Z-Disc Genes in Hypertrophic Cardiomyopathy. Stretching the Cardiomyopathies?

Journal of the American College of Cardiology

Volumn 55, Issue 11, 2010, Pages 1136-1138

  Bos, J Martijn ^a   Ackerman, Michael J ^a,b  

^a MAYO CLINIC   (United States)

^b Molecular Pharmacology and Experimental Therapeutics and the Divisions of Cardiovascular Diseases an   (United States)

Author keywords

actinin 2; genetics; hypertrophic cardiomyopathy

Indexed keywords

ALPHA ACTININ 2; PROTEIN; UNCLASSIFIED DRUG; Z DISC PROTEIN;

EDITORIAL; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HEART ATRIUM FIBRILLATION; HEART FAILURE; HEART MUSCLE CELL; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; PATHOGENESIS; PRIORITY JOURNAL; SUDDEN DEATH;

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; HUMANS; MICROFILAMENT PROTEINS; MICROFILAMENTS;

EID: 77649220747     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jacc.2009.12.016     Document Type: Editorial

References (22)

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 62 (1990) 999-1006
2. Jarcho J.A., McKenna W., Pare J.A., et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med 321 (1989) 1372-1378
3. Chiu C., Bagnall R.D., Ingles J., et al. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol 55 (2010) 1127-1135
4. 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 343 (2000) 1688-1696
5. Olson T.M., Doan T.P., Kishimoto N.Y., Whitby F.G., Ackerman M.J., and Fananapazir L. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol 32 (2000) 1687-1694
6. Olson T.M., Kishimoto N.Y., Whitby F.G., and Michels V.V. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol 33 (2001) 723-732
7. Gerull B., Gramlich M., Atherton J., et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 30 (2002) 201-204
8. Daehmlow S., Erdmann J., Knueppel T., et al. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun 298 (2002) 116-120
9. Geier C., Perrot A., Ozcelik C., et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation 107 (2003) 1390-1395
10. Mohapatra B., Jimenez S., Lin J.H., et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab 80 (2003) 207-215
11. Hayashi T., Arimura T., Itoh-Satoh M., et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol 44 (2004) 2192-2201
12. Vasile V.C., Will M.L., Ommen S.R., Edwards W.D., Olson T.M., and Ackerman M.J. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol Genet Metab 87 (2006) 169-174
13. Olson T.M., Michels V.V., Thibodeau S.N., Tai Y.S., and Keating M.T. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280 (1998) 750-752
14. Bos J.M., Poley R.N., Ny M., et al. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab 88 (2006) 78-85
15. Theis J.L., Bos J.M., Bartleson V.B., et al. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem Biophys Res Commun 351 (2006) 896-902
16. Xia H., Winokur S.T., Kuo W.L., Altherr M.R., and Bredt D.S. Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs. J Cell Biol 139 (1997) 507-515
17. Papa I., Astier C., Kwiatek O., et al. Alpha actinin-CapZ, an anchoring complex for thin filaments in Z-line. J Muscle Res Cell Motil 20 (1999) 187-197
18. Tsoporis J.N., Marks A., Kahn H.J., et al. Inhibition of norepinephrine-induced cardiac hypertrophy in s100beta transgenic mice. J Clin Invest 102 (1998) 1609-1616
19. Lu L., Zhang Q., Timofeyev V., et al. Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via alpha-actinin2. Circ Res 100 (2007) 112-120
20. Maruoka N.D., Steele D.F., Au B.P., et al. alpha-actinin-2 couples to cardiac Kv1.5 channels, regulating current density and channel localization in HEK cells. FEBS Lett 473 (2000) 188-194
21. Bhuiyan Z.A., van den Berg M.P., van Tintelen J.P., et al. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. Circulation 116 (2007) 1569-1576
22. Bowles N.E., Bowles K.R., and Towbin J.A. The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz 25 (2000) 168-175