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Journal of Biomedicine and Biotechnology
Volume 2010, Article ID 350706, 9 pages
Review Article

Cardiac Troponin Mutations and Restrictive Cardiomyopathy

Department of Molecular and Cellular Pharmacology, Miller School of Medicine, University of Miami, Room 6085A, RMSB, 1600 NW 10th Avenue, Miami, FL 33136, USA

Received 13 November 2009; Accepted 22 February 2010

Academic Editor: Aikaterini Kontrogianni-Konstantopoulos

Copyright © 2010 Michelle S. Parvatiyar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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, -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 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.