Abstract
Pérez-Hernández et al (Circulation August 12, 2022; https://doi.org/10.1161/CIRCULATIONAHA.122.060454, PMID 35959657) determined the underlying molecular substrate of arrhythmogenic right ventricular cardiomyopathy (ARVC) with the PKP2 gene mutations, which encodes the PKP2 (plakophilin-2) protein, using right ventricular biopsy samples. Samples from patients with ARVC present a loss of nuclear envelope integrity, molecular signatures indicative of increased DNA damage, and a deficit in transcripts coding for proteins in the electron transport chain.
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