CRISPR correction of the PRKAG2 gene mutation in the patient's iPSC-derived cardiomyocytes eliminates the electrophysiological and structural abnormalities

Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate-kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial-Wolff-Parkinson-White syndrome (WPW). Patients carrying the R302Q mutation in PRKAG2 present sinus bradycardia, escape rhythms, ventricular pre-excitation, supraventricular tachycardia and atriov entricular block. This mutation affects AMPK activity and increases glycogen storage in cardiomyocytes. The link between glycogen storage, WPW, HCM and arrhythmias remains unknown.

Source: Heart Rhythm - September 13, 2017 Category: Cardiology Authors: Ronen Ben Jehuda, Binyamin Eisen, Yuval Shemer, Lucy N. Mekies, Agnes Szantai, Irina Reiter, Huanhuan Cui, Kaomei Guan, Shiraz Haron-Khun, Dov Freimark, Silke R. Sperling, Mihaela Gherghiceanu, Michael Arad, Ofer Binah Source Type: research