CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates 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 (WPW) syndrome. Patients carrying the R302Q mutation in PRKAG2 present with sinus bradycardia, escape rhythms, ventricular preexcitation, supraventricular tachycardia, and a trioventricular block. This mutation affects AMPK activity and increases glycogen storage in cardiomyocytes. The link between glycogen storage, WPW syndrome, HCM, and arrhythmias remains unknown.
Source: Heart Rhythm - 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
More News: Arrhythmia | Cardiology | Cardiomyopathy | Genetics | Heart | Hypertrophic Cardiomyopathy | Parkinson's Disease | Stem Cell Therapy | Stem Cells | Wolff-Parkinson-White Syndrome