Dysfunctional skeletal muscle and nervous system in Duchenne muscular dystrophy: unraveling the role of Exocyst complex component 3-like protein 4

This project has been funded thanks to the Joint Call Fondazione Cariplo and Fondazione Telethon 2025.

Duchenne muscular dystrophy (DMD) is a severe disease that leads to weakening muscles and can also affect brain function. Current treatments mainly focus on restoring a missing protein called dystrophin, but they overlook other important changes that may contribute to the overall problems seen in patients. Our project focuses on a little-known gene called EXOC3L4, which may play a crucial role in both muscle and brain issues in DMD. We will study when and where EXOC3L4 is active in muscle tissue and in areas of the brain using a mouse model of DMD compared to normal mice. In addition, we will examine how altering the activity of this gene in muscle and brain cells affects cell growth, development, and the way cells communicate. By exploring these processes, our study aims to reveal how EXOC3L4 might link muscle degeneration to brain function changes. Ultimately, our research could lead to new treatment strategies that not only improve muscle strength but also address cognitive challenges in DMD, thereby enhancing the overall quality of life for patients.