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Volumn 35, Issue 1, 2014, Pages 37-45

Muscle dysfunction in hypertrophic cardiomyopathy: What is needed to move to translation?

Author keywords

Cardiac muscle energetics; Cardiac muscle mechanics; Excitation contraction coupling; Myofilament calcium sensitivity; Thick filament; Thin filament

Indexed keywords

ANIMAL; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; PATHOLOGY; PATHOPHYSIOLOGY;

EID: 84899471282     PISSN: 01424319     EISSN: 15732657     Source Type: Journal    
DOI: 10.1007/s10974-014-9374-0     Document Type: Review
Times cited : (22)

References (68)
  • 2
    • 33947531466 scopus 로고    scopus 로고
    • Reviews of Translational Medicine and Genomics in Cardiovascular Disease: New Disease Taxonomy and Therapeutic Implications. Cardiomyopathies: Therapeutics Based on Molecular Phenotype
    • DOI 10.1016/j.jacc.2006.10.073, PII S0735109707001301
    • Ashrafian H, Watkins H (2007) Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype. J Am Coll Cardiol 49:1251-1264 (Pubitemid 46470069) (Pubitemid 46470069)
    • (2007) Journal of the American College of Cardiology , vol.49 , Issue.12 , pp. 1251-1264
    • Ashrafian, H.1    Watkins, H.2
  • 3
    • 0037407012 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: A paradigm for myocardial energy depletion
    • DOI 10.1016/S0168-9525(03)00081-7
    • Ashrafian H, Redwood C, Blair E, Watkins H (2003) Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion. Trends Genet 19:263-268 (Pubitemid 36507008) (Pubitemid 36507008)
    • (2003) Trends in Genetics , vol.19 , Issue.5 , pp. 263-268
    • Ashrafian, H.1    Redwood, C.2    Blair, E.3    Watkins, H.4
  • 4
    • 34547590901 scopus 로고    scopus 로고
    • Metabolic mechanisms in heart failure
    • DOI 10.1161/CIRCULATIONAHA.107.702795, PII 0000301720070724000013
    • Ashrafian H, Frenneaux MP, Opie LH (2007) Metabolic mechanisms in heart failure. Circulation 116:434-448 (Pubitemid 47196549) (Pubitemid 47196549)
    • (2007) Circulation , vol.116 , Issue.4 , pp. 434-448
    • Ashrafian, H.1    Frenneaux, M.P.2    Opie, L.H.3
  • 9
    • 0031883848 scopus 로고    scopus 로고
    • A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity
    • Bottinelli R, Coviello DA, Redwood CS, Pellegrino MA, Maron BJ, Spirito P, Watkins H, Reggiani C (1998) A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity. Circ Res 82:106-115 (Pubitemid 28074023) (Pubitemid 28074023)
    • (1998) Circulation Research , vol.82 , Issue.1 , pp. 106-115
    • Bottinelli, R.1    Coviello, D.A.2    Redwood, C.S.3    Pellegrino, M.A.4    Maron, B.J.5    Spirito, P.6    Watkins, H.7    Reggiani, C.8
  • 13
    • 0027302431 scopus 로고
    • Skeletal muscle expression and abnormal function of -myosin in hypertrophic cardiomyopathy
    • Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND (1993) Skeletal muscle expression and abnormal function of betamyosin in hypertrophic cardiomyopathy. J Clin Invest 91:2861-2865 (Pubitemid 23182546) (Pubitemid 23182546)
    • (1993) Journal of Clinical Investigation , vol.91 , Issue.6 , pp. 2861-2865
    • Cuda, G.1    Fananapazir, L.2    Zhu, W.-S.3    Sellers, J.R.4    Epstein, N.D.5
  • 14
    • 0034698086 scopus 로고    scopus 로고
    • Altered regulatory properties of human cardiac troponin i mutants that cause hypertrophic cardiomyopathy
    • Elliott K, Watkins H, Redwood CS (2000) Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J Biol Chem 275:22069-22077
    • (2000) J Biol Chem , vol.275 , pp. 22069-22077
    • Elliott, K.1    Watkins, H.2    Redwood, C.S.3
