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Title of the article
Electrophysiological characterization of the hERG R56Q LQTS variant and targeted rescue by the activator RPR260243
List of authors
Jacob M. Kemp, Dominic G. Whittaker, Ravichandra Venkateshappa, ZhaoKai Pang, Raj Johal, Valentine Sergeev, Glen F. Tibbits, Gary R. Mirams, Thomas W. Claydon
The journal in which the article is published
The Journal of General Physiology
DOI:10.1085/jgp.202112923
A brief summary
Inherited variants in the hERG cardiac potassium channel gene can result in Long QT Syndrome, a disorder that can leave affected individuals susceptible to cardiac arrhythmias. Understanding the effects of variants on the electrical activity of those affected is beneficial for stratifying their risk of sudden death, and the development of novel treatments. Here, we characterize a poorly understood variant, demonstrate it may increase cardiac risk by a novel mechanism, and show that we can compensate for the observed loss of function using a specific channel activator drug.
This post was originally posted on the SFU BPK Instagram account on September 1st, 2021.