Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy
作者： Jere Paavola , Simon Schliffke , Sandro Rossetti , Ivana Y.-T. Kuo , Shiaulou Yuan
DOI: 10.1016/J.YJMCC.2013.01.015
关键词: Endocrinology 、 PKD1 、 Dilated cardiomyopathy 、 Ryanodine receptor 2 、 Heart failure 、 Polycystin 2 、 Internal medicine 、 Idiopathic dilated cardiomyopathy 、 Cardiomyopathy 、 Biology 、 Autosomal dominant polycystic kidney disease 、 Molecular biology 、 Cardiology and Cardiovascular Medicine
摘要: Mutations in PKD1 and PKD2, the genes encoding proteins polycystin-1 (PC1) polycystin-2 (PC2), cause autosomal dominant polycystic kidney disease (ADPKD). Although leading of mortality ADPKD is cardiovascular disease, relationship between these conditions remains poorly understood. PC2 an intracellular calcium channel expressed renal epithelial cells cardiomyocytes, thus hypothesized to modulate signaling affect cardiac function. Our first aim was study function a zebrafish model lacking (pkd2 mutants). Next, we aimed explore relevance this human by examining Mayo Clinic's database for association idiopathic dilated cardiomyopathy (IDCM). Pkd2 mutant showed low output atrioventricular block. Isolated pkd2 hearts displayed impaired cycling alternans. These results indicate heart failure mutants. In patients, found IDCM coexist frequently with ADPKD. This strongest patients PKD2 mutations. demonstrate that modulates cycling, contributing development failure. subjects suggest PKD mutations contribute
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