HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency
Paulussen, ADC * × Raes, Adam * Jongbloed, RJ Gilissen, RAHJ Wilde, AAM Snyders, DJ Smeets, HJM Aerssens, J #
Elsevier science bv
Cardiovascular Research vol:67 issue:3 pages:467-475
Objective: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reduction of the delayed rectifier current I-Kr, thereby leading to the long QT syndrome (LQTS). The reduced I-Kr delays the repolarisation of cardiac cells and renders patients vulnerable to ventricular arrhythmias and sudden death. We identified a novel mutation in a LQTS family and investigated its functional consequences using molecular and microscopic techniques.