Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: The cause of dilated cardiomyopathy: Genetic or acquired? (genetic-side)

Circulation Journal

Volumn 75, Issue 7, 2011, Pages 1756-1765

  Kimura, Akinori ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Cardiomyopathy; Dilated cardiomyopathy; Genetics; Stiffness; Stress

Indexed keywords

ARTICLE; CONGESTIVE CARDIOMYOPATHY; DISEASE PREDISPOSITION; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEART MUSCLE CELL; HEREDITY; HUMAN; IMMUNE SYSTEM; MORBIDITY; NUCLEAR LAMINA; PATHOGENESIS; SARCOLEMMA;

CALCIUM-BINDING PROTEINS; CARDIOMYOPATHY, DILATED; DISEASE SUSCEPTIBILITY; DYSTROPHIN; HUMANS; MUSCLE PROTEINS; MUTATION; NUCLEAR PROTEINS; PROTEIN KINASES; REPRESSOR PROTEINS; TROPONIN T;

EID: 79959741856     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-11-0368     Document Type: Article

References (74)

1. Maron BJ, Towbin JA, 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.
2. Towbin JA, Bowles NE. The failing heart. Nature 2002; 415: 227-233.
3. Ahmad F, Seidman JG, Seidman CE. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet 2006; 6: 185-216.
4. Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, et al. X-linked dilated cardiomyopathy: Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993; 87: 1854-1865.
5. Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, et al. Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity: Heart Muscle Disease Study Group. J Am Coll Cardiol 1999; 34: 181-190.
6. Kimura A. Molecular etiology and pathogenesis of hereditary cardiomyopathy. Circ J 2008; 72(Suppl): A-38-A-48.
7. Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, et al. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ Res 2001; 89: 1065-1072.
8. Haghighi K, Kolokathis F, Gramolini AO, Waggoner JR, Pater L, Lynch RA, et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci USA 2006; 103: 1388-1393.
9. Ohte N, Miyoshi I, Sane DC, Little WC. Zebrafish with antisenseknockdown of cardiac troponin C as a model of hereditary dilated cardiomyopathy. Circ J 2009; 73: 1595-1596.
10. Ho YL, Lin YH, Tsai WY, Hsieh FJ, Tsai HJ. Conditional antisense- knockdown of zebrafish cardiac troponin C as a new animal model for dilated cardiomyopathy. Circ J 2009; 73: 1691-1697.
11. Geisterfer-Lowrance AAT, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, et al. A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation. Cell 1990; 62: 999-1006.
12. Morimoto S, Lu QW, 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.
13. Du CK, Morimoto S, Nishii K, Minakami R, Ohta M, Tadano N, et al. Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation. Circ Res 2007; 101: 185-194.
14. Yanaga F, Morimoto S, Ohtsuki I. Ca2+ 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.
15. Miller T, Szczesna D, Housmans PR, Zhao J, de Freitas F, Gomes AV, 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.
16. Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, et al. Familial dilated cardiomyopathy caused by an α -tropomyosin mutation: The distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol 2010; 55: 320-329.
17. Robinson P, Griffiths PJ, Watkins H, Redwood CS. Dilated and hypertrophic cardiomyopathy mutations in troponin and α-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. Circ Res 2007; 101: 1266-1273.
18. Chang AN, Harada K, Ackerman MJ, Potter JD. Functional consequences of hypertrophic and dilated cardiomyopathy-causing mutations in α-tropomyosin. J Biol Chem 2005; 280: 34343-34349.
19. Szczesna-Cordary D, Guzman G, Ng SS, Zhao J. Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction. J Biol Chem 2004; 279: 3535-3542.
20. van Dijk SJ, Dooijes D, dos Remedios C, Michels M, Lamers JM, Winegrad S, et al. Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: Haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. Circulation 2009; 119: 1473-1483.
21. 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.
22. 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.
