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Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism

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Official URL:https://doi.org/10.1172/JCI29174
PubMed:View item in PubMed
Creators Name:MacRae, C.A. and Birchmeier, W. and Thierfelder, L.
Journal Title:Journal of Clinical Investigation
Journal Abbreviation:J Clin Invest
Page Range:1825-1828
Date:July 2006
Keywords:Arrhythmogenic Right Ventricular Dysplasia, Desmoplakins, Gene Expression Regulation, Plakophilins, Signal Transduction, Wnt Proteins, beta Catenin, gamma Catenin, Animals
Abstract:Mutations in genes encoding desmosomal proteins have been identified as the major cause of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC), in which the right ventricle is 'replaced' by fibrofatty tissue, resulting in lethal arrhythmias. In this issue of the JCI, Garcia-Gras et al. demonstrate that cardiac-specific loss of the desmosomal protein desmoplakin is sufficient to cause nuclear translocation of plakoglobin, upregulation of adipogenic genes in vitro, and a shift from a cardiomyocyte to an adipocyte cell fate in vivo (see the related article beginning on page 2012). This evidence for potential Wnt/beta-catenin signaling defects sets the scene for a comprehensive exploration of the contributions of this pathway to the pathophysiology of ARVC, not only through perturbation of cardiac patterning and development, but also through effects on myocardial differentiation and physiology.
Publisher:American Society for Clinical Investigation (U.S.A.)
Item Type:Editorial

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