Structure-Function of Cardiac Ion Channels: Review
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概要
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Channelopathies are diseases caused by inherited mutations in genes coding for ion channels or channel associated proteins. In the heart there are multiple known channelopathies including, but not limited to, the Long QT syndrome (LQTS), atrial fibrillation (AF), and the Brugada Syndrome (BS). Studies of these rare disorders have provided a wealth of information about fundamental mechanisms underlying human cardiac electrophysiology; ion channel structure and function; and particularly the manner in which potassium channels; sodium channels; and channel-associated proteins regulate the plateau phase of the cardiac action potential. This presentation will focus on three areas the have evolved from studies of LQTS and congenital AF, with a focus on two channels: the IKS (KCNQ1/KCNE1) channel and the Nav1.5 Na<SUP>+</SUP> channel. Insight into the relationships between ion channel structure and function will be stressed. In particular, biochemical and imaging studies will be summarized which show, for the first time, the role of the KCNE1 subunit in controlling KCNQ1 voltage sensor and a structural basis for a beta subunit dependence of two AF mutations (S140G and V141M). Studies derived from patient-derived inducible pluripotent stems (iPS) cells will be described. The IKS subunit stoichiometry will be shown to be critical and important in determining the function of this important ion channel in the heart.
- 日本不整脈学会の論文
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関連論文
- Structure-Function of Cardiac Ion Channels: Review
- The Long QT Syndrome: Broad Insights from Studies of a Rare Congenital Arrhythmia