Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca binding and myofilament contractility
نویسندگان
چکیده
Bo Liang, Franca Chung, Yang Qu, Dmitri Pavlov, Todd E. Gillis, Svetlana B. Tikunova, Jonathan P. Davis, and Glen F. Tibbits Cardiac Membrane Research Laboratory, Kinesiology, Simon Fraser University, Burnaby; Cardiovascular Sciences, Child & Family Research Institute, Vancouver, British Columbia; Integrative Biology, University of Guelph, Guelph, Ontario, Canada; and Department of Physiology and Cell Biology, The Ohio State University, Columbus, Ohio
منابع مشابه
Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca2+ binding and myofilament contractility.
The cardiac troponin C (cTnC) mutation, L29Q, has been found in a patient with familial hypertrophic cardiomyopathy. We previously showed that L29, together with neighboring residues, Asp2, Val28, and Gly30, plays an important role in determining the Ca(2+) affinity of site II, the regulatory site of mammalian cardiac troponin C (McTnC). Here we report on the Ca(2+) binding characteristics of L...
متن کاملFamilial Hypertrophic Cardiomyopathy Related Cardiac Troponin C L29Q Mutation Alters Length-Dependent Activation and Functional Effects of Phosphomimetic Troponin I*
The Ca(2+) binding properties of the FHC-associated cardiac troponin C (cTnC) mutation L29Q were examined in isolated cTnC, troponin complexes, reconstituted thin filament preparations, and skinned cardiomyocytes. While higher Ca(2+) binding affinity was apparent for the L29Q mutant in isolated cTnC, this phenomenon was not observed in the cTn complex. At the level of the thin filament in the p...
متن کاملTodd E . Gillis , Chris D . Moyes and Glen F . Tibbits affinity of site II 2
[PDF] [Full Text] [Abstract] , December 19, 2007; 32 (1): 16-27. Physiol. Genomics Todd E. Gillis, Christian R. Marshall and Glen F. Tibbits Functional and evolutionary relationships of troponin C [PDF] [Full Text] [Abstract] , January 1, 2007; . Cardiovasc Res Jonathan P. Davis and Svetlana B. Tikunova exchange with troponin C and cardiac muscle dynamics 2+ Ca [PDF] [Full Text] [Abstract...
متن کاملStructural kinetics of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes.
The key events in regulating cardiac muscle contraction involve Ca(2+) binding to and release from cTnC (troponin C) and structural changes in cTnC and other thin filament proteins triggered by Ca(2+) movement. Single mutations L29Q and G159D in human cTnC have been reported to associate with familial hypertrophic and dilated cardiomyopathy, respectively. We have examined the effects of these i...
متن کاملThe structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q
Familial hypertrophic cardiomyopathy (FHC) is characterized by severe abnormal cardiac muscle growth. The traditional view of disease progression in FHC is that an increase in the Ca(2+)-sensitivity of cardiac muscle contraction ultimately leads to pathogenic myocardial remodeling, though recent studies suggest this may be an oversimplification. For example, FHC may be developed through altered...
متن کامل