Malignant and benign mutations in familial cardiomyopathies: Insights into mutations linked to complex cardiovascular phenotypes

Journal of Molecular and Cellular Cardiology

Volumn 48, Issue 5, 2010, Pages 899-909

  Xu, Qian ^a   Dewey, Shannamar ^a   Nguyen, Susan ^a   Gomes, Aldrin V ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cardiomyopathy; Dilated; Familial; Hypertrophic; Restrictive; Sarcomere; Ventricular noncompaction

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; CALCIUM ION; TROPONIN C; TROPONIN I; TROPONIN T;

AMINO ACID SUBSTITUTION; CALCIUM SIGNALING; CARDIOMYOPATHY; CONGESTIVE CARDIOMYOPATHY; DISEASE SEVERITY; ENZYME ACTIVITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART ARRHYTHMIA; HEART FAILURE; HEART TRANSPLANTATION; HEART VENTRICLE NONCOMPACTION CARDIOMYOPATHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE METABOLISM; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROGNOSIS; PROTEIN PROTEIN INTERACTION; RESTRICTIVE CARDIOMYOPATHY; REVIEW; SARCOMERE; SUDDEN DEATH;

ANIMALS; CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; CARDIOMYOPATHY, RESTRICTIVE; HUMANS; MUTATION; SARCOMERES;

EID: 77951582392     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2010.03.005     Document Type: Review

References (134)

