Exploring how changes in the ATXN2 gene affect the structure and survival of cells from people with MND.
Principal Investigator: Dr Katja Burk
PhD Student: Katie O'Mahony
Lead Institution: University College Cork
MND Association Funding: £132,720
Funding dates: April 2025 - September 2028
About the project
Ataxin2 (ATXN2) is a gene which is associated with MND. When the ATXN2 gene is altered, it increases the risk of a person developing the disease. It can also worsen MND in people who have other genetic changes. Previous work has suggested that ATXN2 is involved with the cytoskeleton – the skeleton of the cell, which maintains the shape and internal organisation. The researchers will use cells from people with MND who have changes in the ATXN2 gene. They will investigate changes to the cytoskeleton in these cells, as well as further effects these changes have on other parts of the cell.
What could this mean for MND research?
This research is aiming to further understanding of the role of changes in ATXN2 in MND. Having a better understanding of this could provide new targets for the development of future treatments for MND.
Project code: 2422-792