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Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

Abstract:

We generated a transgenic mouse model expressing the apical hypertrophic cardiomyopathy-causing mutation ACTC E99K at 50% of total heart actin and compared it with actin from patients carrying the same mutation. The actin mutation caused a higher Ca(2+) sensitivity in reconstituted thin filaments measured by in vitro motility assay (2.3-fold for mice and 1.3-fold for humans) and in skinned papillary muscle. The mutation also abolished the change in Ca(2+) sensitivity normally linked to tropon...

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Publication status:
Published

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Publisher copy:
10.1074/jbc.m111.252320

Authors


Stuckey, DJ More by this author
Copeland, O More by this author
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Journal:
The Journal of biological chemistry
Volume:
286
Issue:
31
Pages:
27582-27593
Publication date:
2011-08-05
DOI:
EISSN:
1083-351X
ISSN:
0021-9258
URN:
uuid:c9aa561f-3f15-4a6c-b71d-07d7f3345f70
Source identifiers:
141407
Local pid:
pubs:141407

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