Article
Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation.
The Journal of biological chemistry - 1 Nov 2022
Wang Hongrui, Wu Tong, Huang Zhuo, Huang Jinghan, Geng Ze, Cui Bing, Yan Yupeng, Zhang Yu, Wang Yibo
Abstract excerpt
Mutations in the hyperpolarization-activated nucleotide-gated channel 4 (HCN4) are known to be associated with arrhythmias in which QT prolongation (delayed ventricular repolarization) is rare. Here, we identified a HCN4 mutation, HCN4-R666Q, in two sporadic arrhythmia patients with sinus bradycardia, QT prolongation, and short bursts of ventricular tachycardia. To determine the functional effect of the mutation,...
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