  • 18
    • 0030899032 scopus 로고    scopus 로고
    • Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants: Molecular force level of mutant myosins may have a prognostic implication
    • Fujita H, Sugiura S, Momomura S, Omata M, Sugi H, Sutoh K (1997) Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication. J Clin Invest 99:1010-1015 (Pubitemid 27123638) (Pubitemid 27123638)
    • (1997) Journal of Clinical Investigation , vol.99 , Issue.5 , pp. 1010-1015
    • Fujita, H.1    Sugiura, S.2    Momomura, S.-I.3    Omata, M.4    Sugi, H.5    Sutoh, K.6
  • 19
    • 0025040392 scopus 로고
    • A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation
    • Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG (1990) A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 62:999-1006
    • (1990) Cell , vol.62 , pp. 999-1006
    • Geisterfer-Lowrance, A.A.1    Kass, S.2    Tanigawa, G.3    Vosberg, H.P.4    McKenna, W.5    Seidman, C.E.6    Seidman, J.G.7
  • 21
    • 34548633817 scopus 로고    scopus 로고
    • R-92L and R-92W mutations in cardiac troponin T lead to distinct energetic phenotypes in intact mouse hearts
    • DOI 10.1529/biophysj.107.107557
    • He H, Javadpour MM, Latif F, Tardiff JC, Ingwall JS (2007) R-92L and R-92W mutations in cardiac troponin T lead to distinct energetic phenotypes in intact mouse hearts. Biophys J 93:1834-1844 (Pubitemid 47403322) (Pubitemid 47403322)
    • (2007) Biophysical Journal , vol.93 , Issue.5 , pp. 1834-1844
    • He, H.1    Javadpour, M.M.2    Latif, F.3    Tardiff, J.C.4    Ingwall, J.S.5
  • 22
    • 84868130017 scopus 로고    scopus 로고
    • Myosin-driven rescue of contractile reserve and energetics in mouse hearts bearing familial hypertrophic cardiomyopathy-associated mutant troponin T is mutation-specific
    • He H, Hoyer K, Tao H, Rice R, Jimenez J, Tardiff JC, Ingwall JS (2012) Myosin-driven rescue of contractile reserve and energetics in mouse hearts bearing familial hypertrophic cardiomyopathy-associated mutant troponin T is mutation-specific. J Physiol 590:5371-5388
    • (2012) J Physiol , vol.590 , pp. 5371-5388
    • He, H.1    Hoyer, K.2    Tao, H.3    Rice, R.4    Jimenez, J.5    Tardiff, J.C.6    Ingwall, J.S.7
  • 23
    • 0035109415 scopus 로고    scopus 로고
    • Invited review: Pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation
    • Hernandez OM, Housmans PR, Potter JD (2001) Pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation. J Appl Physiol 90:1125-1136 (Pubitemid 32171404) (Pubitemid 32171404)
    • (2001) Journal of Applied Physiology , vol.90 , Issue.3 , pp. 1125-1136
    • Hernandez, O.M.1    Housmans, P.R.2    Potter, J.D.3
  • 24
    • 0037173015 scopus 로고    scopus 로고
    • Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy
    • DOI 10.1161/01.CIR.0000019070.70491.6D
    • Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD (2002) Assessment of diastolic function with doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation 105: 2992-2997 (Pubitemid 34693832) (Pubitemid 34693832)
    • (2002) Circulation , vol.105 , Issue.25 , pp. 2992-2997
    • Ho, C.Y.1    Sweitzer, N.K.2    McDonough, B.3    Maron, B.J.4    Casey, S.A.5    Seidman, J.G.6    Seidman, C.E.7    Solomon, S.D.8
  • 28
    • 0034177712 scopus 로고    scopus 로고
    • Regulation of force and unloaded sliding speed in single thin filaments: Effects of regulatory proteins and calcium
    • Homsher E, Lee DM, Morris C, Pavlov D, Tobacman LS (2000) Regulation of force and unloaded sliding speed in single thin filaments: effects of regulatory proteins and calcium. J Physiol 524:233-243 (Pubitemid 30195317) (Pubitemid 30195317)
