Iris Wu, Aliya Zeng, Amara Greer-Short, J Alex Aycinena, Anley E Tefera, Reva Shenwai, Farshad Farshidfar, Melissa Van Pell, Emma Xu, Chris Reid, Neshel Rodriguez, Beatriz Lim, Tae Won Chung, Joseph Woods, Aquilla Scott, Samantha Jones, Cristina Dee-Hoskins, Carolina G Gutierrez, Jessie Madariaga, Kevin Robinson, Yolanda Hatter, Renee Butler, Stephanie Steltzer, Jaclyn Ho, James R Priest, Xiaomei Song, Frank Jing, Kristina Green, Kathryn N Ivey, Timothy Hoey, Jin Yang, Zhihong Jane Yang
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial cardiac disease associated with ventricular arrhythmias and an increased risk of sudden cardiac death. Currently, there are no approved treatments that address the underlying genetic cause of this disease, representing a significant unmet need. Mutations in Plakophilin-2 (PKP2), encoding a desmosomal protein, account for approximately 40% of ARVC cases and result in reduced gene expression. METHODS: Our goal is to examine the feasibility and the efficacy of adeno-associated virus 9 (AAV9)-mediated restoration of PKP2 expression in a cardiac specific knock-out mouse model of Pkp2...
March 18, 2024: Commun Med (Lond)