Mutations in cardiac gap junction genes and the pathophysiology underlying progressive cardiac conduction defect.

为了阐明进行性心脏传导缺陷(PCCD)的病理生理学基础，对PCCD家族成员进行了登记，并分析了其临床特征。基因筛查发现了一个编码连接蛋白40(Cx40)基因的新突变。突变体Cx40表现出单通道电导降低和质膜斑块形成障碍。这些数据表明，心脏传导系统异常的细胞-细胞耦合是PCCD的一种新的病理生理学基础。

To elucidate the pathophysiology underlying the progressive cardiac conduction defect(PCCD), PCCD family members were registered, and the clinical features were analyzed. Genetic screening revealed a novel mutation in a gene encoding connexin40(Cx40). The mutant Cx40 showed reduced single channel conductance and impaired plaque formation at the plasma membrane. These data demonstrates that the abnormal cell-cell coupling at the cardiac conduction system is a novel pathophysiology underlying PCCD.