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MeSH Review:

Cardiomyopathy, Hypertrophic, Familial

Szczesna, D. et al., Palmer, B.M. et al., Morimoto, S. et al., Havndrup, O. et al., Welikson, R.E. et al., et al.

Morimoto, Lu, Harada, Takahashi-Yanaga, Minakami, Ohta, Sasaguri, Ohtsuki, Mogensen, Klausen, Pedersen, Egeblad, Bross, Kruse, Gregersen, Hansen, Baandrup, Borglum, Szczesna-Cordary, Guzman, Zhao, Hernandez, Wei, Diaz-Perez, Palmer, Fishbaugher, Schmitt, Wang, Alpert, Seidman, Seidman, VanBuren, Maughan, Carrier, Bonne, Bährend, Yu, Richard, Niel, Hainque, Cruaud, Gary, Labeit, Bouhour, Dubourg, Desnos, Hagège, Trent, Komajda, Fiszman, Schwartz,

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Disease relevance of Cardiomyopathy, Hypertrophic, Familial

A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice [1].
More than 40 missense mutations in the cardiac myosin heavy chain (MHC) gene and several mutations in the two myosin light chains cause a dominantly inherited heart disease called familial hypertrophic cardiomyopathy [2].

High impact information on Cardiomyopathy, Hypertrophic, Familial

In this study, we purified the 30-kDa protein from heart extract and identified it as cardiac troponin I (cTnI), encoded by a gene in which mutations can cause familial hypertrophic cardiomyopathy (HCM) [3].
A mouse model of familial hypertrophic cardiomyopathy (FHC) was generated by the introduction of an Arg 403 --> Gln mutation into the alpha cardiac myosin heavy chain (MHC) gene [4].
We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC) [5].
Multiple mutations in cardiac troponin T (cTnT) can cause familial hypertrophic cardiomyopathy (FHC) [6].
In contrast, a deletion mutation Delta E160 in cTnT that causes familial hypertrophic cardiomyopathy (HCM) decreased the free Ca(2+) concentrations required for force generation, just as in the case of the other HCM-causing mutations in cTnT [7].

Biological context of Cardiomyopathy, Hypertrophic, Familial

The gene encoding cardiac MyBP-C (MYBPC3) in humans is located on chromosome 11p11.2, and mutations have been identified in this gene in unrelated families with familial hypertrophic cardiomyopathy (FHC) [8].
The kinetic effects of the cardiac myosin point mutations R403Q and R453C, which underlie lethal forms of familial hypertrophic cardiomyopathy (FHC), were assessed using isolated myosin and skinned strips taken from heterozygous (R403Q/+ and R453C/+) male mouse hearts [9].
BACKGROUND: Transgenic mouse models expressing a missense mutation (R92Q) or a splice donor site mutation (trunc) in the cardiac troponin T (cTnT) model familial hypertrophic cardiomyopathy (FHC) in humans [10].

Anatomical context of Cardiomyopathy, Hypertrophic, Familial

To study the effect of troponin (Tn) T mutations that cause familial hypertrophic cardiomyopathy (FHC) on cardiac muscle contraction, wild-type, and the following recombinant human cardiac TnT mutants were cloned and expressed: I79N, R92Q, F110I, E163K, R278C, and intron 16(G(1) --> A) (In16) [11].
Altered signaling surrounding the C-lobe of cardiac troponin C in myofilaments containing an alpha-tropomyosin mutation linked to familial hypertrophic cardiomyopathy [12].

Gene context of Cardiomyopathy, Hypertrophic, Familial

Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction [13].
OBJECTIVE: An examination of the genetic background and phenotypic presentation of familial hypertrophic cardiomyopathy (FHC) with respect to specific mutations in the MYH7-gene encoding the cardiac beta-myosin heavy chain [14].
The effects of S185F are compared with those of two mutations in residues 175 and 180 of human alpha-tropomyosin 1 which cause familial hypertrophic cardiomyopathy (HCM) [15].
Multiple mutations within the gene for cardiac MyBP-C, one of three known isoforms, have been linked to familial hypertrophic cardiomyopathy [16].
Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease caused by mutations in all of the major sarcomeric proteins, including the ventricular myosin regulatory light-chain (RLC) [17].

