Gotz, A., Carroll, C. J. et al. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum. Mol. Genet. 21, 4521–4529 (2012).
    Article CAS Google Scholar
  7. DiMauro, S. & Schon, E. A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348, 2656–2668 (2003).
    Article CAS Google Scholar
  8. Sasarman, F., Nishimura, T., Thiffault, I. & Shoubridge, E. A. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. Hum. Mutat. 33, 1201–1206 (2012).
    Article CAS Google Scholar
  9. Riley, L. G., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A. et al. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome. Am. J. Hum. Genet. 87, 52–59 (2010).
    Article CAS Google Scholar
  10. Shahni, R., Wedatilake, Y., Cleary, M. A., Lindley, K. J., Sibson, K. R. & Rahman, S. A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. Am. J. Med. Genet. A 161, 2334–2338 (2013).
    Article CAS Google Scholar
  11. Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248–249 (2010).
    Article CAS Google Scholar
  12. Schwarz, J. M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575–576 (2010).
    Article CAS Google Scholar
  13. Seelow, D., Schuelke, M., Hildebrandt, F. & Nurnberg, P. HomozygosityMapper—an interactive approach to homozygosity mapping. Nucleic Acids Res. 37, W593–599 (2009).
    Article CAS Google Scholar
  14. Inbal, A., Avissar, N., Shaklai, M., Kuritzky, A., Schejter, A., Ben-David, E. et al. Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. Am. J. Med. Genet. 55, 372–378 (1995).
    Article CAS Google Scholar
  15. Bonnefond, L., Fender, A., Rudinger-Thirion, J., Giege, R., Florentz, C. & Sissler, M. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. Biochemistry 44, 4805–4816 (2005).
    Article CAS Google Scholar
  16. Yaremchuk, A., Kriklivyi, I., Tukalo, M. & Cusack, S. Class I tyrosyl-tRNA synthetase has a class II mode of cognate tRNA recognition. EMBO J. 21, 3829–3840 (2002).
    Article CAS Google Scholar
  17. Guijarro, J. I., Pintar, A., Prochnicka-Chalufour, A., Guez, V., Gilquin, B., Bedouelle, H. et al. Structure and dynamics of the anticodon arm binding domain of Bacillus stearothermophilus Tyrosyl-tRNA synthetase. Structure 10, 311–317 (2002).
    Article CAS Google Scholar
  18. Grantham, R. Amino acid difference formula to help explain protein evolution. Science 185, 862–864 (1974).
    Article CAS Google Scholar
  19. Tucker, E. J., Compton, A. G. & Thorburn, D. R. Recent advances in the genetics of mitochondrial encephalopathies. Curr. Neurol. Neurosci. Rep. 10, 277–285 (2010).
    Article CAS Google Scholar
  20. Bernier, F. P., Boneh, A., Dennett, X., Chow, C. W., Cleary, M. A. & Thorburn, D. R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59, 1406–1411 (2002).
    Article CAS Google Scholar

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