Are proteins managed differently in people with FSHD?

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.

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.

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.