References

A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice. Prabhakar, R., Boivin, G.P., Grupp, I.L., Hoit, B., Arteaga, G., Solaro, J.R., Wieczorek, D.F. J. Mol. Cell. Cardiol. (2001) [Pubmed]
Cardiac myosin heavy chains lacking the light chain binding domain cause hypertrophic cardiomyopathy in mice. Welikson, R.E., Buck, S.H., Patel, J.R., Moss, R.L., Vikstrom, K.L., Factor, S.M., Miyata, S., Weinberger, H.D., Leinwand, L.A. Am. J. Physiol. (1999) [Pubmed]
Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice. Okazaki, T., Tanaka, Y., Nishio, R., Mitsuiye, T., Mizoguchi, A., Wang, J., Ishida, M., Hiai, H., Matsumori, A., Minato, N., Honjo, T. Nat. Med. (2003) [Pubmed]
A mouse model of familial hypertrophic cardiomyopathy. Geisterfer-Lowrance, A.A., Christe, M., Conner, D.A., Ingwall, J.S., Schoen, F.J., Seidman, C.E., Seidman, J.G. Science (1996) [Pubmed]
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. Mogensen, J., Klausen, I.C., Pedersen, A.K., Egeblad, H., Bross, P., Kruse, T.A., Gregersen, N., Hansen, P.S., Baandrup, U., Borglum, A.D. J. Clin. Invest. (1999) [Pubmed]
Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. Tardiff, J.C., Hewett, T.E., Palmer, B.M., Olsson, C., Factor, S.M., Moore, R.L., Robbins, J., Leinwand, L.A. J. Clin. Invest. (1999) [Pubmed]
Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Morimoto, S., Lu, Q.W., Harada, K., Takahashi-Yanaga, F., Minakami, R., Ohta, M., Sasaguri, T., Ohtsuki, I. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Carrier, L., Bonne, G., Bährend, E., Yu, B., Richard, P., Niel, F., Hainque, B., Cruaud, C., Gary, F., Labeit, S., Bouhour, J.B., Dubourg, O., Desnos, M., Hagège, A.A., Trent, R.J., Komajda, M., Fiszman, M., Schwartz, K. Circ. Res. (1997) [Pubmed]
Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. Palmer, B.M., Fishbaugher, D.E., Schmitt, J.P., Wang, Y., Alpert, N.R., Seidman, C.E., Seidman, J.G., VanBuren, P., Maughan, D.W. Am. J. Physiol. Heart Circ. Physiol. (2004) [Pubmed]
Hypertrophy, fibrosis, and sudden cardiac death in response to pathological stimuli in mice with mutations in cardiac troponin T. Maass, A.H., Ikeda, K., Oberdorf-Maass, S., Maier, S.K., Leinwand, L.A. Circulation (2004) [Pubmed]
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. Szczesna, D., Zhang, R., Zhao, J., Jones, M., Guzman, G., Potter, J.D. J. Biol. Chem. (2000) [Pubmed]
Altered signaling surrounding the C-lobe of cardiac troponin C in myofilaments containing an alpha-tropomyosin mutation linked to familial hypertrophic cardiomyopathy. Burkart, E.M., Arteaga, G.M., Sumandea, M.P., Prabhakar, R., Wieczorek, D.F., Solaro, R.J. J. Mol. Cell. Cardiol. (2003) [Pubmed]
Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. Muthuchamy, M., Pieples, K., Rethinasamy, P., Hoit, B., Grupp, I.L., Boivin, G.P., Wolska, B., Evans, C., Solaro, R.J., Wieczorek, D.F. Circ. Res. (1999) [Pubmed]
A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy. Havndrup, O., Bundgaard, H., Andersen, P.S., Larsen, L.A., Vuust, J., Kjeldsen, K., Christiansen, M. Scand. Cardiovasc. J. (2000) [Pubmed]
A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila. Naimi, B., Harrison, A., Cummins, M., Nongthomba, U., Clark, S., Canal, I., Ferrus, A., Sparrow, J.C. Mol. Biol. Cell (2001) [Pubmed]
Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C. Witt, C.C., Gerull, B., Davies, M.J., Centner, T., Linke, W.A., Thierfelder, L. J. Biol. Chem. (2001) [Pubmed]
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. Szczesna-Cordary, D., Guzman, G., Zhao, J., Hernandez, O., Wei, J., Diaz-Perez, Z. J. Cell. Sci. (2005) [Pubmed]

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