Understanding the role of the lipid transport protein VPS13B in Cohen syndrome pathogenesis
Awardee: Berrak Ugur
Institution: Yale University
Grant Amount: $98,828
Funding Period: February 1, 2025 - January 31, 2026
Summary:
Mutations in the VPS13B gene cause Cohen syndrome, a rare neurodevelopmental disorder characterized by developmental delays, muscle weakness, smaller head size, and progressive vision loss. VPS13B belongs to a family of proteins involved in lipid transfer between cellular membranes, a process essential for maintaining healthy cell function, particularly in the nervous system. Although VPS13B is present throughout the body and is known to be associated with the Golgi complex (a structure involved in protein and lipid transport within cells), its exact function has remained unclear. My research has shown that VPS13B primarily localizes to a specific area of the Golgi complex and plays a role in its recovery after disruption. This suggests that VPS13B’s function in lipid transfer may help maintain the structure and function of the Golgi complex. However, more research is needed to understand how these processes affect neurodevelopment and contribute to the symptoms of Cohen syndrome. The goal of the proposed research is to further investigate how VPS13B dysfunction leads to Cohen syndrome by identifying proteins that interact with VPS13B in neurons and determining key genes that work alongside VPS13B during development, potentially revealing new therapeutic targets for Cohen syndrome.