Abnormal contractile properties of muscle fibers expressing β-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

Journal of Clinical Investigation

Volumn 95, Issue 3, 1995, Pages 1409-1414

  Lankford, Edward B ^a   Epstein, Neal D ^b   Fananapazir, Lameh ^b   Sweeney, H Lee ^c  

^a HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^b NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONTRACTILE PROTEIN; MYOSIN HEAVY CHAIN;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE CONTRACTILITY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MUSCLE FORCE; PRIORITY JOURNAL;

EID: 0028967729     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI117795     Document Type: Article

References (32)

1. Maron, B. J., and S. E. Epstein. 1979. Hypertrophic cardiomyopathy: a discussion of nomenclature. Am. J. Cardiol. 43:1242-1244.
2. Fananapazir, L., D. McAreavey, and N. D. Epstein. 1994. Hypertrophic cardiomyopathy. In Cardiac Electrophysiology, From Cell to Bedside. D. Zipes and J. Jalife, editors. W. B. Saunders Co., Philadelphia. 769-779.
3. Fananapazir, L., A. C. Chang, S. E. Epstein, and D. McAreavey. 1992. Prognostic determinants in hypertrophic cardiomyopathy: prospective evaluation of a therapeutic strategy based on clinical, Holter, hemodynamic and electrophysiologic findings. Circulation. 86:730-740.
4. Dilsizian, V., R. O. Bonow, S. E. Epstein, and L. Fananapazir. 1993. Myocardial ischemia detected by thallium scintigraphy is frequently related to cardiac arrest in young patients with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 22:796-804.
5. Geisterfer-Lowrance, A. A. T., S. Kass, G. Tanigawa, H. P. Vosberg, W. McKenna, J. G. Seidman, and C. E. Seidman. 1990. A molecular basis for familial hypertrophic cardiomyopathy: a β cardiac myosin heavy chain missense mutation. Cell. 62:999-1006.
6. Watkins, H., A. Rosenzweig, D. S. Hwang, T. Levi, W. McKenna, C. E. Seidman, and J. G. Seidman. 1992. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N. Engl. J. Med. 326:1108-1114.
7. Schwartz, K., J. Beckmann, C. Dufour, L. Faure, F. Fougerousse, L. Carrier, C. Hengstenberg, D. Cohen, H. P. Vosberg, A. Sacrez, et al. 1992. Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families. Circ. Res. 71:3-8.
8. Epstein, N. D., L. Fananapazir, H. J. Lin, J. Mulvihill, R. White, J.-M. Lalouel, R. P. Lifton, A. W. Nienhuis, and M. Leppert. 1992. Evidence of genetic heterogeneity in five families with familial hypertrophic cardiomyopathy. Circulation. 85:635-647.
9. Arg→Gln mutation. Circulation. 86:345-352.
10. Fananapazir, L., and N. D. Epstein. 1994. Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations. Circulation. 89:22-32.
11. Thierfelder, L., C. MacRae, H. Watkins, J. Tomfohrde, M. Williams, W. McKenna, K. Bohm, G. Noeske, M. Schlepper, A. Bowcock, et al. 1993. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc. Natl. Acad. Sci. USA. 90:6270-6274.
12. Carrier, L., C. Hengstenberg, J. S. Beckmann, P. Guicheney, C. Dufour, J. Bercovici, E. Dausse, I. Berebi-Bertranf, C. Wisnewsky, D. Pulvenis, et al. 1993. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nature Genetics. 4:311-313.
13. Thierfelder, L., H. Watkins, C. MacRae, R. Lamas, W. McKenna, H.-P. Vosberg, J. G. Seidman, and C. E. Seidman. 1994. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 77:701-712.
14. Nishi, H., A. Kimura, H. Harada, H. Toshima, and T. Sasazuki. 1992. Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 188:379-387.
