One of the hallmark features of ARSACS is dysfunction and eventual death of Purkinje cells in the cerebellum, which contributes to ataxia. Strikingly, not all Purkinje cells become ill and die: rather, there are specific patterns of vulnerability and resilience to Purkinje cells cell death that are observed in both human patients and mouse models of ARSACs. What factors cause vulnerability and resilience is at present unknown, but is an intriguing line of research.
Our work focuses on identification of factors that promote resilience or prevent vulnerability to cell death. At present, we focus on two approaches: (1) reversing mitochondrial dysfunction, and (2) understanding and reversing dysregulation of endosomal trafficking. We also continue to explore novel pathways that could be targeted for future therapeutics.
Grant: $146,000 for the first year
Duration: 2 year project
Contact:
Dr. Alanna Watt, Department of Pharmacology and Therapeutics
McGill University, Bellini Life Science Building, room 167
3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1
email: alanna.watt@mcgill.ca
Dr. Anne McKinney, Department of Biology
McGill University Bellini Life Science Building, room 265
3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1
email: anne.mckinney@mcgill.ca