Isoform changes of action potential regulators in the ventricles of arrhythmogenic phospholamban-R14del humanized mouse hearts

Arrhythmogenic cardiomyopathy (ACM) is characterized by life-threatening ventricular arrhythmias and sudden cardiac death and affects hundreds of thousands of patients worldwide. The deletion of Arginine 14 (p.R14del) in the phospholamban (PLN) gene has been implicated in the pathogenesis of ACM. PLN is a key regulator of sarcoplasmic reticulum (SR) Ca2+ cycling and cardiac contractility. Despite global gene and protein expression studies, the molecular mechanisms of PLN-R14del ACM pathogenesis remain unclear.

Source: Metabolism - Clinical and Experimental - November 11, 2022 Category: Biomedical Science Authors: Malgorzata E. Rogalska, Elizabeth Vafiadaki, Zoi Erpapazoglou, Kobra Haghighi, Lisa Green, Christos S. Mantzoros, Roger J. Hajjar, Michael Tranter, Ioannis Karakikes, Evangelia G. Kranias, Francesca Stillitano, Panagiota Kafasla, Despina Sanoudou Source Type: research