    • (2000) Journal of Physiology , vol.524 , Issue.1 , pp. 233-243
    • Homsher, E.1    Lee, D.M.2    Morris, C.3    Pavlov, D.4    Tobacman, L.S.5
  • 29
    • 85047691343 scopus 로고    scopus 로고
    • Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T
    • DOI 10.1172/JCI200315967
    • Javadpour MM, Tardiff JC, Pinz I, Ingwall JS (2003) Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T. J Clin Invest 112:768-775 (Pubitemid 38057717) (Pubitemid 38057717)
    • (2003) Journal of Clinical Investigation , vol.112 , Issue.5 , pp. 768-775
    • Javadpour, M.M.1    Tardiff, J.C.2    Pinz, I.3    Ingwall, J.S.4
  • 31
    • 34250201129 scopus 로고    scopus 로고
    • Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy
    • DOI 10.1126/science.1137325
    • Kim JB, Porreca GJ, Song L, Greenway SC, Gorham JM, Church GM, Seidman CE, Seidman JG (2007) Polony multiplex analysis of gene expression (pmage) in mouse hypertrophic cardiomyopathy. Science 316:1481-1484 (Pubitemid 46906615) (Pubitemid 46906615)
    • (2007) Science , vol.316 , Issue.5830 , pp. 1481-1484
    • Jae, B.K.1    Porreca, G.J.2    Song, L.3    Greenway, S.C.4    Gorham, J.M.5    Church, G.M.6    Seidman, C.E.7    Seidman, J.G.8
  • 34
    • 0028967729 scopus 로고
    • Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy
    • Lankford EB, Epstein ND, Fananapazir L, Sweeney HL (1995) Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest 95:1409-1414
    • (1995) J Clin Invest , vol.95 , pp. 1409-1414
    • Lankford, E.B.1    Epstein, N.D.2    Fananapazir, L.3    Sweeney, H.L.4
  • 36
    • 84862023507 scopus 로고    scopus 로고
    • Engineered troponin C constructs correct disease-related cardiac myofilament calcium sensitivity
    • Liu B, Lee RS, Biesiadecki BJ, Tikunova SB, Davis JP (2012) Engineered troponin C constructs correct disease-related cardiac myofilament calcium sensitivity. J Biol Chem 287:20027-20036
    • (2012) J Biol Chem , vol.287 , pp. 20027-20036
    • Liu, B.1    Lee, R.S.2    Biesiadecki, B.J.3    Tikunova, S.B.4    Davis, J.P.5
  • 37
    • 64549096033 scopus 로고    scopus 로고
    • Resolution of established cardiac hypertrophy and fibrosis and prevention of systolic dysfunction in a transgenic rabbit model of human cardiomyopathy through thiol-sensitive mechanisms
    • Lombardi R, Rodriguez G, Chen SN, Ripplinger CM, Li W, Chen J, Willerson JT, Betocchi S, Wickline SA, Efimov IR, Marian AJ (2009) Resolution of established cardiac hypertrophy and fibrosis and prevention of systolic dysfunction in a transgenic rabbit model of human cardiomyopathy through thiol-sensitive mechanisms. Circulation 119:1398-1407
    • (2009) Circulation , vol.119 , pp. 1398-1407
    • Lombardi, R.1    Rodriguez, G.2    Chen, S.N.3    Ripplinger, C.M.4    Li, W.5    Chen, J.6    Willerson, J.T.7    Betocchi, S.8    Wickline, S.A.9    Efimov, I.R.10    Marian, A.J.11
  • 38
    • 0036872230 scopus 로고    scopus 로고
    • Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy
    • DOI 10.1016/S1050-1738(02)00181-0, PII S1050173802001810
    • Lowey S (2002) Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. Trends Cardiovasc Med 12:348-354 (Pubitemid 36092125) (Pubitemid 36092125)
    • (2002) Trends in Cardiovascular Medicine , vol.12 , Issue.8 , pp. 348-354
    • Lowey, S.1
  • 41
    • 0034976642 scopus 로고    scopus 로고
    • The molecular genetic basis for hypertrophic cardiomyopathy
    • DOI 10.1006/jmcc.2001.1340
