Abstract 638: A Novel Mutation In The <i>KCR1</i> Gene May Influence Susceptibility To The Acquired Long QT Syndrome

TL;DRAbstract

Introduction : Acquired QT interval prolongation and torsade de pointes can be caused by exposure to certain drugs, electrolyte imbalance, and myocardial ischemia. Acquired LQTS is more prevalent than the congenital LQTS and represents a significant problem for public health. Previous reports showed that K + channel regulator 1 (KCR1), an α glucosyltransferase, diminishes HERG drug sensitivity , and that a KCR1 polymorphism, Ile447Val, is associated with protection against drug-induced LQTS in humans. However, few studies address the effects of genetic changes in KCR1 and we screened the coding region of KCR1 in Japanese patients with the acquired LQTS. Hypothesis : We hypothesized that mutations or polymorphisms in KCR1 may influence the development of acquired LQTS. Methods: The genomic DNA of 70 unrelated patients with congenital LQTS, 41 unrelated patients with acquired LQTS, and 130 unrelated control subjects was screened by PCR-SSCP, PCR-RFLP, and direct sequencing. Appropriate s

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