Yong Sandro, Tian Xiaoli, Wang Qing
Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Cleveland, OH, 44195, USA.
Mol Interv. 2003 May;3(3):131-6. doi: 10.1124/mi.3.3.131.
Mutations in ion channels have been implicated in the formation of long QT syndrome (LQTS). However, Mohler et al. have recently uncovered a role for ankyrin-B, a non-ion channel protein, in type IV LQTS. Calcium signalling is altered, and the functions of several channels and pumps that normally interact with wild-type ankyrin-B are impaired in the presence of mutant ankyrin-B. The authors suggest that by disrupting the functions of these channels, a new mechanism has been uncovered that can lead to cardiac myopathy.
离子通道突变与长QT综合征（LQTS）的形成有关。然而，莫勒等人最近发现了锚蛋白B（一种非离子通道蛋白）在IV型LQTS中的作用。钙信号传导发生改变，并且在存在突变型锚蛋白B的情况下，几种通常与野生型锚蛋白B相互作用的通道和泵的功能受损。作者认为，通过破坏这些通道的功能，发现了一种可导致心肌病的新机制。
