Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by life-threatening ventricular arrhythmias and fibrofatty replacement of the cardiac tissue. Desmosomes are prominent cell-cell junctions found in a variety of tissues that resist mechanical stress, including the heart, and recruit the intermediate filament cytoskeleton to sites of cell-cell contact. Mutations in several desmosomal components including plakophilin-2 have been identified in ARVC patients; however, the molecular interactions disrupted by plakophilin-2 mutations are currently unknown. To understand the pathological basis of ARVC, the authors analyzed desmosome assembly and stability in epithelial cell lines expressing mutants of plakophilin-2 found in ARVC patients. Mutant plakophilin-2 proteins were unable to disrupt established desmosomes when expressed in an E-cadherinexpressing epithelial cell model; however, they were unable to initiate de novo assembly of desmosomes in an N-cadherinexpressing epithelial cell model. These studies expand our understanding of desmosome assembly and dynamics.
Original language | English (US) |
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Pages (from-to) | 15-27 |
Number of pages | 13 |
Journal | Cell Communication and Adhesion |
Volume | 16 |
Issue number | 1-3 |
DOIs | |
State | Published - 2009 |
Keywords
- ARVC
- Desmosome
- Plakophilin-2
ASJC Scopus subject areas
- Clinical Biochemistry
- Cell Biology