Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes

Long QT syndrome (LQTS) –associated mutations are predominantly found in cardiac genes that are responsible for synchronous action potential generation.1 Depolarization begins with the opening of the voltage-gated sodium channel (INa) channel for the rapid passage of Na+ into cardiomyocytes (CMs).1 The SCN5A gene encodes for the α subunit of this INa channel.1 Depolarization is followed by repolarization, where outward potassium currents rapidly activating delayed rectifier potassium channel (IKr) and slowly activating delayed rectifier potassium channel (IKs) are the major currents.
Source: Heart Rhythm - Category: Cardiology Authors: Tags: Editorial Commentary Source Type: research