Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies

Circulation

Volumn 107, Issue 10, 2003, Pages 1344-1346

  Watkins, Hugh ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

Cardiomyopathy; Editorials; Genetics; Molecular biology; Myocardium

Indexed keywords

DYSTROPHIN; HOMEODOMAIN PROTEIN; LIM PROTEIN;

EDITORIAL; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HEART DILATATION; HEART MUSCLE CELL; HEREDITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUSCLE PROTEINS; MUTATION, MISSENSE; MYOCARDIAL CONTRACTION; SARCOMERES;

EID: 0037453073     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.0000057860.52586.9C     Document Type: Editorial

References (22)

1. 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;77:701-712.
2. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104: 557-567.
3. Franz WM. Muller OJ, Katus HA. Cardiomyopathies: from genetics to the prospect of treatment. Lancet. 2001;358:1627-1637.
4. Redwood CS, Moolman-Smook JC, Watkins H. Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy. Cardiovasc Res. 1999;44:20-36.
5. Sweeney HL, Feng HS, Yang Z, et al. Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function. Proc Natl Acad Sci U S A. 1998;95: 14406-14410.
6. Homsher E, Lee DM, Morris C, et al. Regulation of force and unloaded sliding speed in single thin filaments: effects of regulatory proteins and calcium. J Physiol. 2000;524:233-243.
7. Bonne G, Carrier L, Richard P, et al. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res. 1998;83:580-593.
8. 2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet. 2001;10:1215-1220.
9. Spindler M, Saupe KW, Christe ME, et al. Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. J Clin Invest. 1998;101:1775-183.
10. Montgomery DE, Tardiff JC, Chandra M. Cardiac troponin T mutations: correlation between the type of mutation and the nature of myofilament dysfunction in transgenic mice. J Physiol. 2001;536:583-592.
11. Gollob MH, Green MS, Tang AS, et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001;344:1823-1831.
12. Arad M, Benson DW, Perez-Atayde AR, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002;109:357-362,
13. Gollob MH, Seger JJ, Gollob TN, et al. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation. 2001;104:3030-3033.
14. Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002;30:201-204.
15. Geier C, Perrot A, Ozcelik C, et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation. 2003;107:1390-1395.
16. Arber S, Halder G, Caroni P. Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation. Cell. 1994; 79:221-231.
17. Flick MJ, Konieczny SF. The muscle regulatory and structural protein MLP is a cytoskeletal binding partner of betaI-spectrin. J Cell Sci. 2000;113:1553-1564.
18. Arber S, Hunter JJ, Ross J Jr, et al. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell. 1997;88:393-403.
19. MacRae CA. Genetics and dilated cardiomyopathy: limitations of candidate gene strategies. Eur Heart J. 2000;21:1817-1819.
20. McConnell BK, Jones KA, Fatkin D, et al. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J Clin Invest. 1999; 104:1235-1244.
21. Blair E, Redwood C, de Jesus Oliveira M, et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res. 2002;90:263-269.
22. Su Z, Yao A, Zubair I, et al. Effects of deletion of muscle LIM protein on myocyte function. Am J Physiol Heart Circ Physiol. 2001;280: H2665-H2673.