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Cardiac Troponin Mutations and Restrictive Cardiomyopathy

Title: Cardiac Troponin Mutations and Restrictive Cardiomyopathy.
Name(s): Parvatiyar, Michelle, author
Pinto, Jose, author
Dweck, David, author
Potter, James, author
Type of Resource: text
Genre: Text
Issuance: serial
Date Issued: 2010
Physical Form: computer
online resource
Extent: 1 online resource
Language(s): English
Abstract/Description: Mutations in sarcomeric proteins have recently been established as heritable causes of Restrictive Cardiomyopathy (RCM). RCM is clinically characterized as a defect in cardiac diastolic function, such as, impaired ventricular relaxation, reduced diastolic volume and increased end-diastolic pressure. To date, mutations have been identified in the cardiac genes for desmin, alpha-actin, troponin I and troponin T. Functional studies in skinned muscle fibers reconstituted with troponin mutants have established phenotypes consistent with the clinical findings which include an increase in myofilament Ca(2+) sensitivity and basal force. Moreover, when RCM mutants are incorporated into reconstituted myofilaments, the ability to inhibit the ATPase activity is reduced. A majority of the mutations cluster in specific regions of cardiac troponin and appear to be mutational "hot spots". This paper highlights the functional and clinical characteristics of RCM linked mutations within the troponin complex.
Identifier: FSU_migr_biomed_faculty_publications-0053 (IID), 10.1155/2010/350706 (DOI)
Keywords: cardiomyopathy, mice, transgenic, mutation, protein isoforms, Troponin C, disease models
Uncontrolled subjects: Animals, Cardiomyopathy, Restrictive, Disease Models, Animal, Humans, Mice, Mice, Transgenic, Mutation, Protein Isoforms, Troponin C
Note: Originally published in Journal'>">Journal of Biomedicine and Biotechnology.
Citation: Parvatiyar MS, Pinto JR, Dweck D, & Potter JD. (2010). Cardiac troponin mutations and restrictive cardiomyopathy. J Biomed Biotechnol, 2010:350706. doi: 10.1155/2010/350706.
Subject(s): Amino acids
Diagnosis, Laboratory -- Equipment and supplies
Animals -- Diseases
Cardiovascular system -- Diseases
Medical sciences
Persistent Link to This Record:
Host Institution: FSU
Is Part of Series: Department of Biomedical Sciences Faculty Publications.
Is Part Of: Journal of Biomedicine & Biotechnology.
Issue: 2010

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Parvatiyar, M., Pinto, J., Dweck, D., & Potter, J. (2010). Cardiac Troponin Mutations and Restrictive Cardiomyopathy. Journal Of Biomedicine & Biotechnology. Retrieved from