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Are proteins managed differently in people with FSHD?

Prof Burniston aims to understand whether people with FSHD degrade proteins differently compared to people without the condition and to hopes to be able to explain why that happens.
Principal Investigator
Professor Jatin Burniston
Liverpool John Moores University
Official title
Aberrant protein degradation is a central mechanism of Facioscapulohumeral Muscular Dystrophy
12 months
Total cost


Facioscapulohumeral muscular dystrophy (FSHD) is a muscle-wasting condition caused by a genetic mutation. It is one of the most common forms of muscular dystrophy and there is currently no effective treatment.

In every cell of our body, our genes are used as a template to make proteins. Scientists refer to this activity as “expression”. Generally, we would expect that the more gene expression there is, the more protein there will be. However, in people with FSHD, the expression of many genes in muscle does not match the production of protein. A possible reason for this could be that, while proteins are produced normally, they are broken down (degraded) more rapidly in the muscles of people with FSHD.

What are the aims of the project?

MDUK has awarded funds for a 12-month project, which aims to investigate whether the degradation of proteins is faulty in the muscles of patients with FSHD, and to determine the reasons why that happens. The project also seeks to test if a novel gene therapy can restore normal protein turnover in these muscles.

Why is this research important?

This is an extremely innovative and novel approach to the investigation of FSHD and, while this is still very early in development, findings from the research may help scientists to develop new treatments for the condition.

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