Using animals in research

Duchenne muscular dystrophy

Green signal identifying dystrophin in a healthy skeletal muscle.

Professor of Molecular Medicine, Darek Gorecki, and his team in the School of Pharmacy and Biomedical Sciences, are working to find a treatment that will delay the onset and slow down the progression of muscle degeneration in people with Duchenne muscular dystrophy, the most common and severe of all muscular dystrophies.

The condition is caused by a lack of dystrophin, a protein which acts like scaffolding and an anchor in muscle cells and without which these cells become damaged and then progressively lost, resulting in death of young adults. There are also brain forms of dystrophin that, when mutated, are responsible for the severe cognitive problems sometimes also seen in this condition.

There is no cure for this disease and treatments are urgently needed.

Working with mice, the research team has already identified a molecule present in dystrophic muscle cells (called P2X7) that contributes to muscle damage. By manipulating this molecule, the scientists have been able to relieve disease symptoms.

Professor Gorecki says: “If we can achieve improvement in the mouse model of Duchenne muscular dystrophy, then there is a good chance that the same treatment may work in human patients, though of course, it will still need to be tested in clinical trials.”

The team’s success at manipulating P2X7 and their plans for further research have received strong endorsement from a panel of the world’s leading experts in muscular dystrophy.

Photo caption: Green signal identifying dystrophin in a healthy skeletal muscle. Absence of this protein causes a debilitating and incurable Duchenne muscular dystrophy.