    • Marian AJ, Roberts R (2001) The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 33:655-670 (Pubitemid 32538979) (Pubitemid 32538979)
    • (2001) Journal of Molecular and Cellular Cardiology , vol.33 , Issue.4 , pp. 655-670
    • Marian, A.J.1    Roberts, R.2
  • 42
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the cardia study
    • Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE (1995) Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the cardia study. Circulation 92:785-789
    • (1995) Circulation , vol.92 , pp. 785-789
    • Maron, B.J.1    Gardin, J.M.2    Flack, J.M.3    Gidding, S.S.4    Kurosaki, T.T.5    Bild, D.E.6
  • 43
    • 4344705206 scopus 로고    scopus 로고
    • Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy
    • DOI 10.1016/j.jacc.2004.08.052, PII S0735109704017425
    • Maron BJ, Seidman JG, Seidman CE (2004) Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol 44:2125-2132 (Pubitemid 39576030) (Pubitemid 39576030)
    • (2004) Journal of the American College of Cardiology , vol.44 , Issue.11 , pp. 2125-2132
    • Maron, B.J.1    Seidman, J.G.2    Seidman, C.E.3
  • 44
    • 79960564849 scopus 로고    scopus 로고
    • How do mutations in contractile proteins cause the primary familial cardiomyopathies?
    • Marston SB (2011) How do mutations in contractile proteins cause the primary familial cardiomyopathies? J Cardiovasc Transl Res 4:245-255
    • (2011) J Cardiovasc Transl Res , vol.4 , pp. 245-255
    • Marston, S.B.1
  • 46
    • 0037383844 scopus 로고    scopus 로고
    • Heterologous expression of wild-type and mutant -cardiac myosin changes the contractile kinetics of cultured mouse myotubes
    • DOI 10.1113/jphysiol.2002.031922
    • Miller G, Maycock J, White E, Peckham M, Calaghan S (2003) Heterologous expression of wild-type and mutant beta-cardiac myosin changes the contractile kinetics of cultured mouse myotubes. J Physiol 548:167-174 (Pubitemid 36410806) (Pubitemid 36410806)
    • (2003) Journal of Physiology , vol.548 , Issue.1 , pp. 167-174
    • Miller, G.1    Maycock, J.2    White, E.3    Peckham, M.4    Calaghan, S.5
  • 49
    • 77951623621 scopus 로고    scopus 로고
    • Solution structure of the regulatory domain of human cardiac troponin C in complex with the switch region of cardiac troponin i and W7: The basis of W7 as an inhibitor of cardiac muscle contraction
    • Oleszczuk M, Robertson IM, Li MX, Sykes BD (2010) Solution structure of the regulatory domain of human cardiac troponin C in complex with the switch region of cardiac troponin I and W7: the basis of W7 as an inhibitor of cardiac muscle contraction. J Mol Cell Cardiol 48:925-933
    • (2010) J Mol Cell Cardiol , vol.48 , pp. 925-933
    • Oleszczuk, M.1    Robertson, I.M.2    Li, M.X.3    Sykes, B.D.4
  • 51
    • 0034494362 scopus 로고    scopus 로고
    • R403Q and L908V mutant -cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level
    • DOI 10.1023/A:1005678905119
    • Palmiter KA, Tyska MJ, Haeberle JR, Alpert NR, Fananapazir L, Warshaw DM (2000) R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level. J Muscle Res Cell Motil 21:609-620 (Pubitemid 32128224) (Pubitemid 32128224)
    • (2000) Journal of Muscle Research and Cell Motility , vol.21 , Issue.7 , pp. 609-620
    • Palmiter, K.A.1    Tyska, M.J.2    Haeberle, J.R.3    Alpert, N.R.4    Fananapazir, L.5    Warshaw, D.M.6
  • 54
    • 69249100097 scopus 로고    scopus 로고
    • Solution structure of human cardiac troponin C in complex with the green tea polyphenol, (-)-epigallocatechin 3-gallate
    • Robertson IM, Li MX, Sykes BD (2009) Solution structure of human cardiac troponin C in complex with the green tea polyphenol, (-)-epigallocatechin 3-gallate. J Biol Chem 284:23012-23023
    • (2009) J Biol Chem , vol.284 , pp. 23012-23023
    • Robertson, I.M.1    Li, M.X.2    Sykes, B.D.3
  • 55
    • 0031794853 scopus 로고    scopus 로고
    • Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy
    • Roopnarine O, Leinwand LA (1998) Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. Biophys J 75:3023-3030 (Pubitemid 28548970) (Pubitemid 28548970)
    • (1998) Biophysical Journal , vol.75 , Issue.6 , pp. 3023-3030
    • Roopnarine, O.1    Leinwand, L.A.2
  • 56
    • 0030454149 scopus 로고    scopus 로고
    • Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome
    • Sata M, Ikebe M (1996) Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome. J Clin Invest 98:2866-2873
    • (1996) J Clin Invest , vol.98 , pp. 2866-2873
    • Sata, M.1    Ikebe, M.2
  • 57
    • 84863723103 scopus 로고    scopus 로고
    • Myofilament Ca sensitization increases cytosolic Ca binding affinity, alters intracellular Ca homeostasis, and causes pause-dependent Ca-triggered arrhythmia
    • Schober T, Huke S, Venkataraman R, Gryshchenko O, Kryshtal D, Hwang HS, Baudenbacher FJ, Knollmann BC (2012) Myofilament Ca sensitization increases cytosolic Ca binding affinity, alters intracellular Ca homeostasis, and causes pause-dependent Ca-triggered arrhythmia. Circ Res 111:170-179
    • (2012) Circ Res , vol.111 , pp. 170-179
    • Schober, T.1    Huke, S.2    Venkataraman, R.3    Gryshchenko, O.4    Kryshtal, D.5    Hwang, H.S.6    Baudenbacher, F.J.7    Knollmann, B.C.8
  • 59
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
    • DOI 10.1016/S0092-8674(01)00242-2
    • Seidman JG, Seidman C (2001) The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104:557-567 (Pubitemid 32201950) (Pubitemid 32201950)
    • (2001) Cell , vol.104 , Issue.4 , pp. 557-567
    • Seidman, J.G.1    Seidman, C.2
  • 64
    • 33745027953 scopus 로고    scopus 로고
    • Ablation of cardiac myosin-binding protein-C accelerates stretch activation in murine skinned myocardium
    • DOI 10.1161/01.RES.0000219863.94390.ce, PII 0000301220060512000017
    • Stelzer JE, Dunning SB, Moss RL (2006) Ablation of cardiac myosinbinding protein-C accelerates stretch activation in murine skinned myocardium. Circ Res 98:1212-1218 (Pubitemid 43948108) (Pubitemid 43948108)
    • (2006) Circulation Research , vol.98 , Issue.9 , pp. 1212-1218
    • Stelzer, J.E.1    Dunning, S.B.2    Moss, R.L.3
  • 65
    • 0032564354 scopus 로고    scopus 로고
    • Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: Insights into disease pathogenesis and troponin function
    • DOI 10.1073/pnas.95.24.14406
    • Sweeney HL, Feng HS, Yang Z, Watkins H (1998) Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function. Proc Natl Acad Sci U S A 95:14406-14410 (Pubitemid 28549380) (Pubitemid 28549380)
    • (1998) Proceedings of the National Academy of Sciences of the United States of America , vol.95 , Issue.24 , pp. 14406-14410
    • Sweeney, H.L.1    Feng, H.S.2    Yang, Z.3    Watkins, H.4
  • 66
    • 0034646743 scopus 로고    scopus 로고
    • Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy
    • Tyska MJ, Hayes E, Giewat M, Seidman CE, Seidman JG, Warshaw DM (2000) Single molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Res 86:737-744 (Pubitemid 30217821) (Pubitemid 30217821)
    • (2000) Circulation Research , vol.86 , Issue.7 , pp. 737-744
    • Tyska, M.J.1    Hayes, E.2    Giewat, M.3    Seidman, C.E.4    Seidman, J.G.5    Warshaw, D.M.6


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