Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome.

ABSTRACT: The hERG potassium channel is critical to normal repolarization of cardiac action potentials (APs) and loss- and gain-of-function hERG mutations are associated, respectively, with long and short QT syndromes, pathological conditions that can lead to arrhythmias and sudden death. hERG current (I_hERG ) exhibits uniquely fast inactivation involving conformational changes to the channel pore. The S631A hERG pore mutation was originally engineered to interrogate hERG channel inactivation, but has very recently been found in a family with short QT syndrome (SQTS). Accordingly, this study characterized the effects of the S631A mutation on I_hERG profile during ventricular, atrial, and Purkinje fiber (PF) AP waveforms, using patch clamp recording from hER

SUBMITTER: Butler A 

PROVIDER: S-EPMC6119704 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature