Understanding the role of a protein called FUS has at synapses.

Sarah Tacconelli

PhD Student: Sara Tacconelli

Principal Investigator: Dr Caroline Vance 

Lead Institution: King's College London

MND Association Funding: £117,697*

Funding dates: October 2020 - March 2024

*Supported by the West Sussex South and West Sussex North MND Association Branches and the UK Government BEIS/DH Medical Research Charity Support Fund

About the project

The project investigates how FUS protein functions normally in the brain by identifying proteins that it interacts with at synapses (point of contact for brain cells) and seeing how these differ in disease. Two different and well-characterised mouse models of MND-FUS will be used to identify common pathways affected in disease. One recapitulates an early-onset aggressive fatal model of the human disease and the other models non-fatal late-onset. Advanced imaging will also be used to investigate how manipulating the FUS-interacting proteins within brain cells in a dish can reverse a known cellular defect (transport of proteins). This will identify potential therapeutic pathways for intervention in relevant disease cell types.

What could this mean for MND research?

This project is looking to understand more about a particular type of MND, which is where the FUS gene is faulty. It will look at specific mechanisms within the body to understand what goes wrong within FUS-MND but also to see if the damage can be corrected in cell models. This could lead to the discovery of new potential targets for therapeutic intervention.  

Project code894-792

Animal research