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. Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, et al. The cardiac mechaical stretch sensor machinery involves a Z-disk complex that is defective in a subset of human dilated cardiomyopathy. Cell 2002; 111: 943-955.
25. Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab 2003; 80: 207-215.
26. Knöll R, Kostin S, Klede S, Savvatis K, Klinge L, Stehle I, et al. A common MLP (muscle LIM protein) variant is associated with cardiomyopathy. Circ Res 2010; 106: 695-704.
27. Arber S, Hunter JJ, Ross J Jr, Hongo M, Sansig G, Borg J, et al. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell 1997; 88: 393-403.
28. Cazorla O, Wu Y, Irving TC, Granzier H. Titin-based modulation of calcium sensitivity of active tension in mouse skinned cardiac myocytes. Circ Res 2001; 88: 1028-1035.
29. Fujita H, Labeit D, Gerull B, Labeit S, Granzier HL. Titin isoformdependent effect of calcium on passive myocardial tension. Am J Physiol Heart Circ Physiol 2004; 287: H2528-H2534.
30. Fuchs F, Martyn DA. Length-dependent Ca2+ activation in cardiac muscle: Some remaining questions. J Muscle Res Cell Motil 2005; 26: 199-212.
31. Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation 2002; 105: 431-437.
32. Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 2007; 115: 1244-1251.
33. Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, et al. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res 2008; 77: 118-125.
34. Purevjav E, Varela J, Morgado M, Kearney DL, Li H, Taylor MD, et al. Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. J Am Coll Cardiol 2010; 56: 1493-1502.
35. Zhou Q, Ruiz-Lozano P, Martone ME, Chen J. Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C. J Biol Chem 1999; 274: 19807-19813.
36. Frey N, Richardson JA, Olson EN. Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. Proc Natl Acad Sci USA 2000; 97: 14632-14637.
37. Heineke J, Molkentin JD. Regulation of cardiac hypertrophy by intracellular signalling pathways. Nat Rev Mol Cell Biol 2006; 7: 589-600.
38. Heineke J, Ruetten H, Willenbockel C, Gross SC, Naguib M, Schaefer A, et al. Attenuation of cardiac remodeling after myocardial infarction by muscle LIM protein-calcineurin signaling at the sarcomeric Z-disc. Proc Natl Acad Sci USA 2005; 102: 1655-1660.
39. Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, et al. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem 2004; 279: 6746-6752.
40. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 2003; 42: 2014-2027.
41. Arimura T, Inagaki N, Hayashi T, Shichi D, Sato A, Hinohara K, et al. Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. Cardiovasc Res 2009; 83: 80-88.
42. Arimura T, Nakamura T, Hiroi S, Satoh M, Takahashi M, Ohbuchi N, et al. Characterization of the human nebulette gene: A polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy. Hum Genet 2000; 107: 440-451.
43. Aihara Y, Kurabayashi M, Saito Y, Ohyama Y, Tanaka T, Takeda S, et al. Cardiac ankyrin repeat protein is a novel marker of cardiac hypertrophy: Role of M-CAT element within the promoter. Hypertension 2000; 36: 48-53.
44. Witt SH, Labeit D, Granzier H, Labeit S, Witt CC. Dimerization of the cardiac ankyrin protein CARP: Implications for MARP titinbased signaling. J Muscle Res Cell Motil 2006; 262: 1-8.
45. Moulik M, Vatta M, Witt SH, Arola AM, Murphy RT, McKenna WJ, et al. ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. J Am Coll Cardiol 2009; 54: 325-333.
46. Matsumoto Y, Hayashi T, Inagaki N, Takahashi M, Hiroi S, Nakamura T, et al. Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. J Muscle Res Cell Motil 2005; 26: 367-374.
47. Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, et al. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun 2006; 342: 379-386.
48. Arimura T, Hayashi T, Matsumoto Y, Shibata H, Hiroi S, Nakamura T, et al. Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy. Biochem Biophys Res Commun 2007; 357: 162-167.
49. Lange S, Auerbach D, McLoughlin P, Perriard E, Schäfer BW, Perriard JC, et al. Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2. J Cell Sci 2002; 115: 4925-4936.