15. Coviello, D., P. Spirito, N. Bobola, R. Bertorelli, C. Vecchio, C. E. Seidman, and R. Ravazzolo. 1993. Analysis of the prevalence of 7 cardiac myosin heavy chain gene mutations in 13 Italian families with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 21:100a. (Abstr.)
16. Harada, H., A. Kimura, H. Nishi, Y. Koga, T. Sasazuki, and H. Toshima. 1992. Genetic analysis of hypertrophic cardiomyopathy. Circulation. 86:I-591a. (Abstr.)
17. Mares, A., A. J. Marian, Q. T. Yu, G. Z. Czermuszewicz, G. Gooch, T. Tapscott, D. Kelly, J. Towbin, B. Perryman, and R. Roberts. 1992. Genetic screening in 75 families with hypertrophic cardiomyopathy show missense mutations the most common genetic defect. Circulation. 86:I-228a. (Abstr.)
18. Anan, R., G. Gottfried, L. Thierfelder, H. Watkins, W. J. McKenna, S. Solomon, C. Vecchio, H. Shono, S. Nakao, H. Tanaka, et al. 1994. Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J. Clin. Invest. 93:280-285.
19. Cuda, G., L. Fananapazir, W. S. Zhu, J. R. Sellers, and N. D. Epstein. 1993. Skeletal muscle expression and abnormal function of β-myosin in hypertrophic cardiomyopathy. J. Clin. Invest. 91:2861-2865.
20. Yu, Q. T., J. Ifegwu, A. J. Marlan, A. Mares, R. Hill, M. B. Perryman, L. L. Bachinski, and R. Roberts. 1993. Hypertrophic cardiomyopathy mutation is expressed in messenger RNA of skeletal as well as cardiac muscle. Circulation. 87:406-412.
21. Eastwood, A. B., D. S. Wood, K. L. Bock, and M. M. Sorenson. 1979. Chemically skinned mammalian skeletal muscle. I. The structure of skinned rabbit psoas. Tissue & Cell. 11:553-566.
22. Brenner, B. 1983. Technique for stabilizing the striation pattern in maximally calcium-activated skinned rabbit psoas fibers. Biophys. J. 41:99-102.
23. Edman, K. A. P. 1979. The velocity of unloaded shortening and its relation to sarcomere length and isometric force in vertebrate muscle fibres. J. Physiol. (Lond.). 291:143-159.
24. Press, W. H., S. A. Teukolsky, W. T. Vetterling, and B. P. Flannery. 1992. Numerical Recipes in C. Second ed. Cambridge University Press. Cambridge. 994 pp.
25. LaFramboise, W. A., M. J. Daood, R. D. Guthrie, P. Moretti, S. Schiaffino, and M. Ontell. 1990. Electrophoretic separation and immunological identification of type 2X myosin heavy chain in rat skeletal muscle. Biochim. Biophys. Acta. 1035:109-112.
26. Sweeney, H. L., and M. J. Kushmerick. 1985. Phosphorylation of myosin LC-2 in permeabilized rabbit psoas fibers. Am. J. Physiol. 249:C362-C365.
27. Fananapazir, L., M. C. Dalakas, F. Cyran, G. Cohn, and N. D. Epstein. 1993. Missense mutations in the β-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc. Natl. Acad. Sci. USA. 90:3993-3997.
28. Ford, L. E., A. F. Huxley, and R. M. Simmons. 1981. The relation between stiffness and filament overlap in stimulated frog muscle fibres. J. Physiol. (Lond.). 311:219-249.
29. Rayment, I., W. R. Rypniewski, K. Schmidt-Base, R. Smith, D. R. Tomchick, M. M. Benning, D. A. Winkelmann, G. Wesenberg, and H. M. Holden. 1993. Three-dimensional structure of myosin subfragment-1: a molecular motor. Science (Wash. DC). 261:50-58.
30. Lowey, S., G. S. Waller, and K. M. Trybus. 1993. Skeletal muscle myosin light chains are essential for physiological speeds of shortening. Nature (Lond.). 365:454-456.
31. Rayment, I., H. M. Holden, M. Whittaker, C. B. Yohn, M. Lorenz, K. C. Holmes, and R. A. Milligan. 1993. Structure of the actin-myosin complex and its implications for muscle contraction. Science (Wash. DC). 261:58-65.
32. Kramer, C. M., N. Reichek, V. A. Ferrari, T. Theobald, J. Dawson, and L. Axel. 1994. Regional heterogeneity of function in hypertrophic cardiomyopathy. Circulation. 90:186-194.