Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy

Progress in Pediatric Cardiology

Volumn 31, Issue 1, 2011, Pages 29-33

  Frazier, Aisha H ^a   Ramirez Correa, Genaro A ^a   Murphy, Anne M ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cardiac muscle; Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Sarcomere

Indexed keywords

ARTICLE; CELL COMPOSITION; CELL FUNCTION; CONGESTIVE CARDIOMYOPATHY; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTEIN PROCESSING; SARCOMERE;

EID: 79451471006     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ppedcard.2010.11.006     Document Type: Article

References (56)

1. Geisterfer-Lowrance A.A., Kass S., Tanigawa G., et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990, 62(5):999-1006.
2. Thierfelder L., Watkins H., MacRae C., et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994, 77(5):701-712.
3. Morimoto S. Sarcomeric proteins and inherited cardiomyopathies. Cardiovasc Res 2008, 77(4):659-666.
4. Xu Q., Dewey S., Nguyen S., Gomes A.V. Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes. J Mol Cell Cardiol 2010, 48(5):899-909.
5. Hinken A.C., Solaro R.J. A dominant role of cardiac molecular motors in the intrinsic regulation of ventricular ejection and relaxation. Physiology (Bethesda) 2007, 22:73-80.
6. Tardiff J.C. Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev 2005, 10(3):237-248.
7. Debold E.P., Schmitt J.P., Patlak J.B., et al. Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. Am J Physiol Heart Circ Physiol 2007, 293(1):H284-H291.
8. Tyska M.J., Hayes E., Giewat M., Seidman C.E., Seidman J.G., Warshaw D.M. Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Res 2000, 86(7):737-744.
9. Keller D.I., Coirault C., Rau T., et al. Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties. J Mol Cell Cardiol 2004, 36(3):355-362.
10. Chandra M., Tschirgi M.L., Tardiff J.C. Increase in tension-dependent ATP consumption induced by cardiac troponin T mutation. Am J Physiol Heart Circ Physiol 2005, 289(5):H2112-H2119.
11. He H., Javadpour M.M., Latif F., Tardiff J.C., Ingwall J.S. R-92L and R-92W mutations in cardiac troponin T lead to distinct energetic phenotypes in intact mouse hearts. Biophys J 2007, 93(5):1834-1844.
12. Davis J., Wen H., Edwards T., Metzger J.M. Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants. J Mol Cell Cardiol 2008, 44(5):891-904.
13. Gomes A.V., Liang J., Potter J.D. Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. J Biol Chem 2005, 280(35):30909-30915.
14. Yumoto F., Lu Q.W., Morimoto S., et al. Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. Biochem Biophys Res Commun 2005, 338(3):1519-1526.
15. Georgakopoulos D., Christe M.E., Giewat M., Seidman C.M., Seidman J.G., Kass D.A. The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation. Nat Med 1999, 5(3):327-330.
16. Fatkin D., McConnell B.K., Mudd J.O., et al. An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest 2000, 106(11):1351-1359.
17. Ho C.Y., Sweitzer N.K., McDonough B., et al. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation 2002, 105(25):2992-2997.
18. Semsarian C., Ahmad I., Giewat M., et al. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest 2002, 109(8):1013-1020.
19. Jagatheesan G., Rajan S., Petrashevskaya N., et al. Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis. Am J Physiol Heart Circ Physiol 2007, 293(2):H949-H958.
20. Wang L., Seidman J.G., Seidman C.E. Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med 2010, 152(8):513-520. W181.
21. Fatkin D., Otway R., Richmond Z. Genetics of dilated cardiomyopathy. Heart Fail Clin 2010, 6(2):129-140.
22. Jefferies J.L., Towbin J.A. Dilated cardiomyopathy. Lancet 2010, 375(9716):752-762.
23. Judge D.P. Use of genetics in the clinical evaluation of cardiomyopathy. Jama 2009, 302(22):2471-2476.
24. Bodor G.S., Oakeley A.E., Allen P.D., Crimmins D.L., Ladenson J.H., Anderson P.A. Troponin I phosphorylation in the normal and failing adult human heart. Circulation 1997, 96(5):1495-1500.
25. Zakhary D.R., Moravec C.S., Stewart R.W., Bond M. Protein kinase A (PKA)-dependent troponin-I phosphorylation and PKA regulatory subunits are decreased in human dilated cardiomyopathy. Circulation 1999, 99(4):505-510.
26. Takimoto E., Soergel D.G., Janssen P.M., Stull L.B., Kass D.A., Murphy A.M. Frequency- and afterload-dependent cardiac modulation in vivo by troponin I with constitutively active protein kinase A phosphorylation sites. Circ Res 2004, 94(4):496-504.
