A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions.

ABSTRACT:

Background

Cellular adhesion mediated by cardiac desmosomes is a prerequisite for proper electric propagation mediated by gap junctions in the myocardium. However, the molecular principles underlying this interdependence are not fully understood.

Objective

The purpose of this study was to determine potential causes of right ventricular conduction abnormalities in a patient with borderline diagnosis of arrhythmogenic right ventricular cardiomyopathy.

Methods

To assess molecular changes, the patient's myocardial tissue was analyzed for altered desmosomal and gap junction (connexin43) protein levels and localization. In vitro functional studies were performed to characterize the consequences of the desmosomal mutations.

Results

Loss of plakoglobin signal was evide

SUBMITTER: Gehmlich K 

PROVIDER: S-EPMC3085091 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature