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[HEALTH] · France, United States · 2 sources

Researcher Giorgia Bertoli Links PKP2 Gene to Premature Cardiac Aging

Giorgia Bertoli, a postdoctoral fellow in Dr. Mario Delmar’s laboratory at NYU Grossman School of Medicine, studies the molecular mechanisms of plakophilin‑2 (PKP2)–associated arrhythmogenic cardiomyopathy. Using a tamoxifen‑inducible, cardiomyocyte‑specific PKP2 knockout mouse model, she identified hallmarks of premature aging in heart cells and showed that PKP2 loss induces a pro‑inflammatory senescent phenotype in neighboring non‑myocytes. The research establishes a previously unrecognized connection between desmosomal arrhythmogenic cardiomyopathy and premature cardiac aging, suggesting overlap with pathways implicated in aging and neurodegenerative diseases.

These findings provide new perspectives on the pathogenesis of PKP2‑related ventricular arrhythmias and sudden cardiac death in young individuals.

Entities: Giorgia Bertoli · NYU Grossman School of Medicine · PKP2 (plakophilin‑2) · University of Milan · arrhythmogenic cardiomyopathy