Structure-Function of Cardiac Ion Channels: Review

• S Kass Robert

  Columbia University, Department of Pharmacology

抄録

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⁺ 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.

収録刊行物

• Journal of Arrhythmia

  Journal of Arrhythmia 27 (Supplement), SS1_1-, 2011

  日本不整脈学会

キーワード

• cardiac ion channels

詳細情報

• CRID: 1390282680222443776
• NII論文ID: 130002130104
• DOI: 10.4020/jhrs.27.ss1_1
• ISSN: 18832148
• ISSN: 18804276
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可