1. Evans W. Familial cardiomegaly. Br Heart J 1949, 11:68-82.
2. Richardson P., McKenna W., Bristow M., Maisch B., Mautner B., O'Connell J., et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 1996, 93:841-842.
3. Sarma R.J., Chana A., Elkayam U. Left ventricular noncompaction. Prog Cardiovasc Dis 2010, 52:264-273.
4. Maron B.J. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002, 287:1308-1320.
5. Maron B.J., Gardin J.M., Flack J.M., Gidding S.S., Kurosaki T.T., Bild D.E. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults. Circulation 1995, 92:785-789.
6. Carniel E., Taylor M.R., Sinagra G., Di Lenarda A., Ku L., Fain P.R., et al. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation 2005, 112:54-59.
7. Flavigny J., Richard P., Isnard R., Carrier L., Charron P., Bonne G., et al. Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J Mol Med 1998, 76:208-214.
8. Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003, 107:2227-2232.
9. Alders M., Jongbloed R., Deelen W., van den Wijngaard A., Doevendans P., Ten Cate F., et al. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 2003, 24:1848-1853.
10. Watkins H., Seidman C.E., Seidman J.G., Feng H.S., Sweeney H.L. Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. J Clin Invest 1996, 98:2456-2461.
11. Doolan A., Tebo M., Ingles J., Nguyen L., Tsoutsman T., Lam L., et al. Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. J Mol Cell Cardiol 2005, 38:387-393.
12. Hoffmann B., Schmidt-Traub H., Perrot A., Osterziel K.J., Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat 2001, 17:524.
13. Thierfelder L., Watkins H., MacRae C., Lamas R., McKenna W., Vosberg H.P., et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994, 77:701-712.
14. Mogensen J., Klausen I.C., Pedersen A.K., Egeblad H., Bross P., Kruse T., et al. α-Cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999, 103:R39-R43.
15. Chiu C., Bagnall R.D., Ingles J., Yeates L., Kennerson M., Donald J.A., et al. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol 2010, 55:1127-1135.
16. Van Driest S.L., Ommen S.R., Tajik A.J., Gersh B.J., Ackerman M.J. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc 2005, 80:463-469.
17. Arimura T., Bos J.M., Sato A., Kubo T., Okamoto H., Nishi H., et al. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol 2009, 54:334-342.
18. Geier C., Perrot A., Özcelik C., Binner P., Counsell D., Hoffmann K., et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation 2003, 107:1390-1395.
19. Osio A., Tan L., Chen S.N., Lombardi R., Nagueh S.F., Shete S., et al. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res 2007, 100:766-768.
20. Geier C., Gehmlich K., Ehler E., Hassfeld S., Perrot A., Hayess K., et al. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet 2008, 17:2753-2765.
21. Arimura T., Matsumoto Y., Okazaki O., Hayashi T., Takahashi M., Inagaki N., et al. Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2007, 362:281-287.
22. D'Amico A., Graziano C., Pacileo G., Petrini S., Nowak K.J., Boldrini R., et al. Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromuscul Disord 2006, 16:548-552.
23. Hayashi T., Arimura T., Itoh-Satoh M., Ueda K., Hohda S., Inagaki N., et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol 2004, 44:2192-2201.
24. Satoh M., Takahashi M., Sakamoto T., Hiroe M., Marumo F., Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999, 262:411-417.
25. Vasile V.C., Will M.L., Ommen S.R., Edwards W.D., Olson T.M., Ackerman M.J. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol Genet Metab 2006, 87:169-174.
26. Van Driest S.L., Ommen S.R., Tajik A.J., Gersh B.J., Ackerman M.J. Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc 2005, 80:739-744.
27. Morita H., DePalma S.R., Arad M., McDonough B., Barr S., Duffy C., et al. Molecular epidemiology of hypertrophic cardiomyopathy. Cold Spring Harb Symp Quant Biol 2002, 67:383-388.
28. Liberthson R.R. Sudden death from cardiac causes in children and young adults. N Engl J Med 1996, 334:1039-1044.
29. Rich B.S. Sudden death screening. Med Clin North Am 1994, 78:267-288.
30. Zheng Z.J., Croft J.B., Giles W.H., Mensah G.A. Sudden cardiac death in the United States, 1989 to 1998. Circulation 2001, 104:2158-2163.
31. Priori S.G., Aliot E., Blomstrom-Lundqvist C., Bossaert L., Breithardt G., Brugada P., et al. Task force on sudden cardiac death of the european society of cardiology. Eur Heart J 2001, 22:1374-1450.
32. Seidman J.G., Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001, 104:557-567.
33. Kitaoka H., Doi Y., Casey S.A., Hitomi N., Furuno T., Maron B.J. Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States. Am J Cardiol 2003, 92:1183-1186.
34. Sakamoto T., Amano K., Hada Y., Tei C., Takenaka K., Hasegawa I., et al. Asymmetric apical hypertrophy: ten years experience. Postgrad Med J 1986, 62:567-570.
35. Sakamoto T., Tei C., Murayama M., Ichiyasu H., Hada Y. Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy (AAH) of the left ventricle. Echocardiographic and ultrasono-cardiotomographic study. Jpn Heart J 1976, 17:611-629.
