Mutation-specific pharmacology of the long QT syndrome.
The congenital long QT syndrome is a rare disease in which inherited mutations of genes coding for ion channel subunits, or channel interacting proteins, delay repolarization of the human ventricle and predispose mutation carriers to the risk of serious or fatal arrhythmias. Though a rare disorder, the long QT syndrome has provided invaluable insight from studies that have bridged clinical and pre-clinical (basic science) medicine. In this brief review, we summarize some of the key clinical and genetic characteristics of this disease and highlight novel findings about ion channel structure, function, and the causal relationship between channel dysfunction and human disease, that have come from investigations of this disorder.
Kass
R S
RS
Department of Pharmacology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. RSK20@Columbia.edu
Moss
A J
AJ
D000200:Action Potentials; D000779:Anesthetics, Local / Q000494:pharmacology; D006321:Heart / Q000502:physiology; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics; D008133:Long QT Syndrome / Q000188:drug therapy* / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D012307:Risk Factors; D026941:Sodium Channel Blockers / Q000494:pharmacology; D015222:Sodium Channels / Q000737:chemistry / Q000187:drug effects / Q000235:genetics* / Q000502:physiology; D013329:Structure-Activity Relationship
D000779:Anesthetics, Local; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D026941:Sodium Channel Blockers; D015222:Sodium Channels