Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca2+ binding and myofilament contractility

Physiological Genomics

Volumn 33, Issue 2, 2008, Pages 257-266

  Liang, Bo ^a,b   Chung, Franca ^a,b   Qu, Yang ^a,b   Pavlov, Dmitri ^a,b   Gillis, Todd E ^c   Tikunova, Svetlana B ^d   Davis, Jonathan P ^d   Tibbits, Glen F ^a,b  

^a SIMON FRASER UNIVERSITY   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY OF GUELPH   (Canada)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

Cardiac thin filament; Myocardial contractility

Indexed keywords

CALCIUM ION; PHENYLALANINE; TROPONIN C; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BINDING AFFINITY; BINDING SITE; CALCIUM BINDING; CALCIUM TRANSPORT; CONTROLLED STUDY; DISSOCIATION; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; FORCE; HEART MUSCLE CELL; HEART MUSCLE CONTRACTILITY; MOUSE; MUTANT; MUTATION; MYOFILAMENT; NONHUMAN; PRIORITY JOURNAL; SARCOMERE LENGTH;

ANIMALS; BIOMECHANICS; CALCIUM; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CATTLE; FEMALE; GLUTAMINE; KINETICS; LEUCINE; MICE; MICE, INBRED C57BL; MICROFILAMENTS; MUTANT PROTEINS; MUTATION; MYOCARDIAL CONTRACTION; SARCOMERES; TROPONIN C;

MAMMALIA;

EID: 43049104563     PISSN: 10948341     EISSN: 15312267     Source Type: Journal    
DOI: 10.1152/physiolgenomics.00154.2007     Document Type: Article

References (47)

