AAV9:PKP2 improves heart function and survival in a Pkp2-deficient mouse model of arrhythmogenic right ventricular cardiomyopathy.
Iris WuAliya ZengAmara Greer-ShortJ Alex AycinenaAnley E TeferaReva ShenwaiFarshad FarshidfarMelissa Van PellEmma XuChris ReidNeshel RodriguezBeatriz LimTae Won ChungJoseph WoodsAquilla ScottSamantha JonesCristina Dee-HoskinsCarolina G GutierrezJessie MadariagaKevin RobinsonYolanda HatterRenee ButlerStephanie SteltzerJaclyn J HoJames R PriestXiaomei SongFrank JingKristina GreenKathryn N IveyTimothy HoeyJin YangZhihong Jane YangPublished in: Communications medicine (2024)
We identify fundamental mechanisms of PKP2-associated ARVC beyond disruption of desmosome function. The observed PKP2 dose-function relationship indicates that cardiac-selective AAV9:PKP2 gene therapy may be a promising therapeutic approach to treat ARVC patients with PKP2 mutations.