title: Molecular pathogenesis of long QT syndrome type 1.
abstract: Long QT syndrome type 1 (LQT1) is a subtype of a congenital cardiac syndrome caused by mutation in theKCNQ1gene, which encodes theα-subunit of the slow component of delayed rectifier K+current (IKs) channel. Arrhythmias in LQT1 are characterized by prolongation of the QT interval on ECG, as well as the occurrence of life-threatening cardiac events, frequently triggered by adrenergic stimuli (e.g., physical or emotional stress). During the past two decades, much advancement has been made in understanding the molecular pathogenesis underlying LQT1. Uncovering the genotype-phenotype correlations in LQT1 is of clinical importance to better understand the gene-specific differences that may influence the propensity for developing life-threatening arrhythmias under specific conditions. Elucidation of these mechanisms will also help to improve the diagnosis and management of this cardiac disorder based on gene-specific considerations. This review describes the current medical consensus and recent developments regarding the molecular pathogenesis of LQT1 and provides a novel insight into the adrenergic regulation of this disease.
authors.affiliation: Department of Pharmacology, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, 710061, Xi׳an, China; Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan; Department of Physiology, Shiga University of Medical Science, Otsu 520-2192, Japan.
authors.forename: Jie
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Physiology, Shiga University of Medical Science, Otsu 520-2192, Japan.
authors.forename: Wei-Guang
authors.initials: WG
authors.lastname: Ding
authors.affiliation: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan.
authors.forename: Minoru
authors.initials: M
authors.lastname: Horie
keywords: Adrenergic regulation; Genotype-phenotype correlations; KCNQ1; LQT1