The role of abnormal trafficking of KCNE1 in long QT syndrome 5.
LQTS (long QT syndrome) is an important cause of cardiac sudden death. LQTS is characterized by a prolongation of the QT interval on an electrocardiogram. This prolongation predisposes the individual to torsade-de-pointes and subsequent sudden death by ventricular fibrillation. Mutations in a number of genes that encode ion channels have been implicated in LQTS. Hereditary mutations in the alpha- and beta-subunits, KCNQ1 and KCNE1 respectively, of the K(+) channel pore I(Ks) are the commonest cause of LQTS and account for LQTS types 1 and 5 respectively (LQT1 and LQT5). Recently, it has been shown that disease pathogenesis in LQT1 can be influenced by the abnormal trafficking of KCNQ1. In comparison, whether defective trafficking of KCNE1 plays a role in LQT5 is less well established.
Harmer
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BHF Laboratories and Department of Medicine, University College London, 5 University Street, London WC1E 6JJ, U.K.
Tinker
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D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics / Q000378:metabolism; D008133:Long QT Syndrome / Q000378:metabolism*; D009154:Mutation; D024642:Potassium Channels, Voltage-Gated / Q000378:metabolism*; D011485:Protein Binding; D021381:Protein Transport
C489622:KCNE1 protein, human; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D024642:Potassium Channels, Voltage-Gated