Furthering knowledge of how the NEK1 and C21ORF2 proteins work together in healthy cells and how this interaction goes wrong in MND.

John Rouse

Principal Investigator: Prof John Rouse

Lead Institution: University of Dundee

MND Association Funding: £218,197

Funding dates: November 2021 - April 2024

About the project

There are known to be over 40 genetic causes of MND and one of these is a change in the gene that makes the NEK1 protein. This gene change causes a faulty version of the NEK1 protein to be produced, meaning that it no longer works as it should within the cell. Inside cells, NEK1 usually partners with another protein called C21ORF2 and faulty versions of this protein have also been associated with the development of MND. This project aims to further our knowledge of how NEK1 and C21ORF2 work together in healthy cells and their normal functions. Knowing more about the actions of NEK1 and C21ORF2 in healthy cells will aid in gaining a better understanding of how faulty versions of these proteins behave in MND and how they contribute to the development of the disease.

What could this mean for MND research?

Understanding more about how these proteins function together normally within cells will help to shed light on how this interaction might be going wrong in MND. If researchers can identify how these proteins interact and what they do in cells, it may reveal how the faulty versions of these proteins behave in MND. This could lead to the identification of ways to correct the interaction between NEK1 and C21ORF2 and aid in the discovery of potential new targets for drug development.

Project code: 877-791