Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was described in 1978 as a unique form of ataxia accompanied with motor speech anomalies, muscle wasting phenotypes, and peripheral nerve complications. Genetic studies have established that ARSACS is caused by mutations in sacsin – a protein whose biology is poorly known. Current research suggests that sacsin supports cytoskeletal and mitochondrial organization. To shed light on sacsin function and to support the future development of potential therapies, the structure of sacsin in both native and mutated states needs to be determined. However, no published research has described the purification of sacsin, a 520 kDa protein, for in vitro and structural investigations. Our group is currently working to optimize the conditions for the expression and purification of sacsin. We are also working to obtain its three-dimensional (3D) structure using cryogenic electron microscopy.
Financement: 100 000$
Durée : un an
Dr. Walid A. Houry
Department of Biochemistry, Temerty Faculty of Medicine, University of Toronto
661 University Avenue, Mars Centre, West Tower, Room 1612
Toronto, ON Canada M5G 1M1
Coordonnées: walid.houry@utoronto.ca