Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis | Zendy

Torsten B. Rasmussen | Zendy; Peter H. Nissen | Zendy; Johan Palmfeldt | Zendy; Katja Gehmlich | Zendy; Søren Dalager | Zendy; Uffe Birk Jensen | Zendy; Won Yong Kim | Zendy; Lene Heickendorff | Zendy; Henning Mølgaard | Zendy; Henrik Kjærulf Jensen | Zendy; Ulrik Baandrup | Zendy; Peter Bross | Zendy; Jens Mogensen | Zendy

Open Access

Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis

Author(s) -

Torsten B. Rasmussen,

Peter H. Nissen,

Johan Palmfeldt,

Katja Gehmlich,

Søren Dalager,

Uffe Birk Jensen,

Won Yong Kim,

Lene Heickendorff,

Henning Mølgaard,

Henrik Kjærulf Jensen,

Ulrik Baandrup,

Peter Bross,

Jens Mogensen

Publication year - 2014

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.113.000338

Subject(s) - haploinsufficiency , plakoglobin , missense mutation , biology , cardiomyopathy , arrhythmogenic right ventricular dysplasia , nonsense mutation , sudden death , mutation , desmoplakin , medicine , heart failure , genetics , phenotype , gene , wnt signaling pathway , catenin

Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac condition associated with ventricular arrhythmias, heart failure, and sudden death. The disease is most often caused by mutations in the desmosomal gene for plakophilin-2 (PKP2), which is expressed in both myocardial and epidermal tissue. This study aimed to investigate protein expression in myocardial tissue of patients with AC carrying PKP2 mutations and elucidate whether keratinocytes of the same individuals exhibited a similar pattern of protein expression.

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