Phospholamban R14del disease: The past, the present and the future

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Abstract

Arrhythmogenic cardiomyopathy affects significant number of patients worldwide and is characterized by life-threatening ventricular arrhythmias and sudden cardiac death. Mutations in multiple genes with diverse functions have been reported to date including phospholamban (PLN), a key regulator of sarcoplasmic reticulum (SR) Ca2+ homeostasis and cardiac contractility. The PLN-R14del variant in specific is recognized as the cause in an increasing number of patients worldwide, and extensive investigations have enabled rapid advances towards the delineation of PLN-R14del disease pathogenesis and discovery of an effective treatment. We provide a critical overview of current knowledge on PLN-R14del disease pathophysiology, including clinical, animal model, cellular and biochemical studies, as well as diverse therapeutic approaches that are being pursued. The milestones achieved in <20 years, since the discovery of the PLN R14del mutation (2006), serve as a paradigm of international scientific collaboration and patient involvement towards finding a cure.

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Vafiadaki, E., Glijnis, P. C., Doevendans, P. A., Kranias, E. G., & Sanoudou, D. (2023). Phospholamban R14del disease: The past, the present and the future. Frontiers in Cardiovascular Medicine. Frontiers Media S.A. https://doi.org/10.3389/fcvm.2023.1162205

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