Genetic backgrounds of inherited arrhythmias -disease specific human iPS cells-

儿茶酚胺能多形性室性心动过速(CPVT)是一种遗传性疾病，其特征是肾上腺素介导的室性心动过速，可导致晕厥和猝死，而不是结构性心脏病。我们从一名与CPVT相关的患者身上产生了疾病特异性的iPS细胞。分化的心肌细胞对儿茶酚胺诱导的钙波的敏感性增加。我们的结果表明，患者分化的心肌细胞可能是一个有用的CPVT模型，使我们能够研究其发病机制，并开发新的治疗方法。

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disorder characterized by adrenergically mediated ventricular tachyarrhythmias which cause syncope and sudden death without structural heart diseases. We generated disease-specific iPS cells from a patient associated with CPVT. The differentiated cardiomyocytes had an increased susceptibility to catecholamine-induced calcium waves. Our results suggest that the differentiated myocytes from the patient could be a useful model of CPVT enabling us to investigate the disease causing mechanisms and develop new therapies.