About this Journal Submit a Manuscript Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 201372, 6 pages
http://dx.doi.org/10.1155/2013/201372
Research Article

TNNT2 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in the Han Chinese Population

1Cardiac Arrhythmia Center, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China
2The Center of Heart Development, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Science, Hunan Normal University, Changsha, Hunan 410081, China
3Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu University, Zhenjiang 212000, China
4Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics, Ministry of Education, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China

Received 27 September 2012; Accepted 11 January 2013

Academic Editor: Yasemin Alanay

Copyright © 2013 Xiaoping Li 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. B. J. Maron, J. A. Towbin, G. Thiene et al., “Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention,” Circulation, vol. 113, no. 14, pp. 1807–1816, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. J. A. Towbin and N. E. Bowles, “The failing heart,” Nature, vol. 415, no. 6868, pp. 227–233, 2002. View at Publisher · View at Google Scholar · View at Scopus
  3. W. M. Franz, O. J. Müller, and H. A. Katus, “Cardiomyopathies: from genetics to the prospect of treatment,” Lancet, vol. 358, no. 9293, pp. 1627–1637, 2001. View at Publisher · View at Google Scholar · View at Scopus
  4. J. Schönberger and C. E. Seidman, “Many roads lead to a broken heart: the genetics of dilated cardiomyopathy,” American Journal of Human Genetics, vol. 69, no. 2, pp. 249–260, 2001. View at Publisher · View at Google Scholar · View at Scopus
  5. J. G. Seidman and C. Seidman, “The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms,” Cell, vol. 104, no. 4, pp. 557–567, 2001. View at Publisher · View at Google Scholar · View at Scopus
  6. V. V. Michels, P. P. Moll, F. A. Miller et al., “The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy,” New England Journal of Medicine, vol. 326, no. 2, pp. 77–82, 1991. View at Scopus
  7. E. L. Burkett and R. E. Hershberger, “Clinical and genetic issues in familial dilated cardiomyopathy,” Journal of the American College of Cardiology, vol. 45, no. 7, pp. 969–981, 2005. View at Publisher · View at Google Scholar · View at Scopus
  8. L. Mestroni, C. Rocco, D. Gregori et al., “Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity,” Journal of the American College of Cardiology, vol. 34, no. 1, pp. 181–190, 1999. View at Publisher · View at Google Scholar · View at Scopus
  9. T. M. Olson, V. V. Michels, S. N. Thibodeau, Y. S. Tai, and M. T. Keating, “Actin mutations in dilated cardiomyopathy, a heritable form of heart failure,” Science, vol. 280, no. 5364, pp. 750–752, 1998. View at Publisher · View at Google Scholar · View at Scopus
  10. M. Kamisago, S. D. Sharma, S. R. DePalma et al., “Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy,” New England Journal of Medicine, vol. 343, no. 23, pp. 1688–1696, 2000. View at Publisher · View at Google Scholar · View at Scopus
  11. M. Shimizu, H. Ino, T. Yasuda et al., “Gene mutations in adult Japanese patients with dilated cardiomyopathy,” Circulation Journal, vol. 69, no. 2, pp. 150–153, 2005. View at Publisher · View at Google Scholar · View at Scopus
  12. B. Gerull, M. Gramlich, J. Atherton et al., “Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy,” Nature Genetics, vol. 30, no. 2, pp. 201–204, 2002. View at Publisher · View at Google Scholar · View at Scopus
  13. T. M. Olson, N. Y. Kishimoto, F. G. Whitby, and V. V. Michels, “Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy,” Journal of Molecular and Cellular Cardiology, vol. 33, no. 4, pp. 723–732, 2001. View at Publisher · View at Google Scholar · View at Scopus
  14. D. Li, G. Z. Czernuszewicz, O. Gonzalez et al., “Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy,” Circulation, vol. 104, no. 18, pp. 2188–2193, 2001. View at Scopus
  15. J. Mogensen, R. T. Murphy, T. Shaw et al., “Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy,” Journal of the American College of Cardiology, vol. 44, no. 10, pp. 2033–2040, 2004. View at Publisher · View at Google Scholar · View at Scopus
  16. A. V. Gomes, J. A. Barnes, K. Harada, and J. D. Potter, “Role of troponin T in disease,” Molecular and Cellular Biochemistry, vol. 263, no. 1, pp. 115–129, 2004. View at Publisher · View at Google Scholar · View at Scopus
