How do toxic repeat proteins disrupt the cellular waste removal system in MND?

“The problems to be addressed in this project are of major importance and are likely to make a significant contribution to understanding ALS/MND.” – scientific peer reviewer.

Mutations in a gene known as C9orf72 are a common genetic cause of MND. When this gene is mutated in MND, lots of toxic repetitive proteins are created and the waste removal process inside cells can be disrupted. If waste is not removed effectively it can build up and clump together, which can cause cells to die. This is a common feature in people with MND.

We are pleased to be supporting a PhD studentship at King’s College London, under the leadership of Dr Sarah Mizielinska. Using human cells and a state-of-the-art imaging system, as well as neurones from a mouse model of MND, the team will investigate the interaction between the toxic proteins made by C9orf72 and the waste disposal process. They will also study the effects of targeting the disrupted waste disposal in MND using drugs which have previously been investigated in other neurological diseases. This project aims to understand the exact processes that lead to the disruption of waste disposal and identify new and effective treatments to be used for people with MND.

This project will cost £97,311 over three years.

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