Article
CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.
Heart rhythm - 1 Feb 2018
Ben Jehuda Ronen, Eisen Binyamin, Shemer Yuval, Mekies Lucy N, Szantai Agnes, Reiter Irina, Cui Huanhuan, Guan Kaomei, Haron-Khun Shiraz, Freimark Dov, Sperling Silke R, Gherghiceanu Mihaela, Arad Michael, Binah Ofer
Abstract excerpt
BACKGROUND: Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial Wolff-Parkinson-White (WPW) syndrome. Patients carrying the R302Q mutation in PRKAG2 present with sinus bradycardia, escape rhythms, ventricular preexcitation, supraventricular tachycardia, and atrioventricular block. This mutation affects AMPK activity and...
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