36. Yamaguchi H., Ishimura T., Nishiyama S., Nagasaki F., Nakanishi S., Takatsu F., et al. Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am J Cardiol 1979, 44:401-412.
37. Koga Y., Katoh A., Matsuyama K., Ikeda H., Hiyamuta K., Toshima H., et al. Disappearance of giant negative T waves in patients with the Japanese form of apical hypertrophy. J Am Coll Cardiol 1995, 26:1672-1678.
38. Maron B.J., Bonow R.O., Seshagiri T.N., Roberts W.C., Epstein S.E. Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy). Am J Cardiol 1982, 49:1838-1848.
39. Wigle E.D. Novel insights into the clinical manifestations and treatment of hypertrophic cardiomyopathy. Curr Opin Cardiol 1995, 10:299-305.
40. Kamisago M., Sharma S.D., DePalma S.R., Solomon S., Sharma P., McDonough B., et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000, 343:1688-1696.
41. Gilbert E.M., Di Lenarda A., O'Connell J.B. Dilated cardiomyopathy: prognosis and management 1993, Springer-Verlag, Heidelberg.
42. Maron B.J., Thompson P.D., Puffer J.C., McGrew C.A., Strong W.B., Douglas P.S., et al. Cardiovascular preparticipation screening of competitive athletes. A statement for health professionals from the Sudden Death Committee (clinical cardiology) and Congenital Cardiac Defects Committee (cardiovascular disease in the young), American Heart Association. Circulation 1996, 94:850-856.
43. Burkett E.L., Hershberger R.E. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005, 45:969-981.
44. Csanady M., Hogye M., Kallai A., Forster T., Szarazajtai T. Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms. Br Heart J 1995, 74:171-173.
45. Kaski J.P., Syrris P., Burch M., Tome-Esteban M.T., Fenton M., Christiansen M., et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 2008, 94:1478-1484.
46. Kamisago M., Sharma S.D., DePalma S.R., Solomon S., Sharma P., McDonough B., et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000, 343:1688-1696.
47. Kokado H., Shimizu M., Yoshio H., Ino H., Okeie K., Emoto Y., et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation 2000, 102:663-669.
48. Lakdawala N.K., Dellefave L., Redwood C.S., Sparks E., Cirino A.L., Depalma S., et al. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol 2010, 55:320-329.
49. Mogensen J., Murphy R.T., Shaw T., Bahl A., Redwood C., Watkins H., et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 2004, 44:2033-2040.
50. Ehlermann P., Weichenhan D., Zehelein J., Steen H., Pribe R., Zeller R., et al. Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. BMC Med Genet 2008, 9:95.
51. Felker G.M., Thompson R.E., Hare J.M., Hruban R.H., Clemetson D.E., Howard D.L., et al. Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy. N Engl J Med 2000, 342:1077-1084.
52. Kushwaha S.S., Fallon J.T., Fuster V. Restrictive cardiomyopathy. N Engl J Med 1997, 336:267-276.
53. Mogensen J., Arbustini E. Restrictive cardiomyopathy. Curr Opin Cardiol 2009, 24:214-220.
54. 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, 280:30909-30915.
55. Yumoto F., Lu Q.W., Morimoto S., Tanaka H., Kono N., Nagata K., 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, 338:1519-1526.
56. Kubo T., Gimeno J.R., Bahl A., Steffensen U., Steffensen M., Osman E., et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol 2007, 49:2419-2426.
57. Mogensen J., Kubo T., Duque M., Uribe W., Shaw A., Murphy R., et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest 2003, 111:209-216.
58. McNally E., Dellefave L. Sarcomere mutations in cardiogenesis and ventricular noncompaction. Trends Cardiovasc Med 2009, 19:17-21.
59. Maron B.J., Towbin J.A., Thiene G., Antzelevitch C., Corrado D., Arnett D., 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 2006, 113:1807-1816.
60. Klaassen S., Probst S., Oechslin E., Gerull B., Krings G., Schuler P., et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 2008, 117:2893-2901.
61. Luedde M., Ehlermann P., Weichenhan D., Will R., Zeller R., Rupp S., et al. Severe familial left ventricular noncompaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. Cardiovasc Res 2010, ; in press.
62. Monserrat L., Hermida-Prieto M., Fernandez X., Rodriguez I., Dumont C., Cazon L., et al. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J 2007, 28:1953-1961.
63. McCulloch C., Jadhav S., Glen S., Bridges A. Isolated left ventricular non-compaction, not hypertrophic cardiomyopathy. QJM 2004, 97:827-828.
64. Sen-Chowdhry S., McKenna W.J. Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?. Curr Opin Cardiol 2008, 23:171-175.
65. Walsh R., Rutland C., Thomas R., Loughna S. Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. Cardiology 2010, 115:49-60.
66. Garcia-Castro M., Reguero J.R., Batalla A., Diaz-Molina B., Gonzalez P., Alvarez V., et al. Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. Clin Chem 2003, 49:1279-1285.
67. Andersen P.S., Havndrup O., Bundgaard H., Moolman-Smook J.C., Larsen L.A., Mogensen J., et al. Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations. J Med Genet 2001, 38:E43.
68. Kabaeva Z.T., Perrot A., Wolter B., Dietz R., Cardim N., Correia J.M., et al. Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. Eur J Hum Genet 2002, 10:741-748.
69. Mogensen J., Murphy R.T., Kubo T., Bahl A., Moon J.C., Klausen I.C., et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004, 44:2315-2325.
70. Watkins H., Conner D., Thierfelder L., Jarcho J.A., MacRae C., McKenna W.J., et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995, 11:434-437.
71. Moolman J.C., Corfield V.A., Posen B., Ngumbela K., Seidman C., Brink P.A., et al. Sudden death due to troponin T mutations. J Am Coll Cardiol 1997, 29:549-555.
72. Hershberger R.C., Parks S.B., Kushner J.D., Li D., Ludwigsen S., Jakobs P., et al. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci 2008, 1:21-26.
73. Gimeno J.R., Monserrat L., Perez-Sanchez I., Marin F., Caballero L., Hermida-Prieto M., et al. Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 spanish families. Rev Esp Cardiol 2009, 62:1473-1477.
74. Watkins H., McKenna W., Thierfelder L., Suk J., Anan R., O'Donoghue A., et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995, 332:1058-1064.
75. Dhandapany P.S., Sadayappan S., Xue Y., Powell G.T., Rani D.S., Nallari P., et al. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet 2009, 41:187-191.
76. Niimura H., Bachinski L.L., Sangwatanaroj S., Watkins H., Chudley A.E., McKenna W., et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998, 338:1248-1257.
77. Moolman J.A., Reith S., Uhl K., Bailey S., Gautel M., Jeschke B., et al. A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation 2000, 101:1396-1402.
78. Erdmann J., Raible J., Maki-Abadi J., Hummel M., Hammann J., Wollnik B., et al. Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol 2001, 38:322-330.
79. Spirito P., Bellone P. Natural history of hypertrophic cardiomyopathy. Br Heart J 1994, 72:S10-S12.
80. Karkkainen S., Helio T., Jaaskelainen P., Miettinen R., Tuomainen P., Ylitalo K., et al. Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. Eur J Heart Fail 2004, 6:861-868.
81. McConnell B.K., Jones K.A., Fatkin D., Arroyo L.H., Lee R.T., Aristizabal O., et al. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J Clin Invest 1999, 104:1235-1244.
82. Konno T., Shimizu M., Ino H., Matsuyama T., Yamaguchi M., Terai H., et al. A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. J Am Coll Cardiol 2003, 41:781-786.
83. Rai T.S., Ahmad S., Bahl A., Ahuja M., Ahluwalia T.S., Singh B., et al. Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy. Mol Cell Biochem 2009, 321:189-196.
84. Menon S.C., Michels V.V., Pellikka P.A., Ballew J.D., Karst M.L., Herron K.J., et al. Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet 2008, 74:445-454.
85. Miller T., Szczesna D., Housmans P.R., Zhao J., de Freitas F., Gomes A.V., et al. Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation. J Biol Chem 2001, 276:3743-3755.
86. 2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. J Biol Chem 1999, 274:8806-8812.
87. 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, 275:624-630.
88. Robinson P., Griffiths P.J., Watkins H., Redwood C.S. Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. Circ Res 2007, 101:1266-1273.
89. Arad M., Penas-Lado M., Monserrat L., Maron B.J., Sherrid M., Ho C.Y., et al. Gene mutations in apical hypertrophic cardiomyopathy. Circulation 2005, 112:2805-2811.
90. Rayment I., Holden H.M., Sellers J.R., Fananapazir L., Epstein N.D. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A 1995, 92:3864-3868.
91. Woo A., Rakowski H., Liew J.C., Zhao M.S., Liew C.C., Parker T.G., et al. Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart 2003, 89:1179-1185.
92. 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, 280:750-752.
93. Kumar A., Crawford K., Close L., Madison M., Lorenz J., Doetschman T., et al. Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin. Proc Natl Acad Sci U S A 1997, 94:4406-4411.
94. Matsumoto F., Maeda K., Chatake T., Maeda Y., Fujiwara S. Functional aberration of myofibrils by cardiomyopathy-causing mutations in the coiled-coil region of the troponin-core domain. Biochem Biophys Res Commun 2009, 382:205-209.
95. 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, 280:30909-30915.
96. Lang R., Gomes A.V., Zhao J., Housmans P.R., Miller T., Potter J.D. Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. J Biol Chem 2002, 277:11670-11678.
97. Takahashi-Yanaga F., Morimoto S., Harada K., Minakami R., Shiraishi F., Ohta M., et al. Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2001, 33:2095-2107.
98. Meurs K.M., Mealey K.L. Evaluation of the flanking nucleotide sequences of sarcomeric hypertrophic cardiomyopathy substitution mutations. Mutat Res 2008, 642:86-89.
99. Antonarakis S.E., Krawczak M., Cooper D.N. The nature and mechanisms of human gene mutation. The metabolic and molecular basis of inherited disease 2001, 343-377. McGraw-Hill, New York. C.R. Scriver, W.S. Sly (Eds.).
100. Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003, 31:3812-3814.
101. Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009, 4:1073-1081.
102. Murphy R.T., Mogensen J., Shaw A., Kubo T., Hughes S., McKenna W.J. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 2004, 363:371-372.
103. 2+)-sensitivity, phosphorylation kinetics and proteolytic susceptibility of troponin. J Mol Cell Cardiol 2005, 39:754-765.
