Investigating early protein translation deficits in mouse/iPSC models

Investigating models of a type of MND caused by mutations in the FUS gene to understand what goes wrong in motor neurones.

Pietro Fratta

Lead Investigator: Dr Pietro Fratta

Lead Institution: University College London

MND Association Funding: £209,295

Funding dates: July 2020 - June 2023

About the project

A new mouse line bearing mutations in the FUS gene develops an aggressive MND phenotype over 3 months. This project will thoroughly characterise these mice and their motor neurone loss to make the novel tool available to the MND research community. Secondly, these mice and patient-derived cells will be used to determine whether the making of new proteins is impaired and if it is an early mechanism of disease. The findings of the project could help in development of new therapeutic strategies to modify disease progression.

What does this mean for people living with MND?

Understanding what goes wrong in MND is crucial in helping researchers develop new potential therapeutic treatments. This project is delving deep into the biology and mechanisms that happen in a specific type of MND caused by mutations in the FUS gene. If these mechanisms are found to behave differently in people living with MND, researchers could use it as a target when designing new treatments.


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Our Fellows | MND Association

Project code: 868-791

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