  17. J. Mogensen, T. Kubo, M. Duque et al., “Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations,” Journal of Clinical Investigation, vol. 111, no. 2, pp. 209–216, 2003. View at Publisher · View at Google Scholar · View at Scopus
  18. L. Thierfelder, H. Watkins, C. MacRae et al., “α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere,” Cell, vol. 77, no. 5, pp. 701–712, 1994. View at Publisher · View at Google Scholar · View at Scopus
  19. P. J. Townsend, H. Farza, C. MacGeoch et al., “Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q,” Genomics, vol. 21, no. 2, pp. 311–316, 1994. View at Publisher · View at Google Scholar · View at Scopus
  20. T. Palm, S. Graboski, S. E. Hitchcock-DeGregori, and N. J. Greenfield, “Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region,” Biophysical Journal, vol. 81, no. 5, pp. 2827–2837, 2001. View at Scopus
  21. M. García-Castro, J. R. Reguero, A. Batalla et al., “Hypertrophic cardiomyopathy: low frequency of mutations in the β-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients,” Clinical Chemistry, vol. 49, no. 8, pp. 1279–1285, 2003. View at Publisher · View at Google Scholar · View at Scopus
  22. A. J. Sehnert, A. Huq, B. M. Weinstein, C. Walker, M. Fishman, and D. Y. R. Stainier, “Cardiac troponin T is essential in sarcomere assembly and cardiac contractility,” Nature Genetics, vol. 31, no. 1, pp. 106–110, 2002. View at Publisher · View at Google Scholar · View at Scopus
  23. A. N. Chang, M. S. Parvatiyar, and J. D. Potter, “Troponin and cardiomyopathy,” Biochemical and Biophysical Research Communications, vol. 369, no. 1, pp. 74–81, 2008. View at Publisher · View at Google Scholar · View at Scopus
  24. R. E. Hershberger, J. R. Pinto, S. B. Parks et al., “Clinical and functional Characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy,” Circulation, vol. 2, no. 4, pp. 306–313, 2009. View at Publisher · View at Google Scholar · View at Scopus
  25. E. Villard, C. Perret, F. Gary, C. Proust, G. Dilanian, and C. Hengstenberg, “A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy,” European Heart Journal, vol. 32, pp. 1065–1076, 2011.
  26. K. Stark, U. B. Esslinger, W. Reinhard et al., “Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy,” PLoS Genetics, vol. 6, no. 10, Article ID e1001167, 2010. View at Scopus
  27. E. Schaeffeler, U. M. Zanger, M. Eichelbaum, S. Asante-Poku, J. G. Shin, and M. Schwab, “Highly multiplexed genotyping of thiopurine S-methyltransferase variants using MALDI-TOF mass spectrometry: reliable genotyping in different ethnic groups,” Clinical Chemistry, vol. 54, no. 10, pp. 1637–1647, 2008. View at Publisher · View at Google Scholar · View at Scopus
  28. L. Dellefave and E. M. McNally, “The genetics of dilated cardiomyopathy,” Current Opinion in Cardiology, vol. 25, no. 3, pp. 198–204, 2010. View at Publisher · View at Google Scholar · View at Scopus
  29. J. D. Potter, Z. Sheng, B. S. Pan, and J. Zhao, “A direct regulatory role for troponin T and a dual role for troponin C in the Ca2+ regulation of muscle contraction,” Journal of Biological Chemistry, vol. 270, no. 6, pp. 2557–2562, 1995. View at Publisher · View at Google Scholar · View at Scopus
  30. S. Morimoto, Q. W. Lu, K. Harada et al., “Ca2+-desensitizing effect of a deletion mutation ΔK210 in cardiac troponin T that causes familial dilated cardiomyopathy,” Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 2, pp. 913–918, 2002. View at Publisher · View at Google Scholar · View at Scopus
  31. P. Robinson, M. Mirza, A. Knott et al., “Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy,” Journal of Biological Chemistry, vol. 277, no. 43, pp. 40710–40716, 2002. View at Publisher · View at Google Scholar · View at Scopus
  32. E. Ho, R. Bhindi, E. A. Ashley, and G. A. Figtree, “Genetic analysis in cardiovascular disease: a clinical perspective,” Cardiology in Review, vol. 19, no. 2, pp. 81–89, 2011.
  33. K. Komamura, N. Iwai, K. Kokame et al., “The role of a common TNNT2 polymorphism in cardiac hypertrophy,” Journal of Human Genetics, vol. 49, no. 3, pp. 129–133, 2004. View at Publisher · View at Google Scholar · View at Scopus
  34. L. Mesnard-Rouiller, J. J. Mercadier, G. Butler-Browne et al., “Troponin T mRNA and protein isoforms in the human left ventricle: pattern of expression in failing and control hearts,” Journal of Molecular and Cellular Cardiology, vol. 29, no. 11, pp. 3043–3055, 1997. View at Publisher · View at Google Scholar · View at Scopus