KVLQT1 - A LONG QT SYNDROME GENE WHICH ENCODES KVLQT1 WHICH COASSEMBLES WITH minK TO FORM CARDIAC IKs POTASSIUM CHANNELS

摘要

One aspect of the invention relates to the identification of the molecular basis of long QT syndrome. More specifically, the invention has identified that minK coassembles with KVQLT1 to form a cardiac potassium channel. Thus, it has been discovered that mutated minK causes long QT syndrome. The analysis of this gene will provide an early diagnosis of subjects with long QT syndrome. The diagnostic methods comprise analyzing the nucleic acid sequence of the minK gene of an individual to be tested and comparing them with the nucleic acid sequence of the native, non-variant gene. Alternatively, the amino acid sequence of minK may be analyzed for mutations which cause long QT syndrome. Presymptomatic diagnosis of long QT syndrome will enable practitioners to treat this disorder using existing medical therapy. A second aspect of the invention relates to assays for drugs which interact with the cardiac potassium channel to identify new drugs which are useful for treating or preventing long QT.