50. Martin JL, Mestril R, Hilal-Dandan R, Brunton LL, Dillmann WH. Small heat shock proteins and protection against ischemic injury in cardiac myocytes. Circulation 1997; 96: 4343-4348.
51. Golenhofen N, Ness W, Koob R, Htun P, Schaper W, Drenckhahn D. Ischemia-induced phosphorylation and translocation of stress protein alpha B-crystallin to Z lines of myocardium. Am J Physiol 1998; 274: H1457-H1464.
52. Wulff K, Parrish JE, Herrmann FH, Wehnert M. Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. Hum Mutat 1997; 9: 526-530.
53. Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999; 21: 285-288.
54. Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000; 66: 1407-1412.
55. Vohanka S, Vytopil M, Bednarik J, Lukas Z, Kadanka Z, Schildberger J, et al. A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. Neuromusc Disord 2001; 11: 411-413.
56. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999; 341: 1715-1724.
57. Decostre V, Ben Yaou R, Bonne G. Laminopathies affecting skeletal and cardiac muscles: Clinical and pathophysiological aspects. Acta Myol 2005; 24: 104-109.
58. Worman HJ, Bonne G. "Laminopathies": A wide spectrum of human diseases. Exp Cell Res 2007; 313: 2121-2133.
59. Muchir A, Pavlidis P, Decostre V, Herron AJ, Arimura T, Bonne G, et al. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest 2007; 117: 1282-1293.
60. Arimura T, Sato R, Machida N, Bando H, Zhan DY, Morimoto S, et al. Improvement of left ventricular dysfunction and of survival prognosis of dilated cardiomyopathy by administration of calcium sensitizer SCH00013 in a mouse model. J Am Coll Cardiol 2010; 55: 1503-1505.
61. Nakano N, Hori H, Abe M, Shibata H, Arimura T, Sasaoka T, et al. Interaction of BMP10 with Tcap may modulate the course of hypertensive cardiac hypertrophy. Am J Physiol Heart Card Physiol 2007; 293: H3396-H3403.
62. Neuhaus H, Rosen V, Thies R. Heart specific expression of mouse BMP-10 a novel member of the TGF-beta superfamily. Mech Dev 1999; 80: 181-184.
63. Azuma J, Nonen S. Chronic heart failure: Beta-blockers and pharmacogenetics. Eur J Clin Pharmacol 2009; 65: 3-17.
64. Muthumala A, Drenos F, Elliott PM, Humphries SE. Role of beta adrenergic receptor polymorphisms in heart failure: Systematic review and meta-analysis. Eur J Heart Fail 2008; 10: 3-13.
65. Leineweber K, Heusch G. β1- and β2-adrenoceptor polymorphisms and cardiovascular diseases. Br J Pharmacol 2009; 158: 61-69.
66. Kitsios G, Zintzaras E. Genetic variation associated with ischemic heart failure: A HuGE review and meta-analysis. Am J Epidemiol 2007; 166: 619-633.
67. Nishi H, Koga Y, Koyanagi T, Harada H, Imaizumi T, Toshima H, et al. DNA typing of HLA class II genes in Japanese patients with dilated cardiomyopathy. J Mol Cell Cardiol 1995; 27: 2385-2392.
68. Shichi D, Kikkawa EF, Ota M, Katsuyama Y, Kimura A, Matsumori A, et al. The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICBMICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy. Tissue Antigens 2005; 66: 200-208.
69. Deng L, Mariuzza RA. Structural basis for recognition of MHC and MHC-like ligands by natural killer cell receptors. Semin Immunol 2006; 18: 159-166.
70. Shichi D, Matsumori A, Naruse TK, Inoko H, Kimura A. HLA-DPβ chain may confer the susceptibility to hepatitis C virus-associated hypertrophic cardiomyopathy. Int J Immunogenet 2008; 35: 37-43.
71. Limas CJ. Autoimmunity in dilated cardiomyopathy and the major histocompatibility complex. Int J Cardiol 1996; 54: 113-116.
72. Caforio AL, Mahon NJ, Tona F, McKenna WJ. Circulating cardiac autoantibodies in dilated cardiomyopathy and myocarditis: Pathogenetic and clinical significance. Eur J Heart Fail 2002; 4: 411-417.
73. Limas CJ, Limas C. β-adrenoceptor antibodies and genetics in dilated cardiomyopathy: An overview and review. Eur Heart J 1991; 12: D175-D177.
74. Yoshikawa T. Contribution of acquired factors to the pathogenesis of dilated cardiomyopathy: The cause of dilated cardiomyopathy: Genetic or acquired? (Acquired-Side) Circ J 2011; 75: 1766-1773.