Publications by authors named "Aryanne Do"
Background: Muscle proteins of the obscurin protein family play important roles in sarcomere organization and sarcoplasmic reticulum and T-tubule architecture and function. However, their precise molecular functions and redundancies between protein family members as well as their involvement in cardiac diseases remain to be fully understood.
Methods: To investigate the functional roles of Obsc (obscurin) and its close homolog Obsl1 (obscurin-like 1) in the heart, we generated and analyzed knockout mice for , , as well as double knockouts.
Article Synopsis
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a serious genetic heart condition linked to dangerous heart rhythms, primarily caused by mutations in the PKP2 gene, with no current effective treatments available.
- Researchers developed a mouse model with a specific PKP2 mutation that mimics ARVC symptoms, leading to sudden death at a young age.
- Treatment with AAV-PKP2 gene therapy in these mice significantly restored normal PKP2 levels, preventing heart damage and improving survival rates, suggesting a potential new therapy for ARVC related to PKP2 mutations, especially those affecting RNA splicing.