1. Abbott MB, Dong WJ, Dvoretsky A, DaGue B, Caprioli RM, Cheung HC, Rosevear PR. Modulation of cardiac troponin C-cardiac troponin I regulatory interactions by the amino-terminus of cardiac troponin I. Biochemistry 40: 5992-6001, 2001.
2. Ahmad F, Seidman JG, Seidman CE. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet 6: 185-216, 2005.
3. Ashrafian H, Redwood C, Blair E, Watkins H. Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion. Trends Genet 19: 263-268, 2003.
4. Baryshnikova OK, Li MX, Sykes BD. Modulation of cardiac troponin C function by the cardiac-specific N-terminus of troponin I: influence of PKA phosphorylation and involvement in cardiomyopathies. J Mol Biol 375: 735-751, 2008.
5. Biesiadecki BJ, Chong SM, Nosek TM, Jin JP. Troponin T core structure and the regulatory NH2-terminal variable region. Biochemistry 46: 1368-1379, 2007.
6. Blumenschein TM, Gillis TE, Tibbits GF, Sykes BD. Effect of temperature on the structure of trout troponin C. Biochemistry 43: 4955-4963, 2004.
7. Brotto MA, Biesiadecki BJ, Brotto LS, Nosek TM, Jin JP. Coupled expression of troponin T and troponin I isoforms in single skeletal muscle fibers correlates with contractility. Am J Physiol Cell Physiol 290: C567-C576, 2006.
8. Chang AN, Harada K, Ackerman MJ, Potter JD. Functional consequences of hypertrophic and dilated cardiomyopathy-causing mutations in alpha-tropomyosin. J Biol Chem 280: 34343-34349, 2005.
9. 2+ sensitivity of cardiac myofibrils: a comparison of trout with mammals. Am J Physiol Regul Integr Comp Physiol 267: R62-R70, 1994.
10. Davis JP, Tikunova SB, Walsh MP, Johnson JD. Characterizing the response of calcium signal transducers to generated calcium transients. Biochemistry 38: 4235-4244, 1999.
11. Dong WJ, Xing J, Ouyang Y, An J, Cheung HC. Structural kinetics of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes. J Biol Chem 283: 3424-3432, 2008.
12. Dong WJ, Xing J, Villain M, Hellinger M, Robinson JM, Chandra M, Solaro RJ, Umeda PK, Cheung HC. Conformation of the regulatory domain of cardiac muscle troponin C in its complex with cardiac troponin I. J Biol Chem 274: 31382-31390, 1999.
13. Finley N, Abbott MB, Abusamhadneh E, Gaponenko V, Dong W, Gasmi-Seabrook G, Howarth JW, Rance M, Solaro RJ, Cheung HC, Rosevear PR. NMR analysis of cardiac troponin C-troponin I complexes: effects of phosphorylation. FEBS Lett 453: 107-112, 1999.
14. 2+ activation in cardiac muscle: some remaining questions. J Muscle Res Cell Motil 26: 199-212, 2005.
15. Gillis TE, Liang B, Chung F, Tibbits GF. Increasing mammalian cardiomyocyte contractility with residues identified in trout troponin C. Physiol Genomics 22: 1-7, 2005.
16. 2+ binding to cardiac troponin C: effects of temperature and pH on mammalian and salmonid isoforms. Am J Physiol Regul Integr Comp Physiol 279: R1707-R1715, 2000.
17. 2+ affinity of site II. Am J Physiol Cell Physiol 284: C1176-C1184, 2003.
18. Gillis TE, Tibbits GF. Beating the cold: the functional evolution of troponin C in teleost fish. Comp Biochem Physiol A Mol Integr Physiol 132: 763-772, 2002.
19. Gomes AV, Potter JD. Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene. Mol Cell Biochem 263: 99-114, 2004.
20. Gomes AV, Potter JD. Molecular and cellular aspects of troponin cardiomyopathies. Ann NY Acad Sci 1015: 214-224, 2004.
21. Gordon AM, Homsher E, Regnier M. Regulation of contraction in striated muscle. Physiol Rev 80: 853-924, 2000.
22. 2+-sensitive force of mammalian skeletal and cardiac muscles. J Physiol 441: 305-324, 1991.
23. 2+ sensitivity of cardiac muscle contraction. J Biol Chem 279: 14488-14495, 2004.
24. Hoffmann B, Schmidt-Traub H, Perrot A, Osterziel KJ, Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat 17: 524, 2001.
25. Hofmann PA, Fuchs F. Bound calcium and force development in skinned cardiac muscle bundles: effect of sarcomere length. J Mol Cell Cardiol 20: 667-677, 1988.
26. 2+ binding to cardiac troponin C. Am J Physiol Cell Physiol 253: C90-C96, 1987.
27. 2+ exchange activity in neonatal rabbit ventricular myocytes. Am J Physiol Cell Physiol 288: C195-C203, 2005.
28. 2+-specific regulatory sites of troponin C. J Biol Chem 269: 8919-8923, 1994.
29. Kobayashi T, Solaro RJ. Calcium, thin filaments, and the integrative biology of cardiac contractility. Annu Rev Physiol 67: 39-67, 2005.
30. 2+-binding affinity on cooperative thin filament activation in rabbit skeletal muscle. J Physiol 583: 337-350, 2007.
31. Layland J, Solaro RJ, Shah AM. Regulation of cardiac contractile function by troponin I phosphorylation. Cardiovasc Res 66: 12-21, 2005.
32. Li MX, Spyracopoulos L, Sykes BD. Binding of cardiac troponin-I147-163 induces a structural opening in human cardiac troponin-C. Biochemistry 38: 8289-8298, 1999.
33. Li MX, Wang X, Sykes BD. Structural based insights into the role of troponin in cardiac muscle pathophysiology. J Muscle Res Cell Motil 25: 559-579, 2004.
34. Lind JM, Chiu C, Semsarian C. Genetic basis of hypertrophic cardiomyopathy. Expert Rev Cardiovasc Ther 4: 927-934, 2006.
35. MacIntosh BR. Role of calcium sensitivity modulation in skeletal muscle performance. News Physiol Sci 18: 222-225, 2003.
36. Martyn DA, Gordon AM. Influence of length on force and activation-dependent changes in troponin c structure in skinned cardiac and fast skeletal muscle. Biophys J 80: 2798-2808, 2001.
37. Richard P, Villard E, Charron P, Isnard R. The genetic bases of cardiomyopathies. J Am Coll Cardiol 48: A79-A89, 2006.
38. 2+-regulatory site of bovine cardiac troponin. J Biol Chem 257: 260-263, 1982.
39. Roopnarine O. Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy. Biophys J 84: 2440-2449, 2003.
40. Schmidtmann A, Lindow C, Villard S, Heuser A, Mugge A, Gessner R, Granier C, Jaquet K. Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. FEBS J 272: 6087-6097, 2005.
41. Sia SK, Li MX, Spyracopoulos L, Gagne SM, Liu W, Putkey JA, Sykes BD. Structure of cardiac muscle troponin C unexpectedly reveals a closed regulatory domain. J Biol Chem 272: 18216-18221, 1997.
42. Takeda N. Cardiomyopathy: molecular and immunological aspects (review). Int J Mol Med 11: 13-16, 2003.
43. Tardiff JC. Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev 10: 237-248, 2005.
44. Tikunova SB, Davis JP. Designing calcium-sensitizing mutations in the regulatory domain of cardiac troponin C. J Biol Chem 279: 35341-35352, 2004.
45. Tobacman LS, Lin D, Butters C, Landis C, Back N, Pavlov D, Homsher E. Functional consequences of troponin T mutations found in hypertrophic cardiomyopathy. J Biol Chem 274: 28363-28370, 1999.
46. 2+-troponin C affinity in cardiac and slow skeletal muscle. Am J Physiol Cell Physiol 266: C1077-C1082, 1994.
47. Ward DG, Brewer SM, Cornes MP, Trayer IP. A cross-linking study of the N-terminal extension of human cardiac troponin I. Biochemistry 42: 10324-10332, 2003.