Investigating a VPS13D-mediated mitophagic process to advance our understanding of the complex VPS13D-linked movement disorder(s).

Mutations in the VPS13D gene cause a complex movement disorder with a variety of symptoms. There is no cure for this disorder because we don't fully understand what the VPS13D protein does. Previous studies suggest that VPS13D is involved in mitophagy, a process that cells use to get rid of damaged mitochondria, which are the parts of the cell that produce energy. Problems with mitophagy are linked to many neurological disorders.

Our goal is to understand how VPS13D helps with mitophagy and how specific mutations in VPS13D disrupt this process. We will study how VPS13D interacts with other proteins involved in mitophagy and see how these interactions are affected by mutations found in patients. We will use a lab model that closely mimics the changes that happen in the brain cells of patients with these mutations. This will help us uncover key pathways and factors that contribute to the disorder's symptoms, including reasons for its variability. 

Overall, our study aims to deepen our understanding of how VPS13D mutations affect mitophagy and brain health. This knowledge could lead to new therapeutic targets for treating the disorder.