Legal Medicine
Volume 12, Issue 6 , Pages 280-283 , November 2010

Analysis of the sarcomere protein gene mutation on cardiomyopathy – Mutations in the cardiac troponin I gene

Received 24 February 2010 ,Revised 16 July 2010 ,Accepted 26 July 2010.

References 

  1. Rodriguez-Calvo MS, Brion M, Allegue C, Concheiro L, Carracedo A. Molecular genetics of sudden cardiac death. Forensic Sci Int. 2008;182:1–12
  2. Madea B. Sudden death, especially in infancy – improvement of diagnosis by biochemistry, immunohistochemistry and molecular pathology. Legal Med. 2009;11:S36–S42
  3. Nishio H, Iwata M, Tamura A, Miyazaki T, Tsuboi K, Suzuki K. Identification of a novel mutation of V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations. Legal Med. 2008;10:196–200
  4. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O’Connell J. 1995 World Health Organization/International Society and Federation of Cardiology task force on the definition and classification of cardiomyopathies. Circulation. 1996;93:841–842
  5. Marian AJ, Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2001;33:655–670
  6. Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997;16:379–382
  7. Kimura A, Ito-Satoh M, Hayashi T, Takahashi M, Arimura T. Molecular etiology of idiopathic cardiomyopathy in Asian populations. J Cardiol. 2001;37(Suppl. 1):139–146
  8. Fatkin D, Graham RM. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev. 2002;82:945–980
  9. Takeda S, Yamashita A, Maeda K, Maeda Y. Structure of the core domain of human cardiac troponin in the Ca2+-saturated form. Nature. 2003;424:35–41
  10. Vallins WJ, Brand NJ, Dabhade N, Butler-Browne G, Yacoub MH, Barton PJR. Molecular cloning of human cardiac troponin I using polymerase chain reaction. FEBS Lett. 1990;270:57–61
  11. Zhang R, Zhao J, Mandveno A, Potter JD. Cardiac troponin I phosphorylation increases the rate of cardiac muscle relaxation. Circ Res. 1995;76:1028–1035
  12. Elliott K, Watkins H, Redwood CS. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J Biol Chem. 2000;275:22069–22074
  13. Takahashi-Yanaga F, Morimoto S, Harada K, Minakami R, Shiraishi F, Ohta M. Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2001;33:2095–2107
  14. MaKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cariomyopathies of the International Society and Federation of Cardiology. Br Heart J. 1994;71:215–218
  15. Shimizu M, Ino H, Yasuda T, Fujino N, Uchiyama K, Mabuchi T. Gene mutations in adult Japanese patients with dilated cardiomyopathy. Circ J. 2005;69:150–153
  16. Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, Mckenna WJ. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet. 2004;363:371–372
  17. Morimoto S, Lu Q-W, Harada K, Takahashi-Yanaga F, Minakami R, Ohta M, et al. Ca2+-desensitizing effect of a deletion mutation Δk210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci USA. 2002;99:913–918
  18. Kobayashi T, Solaro RJ. Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. J Biol Chem. 2006;281:13471–13477
  19. Biesiadecki BJ, Kobayashi T, Walker JS, Solaro RJ, de Tombe PP. The troponin C G159D mutation blunts myofilament desensitization induced by troponin I Ser23/24 phosphorylation. Circ Res. 2007;100:1486–1493
  20. Tao T, Gong BJ, Leavis PC. Calcium-induced movement of troponin-I relative to actin in skeletal muscle thin filaments. Science. 1990;247:1339–1341
  21. Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY. Gene mutations in apical hypertrophic cardiomyopathy. Circulation. 2005;112:2805–2811
  22. Malhotra A, Nakouzi A, Bowman J, Buttrick P. Expression and regulation of mutant forms of cardiac TnI in a reconstituted actomyosin system: role of kinase dependent phosphorylation. Mol Cell Biochem. 1997;170:99–107
  23. Robberson BL, Cote GJ, Berget SM. Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol. 1990;10:84–94
  24. Sterner DA, Berget SM. In vivo recognition of a vertebrate mini-exon as an exon–intron–exon unit. Mol Cell Biol. 1993;13:2677–2687

PII: S1344-6223(10)00113-6

doi: 10.1016/j.legalmed.2010.07.002

Legal Medicine
Volume 12, Issue 6 , Pages 280-283 , November 2010