Referenced in: none

Automatically associated channels: Kir2.3 , Kv11.1 , Kv7.1

Title: [Progress in research on defective protein trafficking and functional restoration in HERG-associated long QT syndrome].

Authors: Peiliang Fang, Jiangfang Lian

Journal, date & volume: Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2016 Feb , 33, 101-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/26829745

Abstract
The human ether-a-go-go related gene (HERG) encodes the α -subunit of the rapid component of the delayed rectifier K(+) channel, which is essential for the third repolarization of the action potential of human myocardial cells. Mutations of the HERG gene can cause type II hereditary long QT syndrome (LQT2), characterized by prolongation of the QT interval, abnormal T wave, torsade de pointes, syncope and sudden cardiac death. So far more than 300 HERG mutations have been identified, the majority of which can cause LQT2 due to HERG protein trafficking defect. It has been reported that certain drugs can induce acquired long QT syndrome through directly blocking the pore and/or affecting the HERG trafficking. The trafficking defects and K(+) currents can be restored with low temperature and certain drugs. However, the mechanisms underlying defective trafficking caused by HERG mutations and the inhibition/restoration of HERG trafficking by drugs are still unknown. This review summarizes the current understanding of the molecular mechanisms including HERG trafficking under physiological and pathological conditions, and the effects of drugs on the HERG trafficking, in order to provide theoretical evidence for the diagnosis and treatment of long QT syndrome.