Table of Contents
ISRN Cardiology
Volume 2012, Article ID 251723, 6 pages
http://dx.doi.org/10.5402/2012/251723
Clinical Study

Novel m.15434C > A (p.230L > I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy

1Genetics Laboratory and Research Unit of Genetics Epidemiology and Molecular, Faculty of Medicine of Tunis, Tunis 1007, Tunisia
2Biochemistry Laboratory and Research Unit of Human Nutrition & Metabolic Disorders, Faculty of Medicine of Monastir, Monastir 5000, Tunisia
3Services des Explorations Fonctionnelles Cardiologiques, Hôpital La Rabta de Tunis, Tunisia
4Krankenanstalt Rudolfstiftung, Danube University Krems, Postfach 20, 1180 Vienna, Austria

Received 9 April 2012; Accepted 9 May 2012

Academic Editors: F. Boucher and I. Morano

Copyright © 2012 Sinda Zarrouk Mahjoub et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. T. Andrienko, A. V. Kuznetsov, T. Kaambre et al., “Metabolic consequences of functional complexes of mitochondria, myofibrils and sarcoplasmic reticulum in muscle cells,” Journal of Experimental Biology, vol. 206, no. 12, pp. 2059–2072, 2003. View at Publisher · View at Google Scholar · View at Scopus
  2. A. Brega, J. Narula, and E. Arbustini, “Functional, structural, and genetic mitochondrial abnormalities in myocardial diseases,” Journal of Nuclear Cardiology, vol. 8, no. 1, pp. 89–97, 2001. View at Publisher · View at Google Scholar · View at Scopus
  3. T. Obayashi, K. Hattori, S. Sugiyama et al., “Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy,” American Heart Journal, vol. 124, no. 5, pp. 1263–1269, 1992. View at Publisher · View at Google Scholar · View at Scopus
  4. E. Arbustini, M. Diegoli, R. Fasani et al., “Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy,” American Journal of Pathology, vol. 153, no. 5, pp. 1501–1510, 1998. View at Google Scholar · View at Scopus
  5. S. Anderson, A. T. Bankier, B. G. Barrell et al., “Sequence and organization of the human mitochondrial genome,” Nature, vol. 290, pp. 457–465, 1981. View at Google Scholar
  6. R. Moreno-Loshuertos, R. Acín-Pérez, P. Fernández-Silva et al., “Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants,” Nature Genetics, vol. 38, no. 11, pp. 1261–1268, 2006. View at Publisher · View at Google Scholar · View at Scopus
  7. D. C. Wallace, “Mitochondrial diseases in man and mouse,” Science, vol. 283, no. 5407, pp. 1482–1488, 1999. View at Publisher · View at Google Scholar · View at Scopus
  8. D. Mishmar, E. Ruiz-Pesini, P. Golik et al., “Natural selection shaped regional mtDNA variation in humans,” Proceedings of the National Academy of Sciences of the United States of America, vol. 100, no. 1, pp. 171–176, 2003. View at Publisher · View at Google Scholar · View at Scopus
  9. I. Valnot, J. Kassis, D. Chretien et al., “A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency,” Human Genetics, vol. 104, no. 6, pp. 460–466, 1999. View at Publisher · View at Google Scholar · View at Scopus
  10. A. L. Andreu, N. Checcarelli, S. Iwata, S. Shanske, and S. Dimauro, “A missense mutation in the mitochondrial cytochrome β gene in a revisited case with histiocytoid cardiomyopathy,” Pediatric Research, vol. 48, no. 3, pp. 311–314, 2000. View at Google Scholar · View at Scopus
  11. R. Dumoulin, I. Sagnol, T. Ferlin, D. Bozon, G. Stepien, and B. Mousson, “A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance,” Molecular and Cellular Probes, vol. 10, no. 5, pp. 389–391, 1996. View at Publisher · View at Google Scholar · View at Scopus
  12. A. L. Andreu, M. G. Hanna, H. Reichmann et al., “Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA,” The New England Journal of Medicine, vol. 341, no. 14, pp. 1037–1044, 1999. View at Publisher · View at Google Scholar · View at Scopus
  13. F. Legros, E. Chatzoglou, P. Frachon et al., “Functional characterization of novel mutations in the human cytochrome b gene,” European Journal of Human Genetics, vol. 9, no. 7, pp. 510–518, 2001. View at Publisher · View at Google Scholar · View at Scopus
  14. M. Schuelke, H. Krude, B. Finckh et al., “Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation,” Annals of Neurology, vol. 51, no. 3, pp. 388–392, 2002. View at Publisher · View at Google Scholar · View at Scopus
  15. B. L. Trumpower, “The protonmotive Q cycle. Energy transduction by coupling of proton translocation to electron transfer by the cytochrome bc1 complex,” The Journal of Biological Chemistry, vol. 265, no. 20, pp. 11409–11412, 1990. View at Google Scholar · View at Scopus
  16. P. Richardson, R. W. McKenna, M. Bristow et al., “Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies,” Circulation, vol. 93, no. 5, pp. 841–842, 1996. View at Google Scholar · View at Scopus
  17. R. M. Andrews, I. Kubacka, P. F. Chinnery, R. N. Lightowlers, D. M. Turnbull, and N. Howell, “Reanalysis and revision of the cambridge reference sequence for human mitochondrial DNA,” Nature Genetics, vol. 23, no. 2, article 147, 1999. View at Publisher · View at Google Scholar · View at Scopus
  18. I. A. Adzhubei, S. Schmidt, L. Peshkin et al., “A method and server for predicting damaging missense mutations,” Nature Methods, vol. 7, no. 4, pp. 248–249, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. E. Ruiz-Pesini, D. Mishmar, M. Brandon, V. Procaccio, and D. C. Wallace, “Effects of purifying and adaptive selection on regional variation in human mtDNA,” Science, vol. 303, no. 5655, pp. 223–226, 2004. View at Publisher · View at Google Scholar · View at Scopus
  20. L. Fan and Y. G. Yao, “MitoTool: a web server for the analysis and retrieval of human mitochondrial DNA sequence variations,” Mitochondrion, vol. 11, no. 2, pp. 351–356, 2011. View at Publisher · View at Google Scholar · View at Scopus
  21. M. van Oven and M. Kayser, “Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation,” Human Mutation, vol. 30, no. 2, pp. E386–E394, 2009. View at Publisher · View at Google Scholar · View at Scopus
  22. A. L. Andreu, C. Bruno, S. Shanske et al., “Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy,” Neurology, vol. 51, no. 5, pp. 1444–1447, 1998. View at Google Scholar · View at Scopus
  23. A. L. Andreu, C. Bruno, T. C. Dunne et al., “A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria,” Annals of Neurology, vol. 45, pp. 123–130, 1999. View at Google Scholar
  24. Y. Y. Li, B. Maisch, M. L. Rose, and C. Hengstenberg, “Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy,” Journal of Molecular and Cellular Cardiology, vol. 29, no. 10, pp. 2699–2709, 1997. View at Publisher · View at Google Scholar · View at Scopus
  25. K. B. Beckman and B. N. Ames, “Oxidative decay of DNA,” The Journal of Biological Chemistry, vol. 272, no. 32, pp. 19633–19636, 1997. View at Publisher · View at Google Scholar · View at Scopus
  26. J. Cadet, T. Douki, D. Gasparutto, and J. L. Ravanat, “Oxidative damage to DNA: formation, measurement and biochemical features,” Mutation Research, vol. 531, no. 1-2, pp. 5–23, 2003. View at Publisher · View at Google Scholar · View at Scopus
  27. N. Fisher and B. Meunier, “Effects of mutations in mitochondrial cytochrome b in yeast and man: deficiency, compensation and disease,” European Journal of Biochemistry, vol. 268, no. 5, pp. 1155–1162, 2001. View at Publisher · View at Google Scholar · View at Scopus
  28. M. Ingman, “mtDB polymorphism database,” Uppsala University, Uppsala, Sweden, 2011, http://www.mtdb.igp.uu.se/.