Currently we are looking carefully at sacsin’s interaction with cytoskeletal proteins and defining the molecular mechanisms by which sacsin’s loss disrupts cytoskeletal function. This includes research examining a link between cytoskeletal disruption, caused by loss of sacsin, and impaired formation of structures called focal adhesions that are important for cell movement. We are also looking at links between ARSACS and other neuronal diseases where cytoskeletal dysfunction is a feature, including Alzheimer’s disease. One of the key challenges that we wish to solve is understanding how all of the different problems identified in cells that do not have sacsin are integrated together. If we fully understand the ‘hierarch of events’ in the molecular pathology of cells that lack sacsin it will potentially facilitate the development of treatments for ARSACS.
Duration: 2nd year of a 3 year funded project
Grant: 32,827 pounds
Dr.Paul Chapple, Professor of Molecular Cell Biology
Centre for Endocrinology Barts and The London, Queen Mary’s School of Medicine and Dentistry
1st Floor North ,John Vane Science Building,Charterhouse Square
London, EC1M 6BQ
T: +44 (0) 20 7882 6242