title: Long QT syndrome: cellular basis and arrhythmia mechanism in LQT2.
abstract: LQT2 is one form of the congenital long QT syndrome. It results from mutations in the human ether-a-go-go-related gene (HERG), and more than 80 mutations, usually causing single amino acid substitutions in the HERG protein, are known. HERG encodes the ion channel pore-forming subunit protein for the rapidly activating delayed rectifier K+ channel (I(Kr)) in the heart. This review summarizes current findings about mutations causing LQT2, the mechanisms by which mutations may cause the clinical phenotype of a reduction in I(Kr) and a prolonged QT interval, and how this may be involved in the generation of ventricular arrhythmias.
authors.affiliation: Department of Medicine, University of Wisconsin, Madison, USA. ctj@medicine.wisc.edu
authors.forename: C T
authors.initials: CT
authors.lastname: January
authors.forename: Q
authors.initials: Q
authors.lastname: Gong
authors.forename: Z
authors.initials: Z
authors.lastname: Zhou
mesh_terms: D019943:Amino Acid Substitution; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000378:metabolism / Q000503:physiopathology* / Q000628:therapy; D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D005799:Genes, Dominant; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D009154:Mutation; D011188:Potassium / Q000378:metabolism; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism; D024642:Potassium Channels, Voltage-Gated; D021381:Protein Transport / Q000235:genetics; D013696:Temperature; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG
chemical_list: D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; C092509:KCNH6 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG; D011188:Potassium