27. Sakthivel S., Finley N.L., Rosevear P.R., et al. In vivo and in vitro analysis of cardiac troponin I phosphorylation. J Biol Chem 2005, 280(1):703-714.
28. Bilchick K.C., Duncan J.G., Ravi R., et al. Heart failure-associated alterations in troponin I phosphorylation impair ventricular relaxation-afterload and force-frequency responses and systolic function. Am J Physiol Heart Circ Physiol 2007, 292(1):H318-H325.
29. Lai N.C., Tang T., Gao M.H., et al. Activation of cardiac adenylyl cyclase expression increases function of the failing ischemic heart in mice. J Am Coll Cardiol 2008, 51(15):1490-1497.
30. Hamdani N., Kooij V., van Dijk S., et al. Sarcomeric dysfunction in heart failure. Cardiovasc Res 2008, 77(4):649-658.
31. Noguchi T., Hunlich M., Camp P.C., et al. Thin-filament-based modulation of contractile performance in human heart failure. Circulation 2004, 110(8):982-987.
32. Gao W.D., Perez N.G., Seidman C.E., Seidman J.G., Marban E. Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy. J Clin Invest 1999, 103(5):661-666.
33. Palmer B.M., Fishbaugher D.E., Schmitt J.P., et al. Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. Am J Physiol Heart Circ Physiol 2004, 287(1):H91-H99.
34. Lowey S. Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. Trends Cardiovasc Med 2002, 12(8):348-354.
35. Yang Q., Sanbe A., Osinska H., Hewett T.E., Klevitsky R., Robbins J. A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. J Clin Invest 1998, 102(7):1292-1300.
36. Szczesna-Cordary D., Guzman G., Zhao J., Hernandez O., Wei J., Diaz-Perez Z. The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. J Cell Sci 2005, 118(Pt 16):3675-3683.
37. Chandra M., Rundell V.L., Tardiff J.C., Leinwand L.A., De Tombe P.P., Solaro R.J. Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T. Am J Physiol Heart Circ Physiol 2001, 280(2):H705-H713.
38. Miller T., Szczesna D., Housmans P.R., et al. Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation. J Biol Chem 2001, 276(6):3743-3755.
39. Szczesna D., Zhang R., Zhao J., Jones M., Guzman G., Potter J.D. Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. J Biol Chem 2000, 275(1):624-630.
40. Tardiff J.C., Hewett T.E., Palmer B.M., et al. Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. J Clin Invest 1999, 104(4):469-481.
41. James J., Zhang Y., Osinska H., et al. Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy. Circ Res 2000, 87(9):805-811.
42. Prabhakar R., Boivin G.P., Grupp I.L., et al. A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice. J Mol Cell Cardiol 2001, 33(10):1815-1828.
43. Evans C.C., Pena J.R., Phillips R.M., et al. Altered hemodynamics in transgenic mice harboring mutant tropomyosin linked to hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol 2000, 279(5):H2414-H2423.
44. Muthuchamy M., Pieples K., Rethinasamy P., et al. Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. Circ Res 1999, 85(1):47-56.
45. Bookwalter C.S., Trybus K.M. Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. J Biol Chem 2006, 281(24):16777-16784.
46. Kamisago M., Sharma S.D., DePalma S.R., et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000, 343(23):1688-1696.
47. Schmitt J.P., Debold E.P., Ahmad F., et al. Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. Proc Natl Acad Sci USA 2006, 103(39):14525-14530.
48. Mirza M., Marston S., Willott R., et al. Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. J Biol Chem 2005, 280(31):28498-28506.
49. Morimoto S., Lu Q.W., Harada K., et al. Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci USA 2002, 99(2):913-918.
50. Robinson P., Mirza M., Knott A., 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. J Biol Chem 2002, 277(43):40710-40716.
51. Venkatraman G., Harada K., Gomes A.V., Kerrick W.G., Potter J.D. Different functional properties of troponin T mutants that cause dilated cardiomyopathy. J Biol Chem 2003, 278(43):41670-41676.
52. Carballo S., Robinson P., Otway R., et al. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res 2009, 105(4):375-382.
53. Dyer E.C., Jacques A.M., Hoskins A.C., et al. Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle. Circ Heart Fail 2009, 2(5):456-464.
54. Mirza M., Robinson P., Kremneva E., et al. The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments. J Biol Chem 2007, 282(18):13487-13497.
55. Olson T.M., Michels V.V., Thibodeau S.N., Tai Y.S., Keating M.T. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998, 280(5364):750-752.
56. Song W., Dyer E., Stuckey D., et al. Investigation of a transgenic mouse model of familial dilated cardiomyopathy. J Mol Cell Cardiol 2010, 49(3):380-389.