Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.

• Authors: Brenda Gerull, Arnd Heuser, Thomas Wichter, Matthias Paul, Craig T Basson, Deborah A McDermott, Bruce B Lerman, Steve M Markowitz, Patrick T Ellinor, Calum A MacRae, Stefan Peters, Katja S Grossmann, Jörg Drenckhahn, Beate Michely, Sabine Sasse-Klaassen, Walter Birchmeier, Rainer Dietz, Günter Breithardt, Eric Schulze-Bahr, Ludwig Thierfelder
• Journal: Nature genetics (Nat Genet) Vol. 36 Issue 11 Pg. 1162-4 (Nov 2004) ISSN: 1061-4036 [Print] United States
• PMID: 15489853 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• PKP2 protein, human
• Plakophilins
• Proteins

Topics

• Adolescent
• Arrhythmogenic Right Ventricular Dysplasia (genetics)
• Desmosomes
• Female
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Plakophilins
• Proteins (genetics)