Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate With a Brugada Syndrome Phenotype | Zendy

Marina Cerrone | Zendy; Xianming Lin | Zendy; Mingliang Zhang | Zendy; Esperanza Agulló-Pascual | Zendy; Anna Pfenniger | Zendy; Halina Chkourko Gusky | Zendy; Valeria Novelli | Zendy; Changsung Kim | Zendy; Tiara Tirasawadichai | Zendy; Daniel P. Judge | Zendy; Eli Rothenberg | Zendy; Huei-Sheng Vincent Chen | Zendy; Carlo Napolitano | Zendy; Silvia G. Priori | Zendy; Mario Delmar | Zendy

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Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate With a Brugada Syndrome Phenotype

Author(s) -

Marina Cerrone,

Xianming Lin,

Mingliang Zhang,

Esperanza Agulló-Pascual,

Anna Pfenniger,

Halina Chkourko Gusky,

Valeria Novelli,

Changsung Kim,

Tiara Tirasawadichai,

Daniel P. Judge,

Eli Rothenberg,

Huei-Sheng Vincent Chen,

Carlo Napolitano,

Silvia G. Priori,

Mario Delmar

Publication year - 2013

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.113.003077

Subject(s) - brugada syndrome , intercalated disc , medicine , cardiomyopathy , arrhythmogenic right ventricular dysplasia , missense mutation , phenotype , sodium channel , mutation , cardiology , endocrinology , microbiology and biotechnology , genetics , biology , gene , sodium , heart failure , chemistry , intracellular , organic chemistry , gap junction

Brugada syndrome (BrS) primarily associates with the loss of sodium channel function. Previous studies showed features consistent with sodium current (INa) deficit in patients carrying desmosomal mutations, diagnosed with arrhythmogenic cardiomyopathy (or arrhythmogenic right ventricular cardiomyopathy). Experimental models showed correlation between the loss of expression of desmosomal protein plakophilin-2 (PKP2) and reduced INa. We hypothesized that PKP2 variants that reduce INa could yield a BrS phenotype, even without overt structural features characteristic of arrhythmogenic right ventricular cardiomyopathy.

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