104. Morimoto S. Sarcomeric proteins and inherited cardiomyopathies. Cardiovasc Res 2008, 77:659-666.
105. Tardiff J.C. Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev 2005, 10:237-248.
106. Gomes A.V., Venkatraman G., Potter J.D. The miscommunicative cardiac cell: when good proteins go bad. Ann N Y Acad Sci 2005, 1047:30-37.
107. Senthil V., Chen S.N., Sidhu J.S., Roberts R., Marian A.J. Differences in protein-protein interactions as a basis for the contrasting phenotypes of hypertrophic and dilated cardiomyopathies resulting from different mutations in the same sarcomeric protein. J Am Coll Cardiol 2006, 47:62A-63A.
108. Moulik M., Vatta M., Witt S.H., Arola A.M., Murphy R.T., McKenna W.J., et al. ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. J Am Coll Cardiol 2009, 54:325-333.
109. Itoh-Satoh M., Hayashi T., Nishi H., Koga Y., Arimura T., Koyanagi T., et al. Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun 2002, 291:385-393.
110. Ho C.Y., Seidman C.E. A contemporary approach to hypertrophic cardiomyopathy. Circulation 2006, 113:e858-e862.
111. Frey N., Brixius K., Schwinger R.H., Benis T., Karpowski A., Lorenzen H.P., et al. Alterations of tension-dependent ATP utilization in a transgenic rat model of hypertrophic cardiomyopathy. J Biol Chem 2006, 281:29575-29582.
112. 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:H2112-H2119.
113. Wen Y., Pinto J.R., Gomes A.V., Xu Y., Wang Y., Wang Y., et al. Functional consequences of the human cardiac troponin i hypertrophic cardiomyopathy mutation R145G in transgenic mice. J Biol Chem 2008, 283:20484-20494.
114. 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, 93:1834-1844.
115. Keller D.I., Coirault C., Rau T., Cheav T., Weyand M., Amann K., et al. Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties. J Mol Cell Cardiol 2004, 36:355-362.
116. Hoyer K., Krenz M., Robbins J., Ingwall J.S. Shifts in the myosin heavy chain isozymes in the mouse heart result in increased energy efficiency. J Mol Cell Cardiol 2007, 42:214-221.
117. Hilfiker-Kleiner D., Knoll R. Disease-modifying mutations in familial hypertrophic cardiomyopathy: complexity from simplicity. Circulation 2008, 117:1775-1777.
118. Alpert N.R., Mohiddin S.A., Tripodi D., Jacobson-Hatzell J., Vaughn-Whitley K., Brosseau C., et al. Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations. Am J Physiol Heart Circ Physiol 2005, 288:H1097-H1102.
119. Ho C.Y., Lever H.M., DeSanctis R., Farver C.F., Seidman J.G., Seidman C.E. Homozygous mutation in cardiac troponin T. Implications for hypertrophic cardiomyopathy. Circulation 2000, 102:1950-1955.
120. Friedrich F.W., Bausero P., Sun Y., Treszl A., Kramer E., Juhr D., et al. A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy. Eur Heart J 2009, 30:1648-1655.
121. Frisso G., Limongelli G., Pacileo G., Del Giudice A., Forgione L., Calabro P., et al. A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy. Clin Genet 2009, 76:91-101.
122. Geisterfer-Lowrance A.A., Christe M., Conner D.A.., Ingwall J.S., Schoen F.J., Seidman C.E., et al. A mouse model of familial hypertrophic cardiomyopathy. Science 1996, 272:731-734.
123. Fatkin D., Christe M.E., Aristizabal O., McConnell B.K., Srinivasan S., Schoen F.J., et al. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene. J Clin Invest 1999, 103:147-153.
124. Tsoutsman T., Kelly M., Ng D.C., Tan J.E., Tu E., Lam L., et al. Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy. Circulation 2008, 117:1820-1831.
125. Deinum J., van Gool J.M., Kofflard M.J., ten Cate F.J., Danser A.H. Angiotensin II type 2 receptors and cardiac hypertrophy in women with hypertrophic cardiomyopathy. Hypertension 2001, 38:1278-1281.
126. Osterop A.P., Kofflard M.J., Sandkuijl L.A., ten Cate F.J., Krams R., Schalekamp M.A., et al. AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension 1998, 32:825-830.
127. Ortlepp J.R., Vosberg H.P., Reith S., Ohme F., Mahon N.G., Schroder D., et al. Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene. Heart 2002, 87:270-275.
128. Tesson F., Dufour C., Moolman J.C., Carrier L., al-Mahdawi S., Chojnowska L., et al. The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. J Mol Cell Cardiol 1997, 29:831-838.
129. Chen G., Zhou X., Nicolaou P., Rodriguez P., Song G., Mitton B., et al. A human polymorphism of protein phosphatase-1 inhibitor-1 is associated with attenuated contractile response of cardiomyocytes to beta-adrenergic stimulation. FASEB J 2008, 22:1790-1796.
130. Charron P., Dubourg O., Desnos M., Isnard R., Hagege A., Bonne G., et al. Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes. Eur Heart J 1998, 19:139-145.
131. Peddy S.B., Vricella L.A., Crosson J.E., Oswald G.L., Cohn R.D., Cameron D.E., et al. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics 2006, 117:1830-1833.
132. Elliott K., Watkins H., Redwood C.S. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J Biol Chem 2000, 275:22069-22074.
133. Keren A., Syrris P., McKenna W.J. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med 2008, 5:158-168.
134. 2+ desensitization. J Mol Cell Cardiol 2003, 35:1421-1427.