Open AccessRestoration of Normal L-Type Ca 2+ Channel Function During Timothy Syndrome by Ablation of an Anchoring Protein
Author(s) -
Edward P. Cheng,
Can Yuan,
Manuel F. Navedo,
Rose E. Dixon,
Madeline NievesCintrón,
John D. Scott,
Luis F. Santana
Publication year - 2011
Publication title -
circulation research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.899
H-Index - 336
eISSN - 1524-4571
pISSN - 0009-7330
DOI - 10.1161/circresaha.111.248252
Subject(s) - gating , electrophysiology , biophysics , cardiac action potential , mutation , protein subunit , ion channel , medicine , myocyte , chemistry , microbiology and biotechnology , biology , receptor , repolarization , gene , biochemistry
L-type Ca(2+) (Ca(V)1.2) channels shape the cardiac action potential waveform and are essential for excitation-contraction coupling in heart. A gain-of-function G406R mutation in a cytoplasmic loop of Ca(V)1.2 channels causes long QT syndrome 8 (LQT8), a disease also known as Timothy syndrome. However, the mechanisms by which this mutation enhances Ca(V)1.2-LQT8 currents and generates lethal arrhythmias are unclear.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom