Preprint: Fasting reverses PLN R14del-mediated cardiomyopathy through lysosomal reactivation
WHY IT MATTERS
If confirmed in human studies, fasting could offer PLN R14del cardiomyopathy patients a non-drug intervention to potentially reverse heart damage, though this is currently only demonstrated in laboratory research and requires clinical validation.
Scientists discovered that fasting may help reverse heart damage caused by a specific genetic mutation in the PLN gene called R14del. This mutation causes a common type of inherited heart disease where abnormal protein clumps build up in heart cells. The research shows that fasting activates the cell's cleanup system (lysosomes) to remove these harmful clumps and restore heart function.
Fasting reverses PLN R14del-mediated cardiomyopathy through lysosomal reactivation Authors: Gooijers, I. et al. Server: bioRxiv Category: cell biology Abstract: Genetic cardiomyopathies consist of a heterogeneous group of myocardial disorders caused by variants that disrupt key regulators of cardiac structure and function. Variants in PLN, encoding phospholamban (PLN), the main inhibitor of the sarco/endoplasmic reticulum Ca{superscript 2}-ATPase 2a (SERCA2a), have been linked to both dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM). Among these, the PLN Arg14del (R14del) variant is the most prevalent. PLN R14del cardiomyopathy is characterized by the accumulation of large perinuclear PLN aggregates in cardiomyocytes of end-stage h