A long-term QT syndrome gene encoding KVLQT1 and a combination of KVLQT1 and MINK

摘要

One aspect of the present invention relates to the identification of the molecular system of long-term QT syndrome. More specifically, the present invention has confirmed that mutated KVLQT1 causes long-term QT syndrome. Analysis of this gene will provide early detection of subjects with long-term QT syndrome. This diagnostic method consists of analyzing the nucleic acid sequence of the KVLQT1 gene of the subject and comparing it with the nucleic acid sequence of the natural, non-variable gene. In addition, the amino acid sequence of KVLQT1 can be analyzed for mutations that cause long-term QT syndrome. The pre-symptomatic diagnosis of long-term QT syndrome will enable doctors to treat this disease using current medical therapies. The second aspect of the invention relates to the understanding that KVLQT1 associates with minK to form cardiac potassium channels. This allows us to identify new drugs useful for treating or preventing long-term QT by analyzing drugs that interact with this channel.