Duchenne muscular dystrophy, Prof. K. Davies

Group/Researcher: Prof. K. Davies, University of Oxford


The overall aim of this project was to find a drug which would up-regulate the levels of utrophin in human muscle for the therapy of Duchenne muscular dystrophy.

Duchenne Muscular Dystrophy (DMD) is a devastating muscle wasting disease which affects 1 in 3500 male births. These boys are usually in a wheelchair at around 12 years of age and the disease is life-limiting when they reach their twenties. There is currently no effective treatment and cases occur in new families each year since the disease shows a very high new mutation rate.

Duchenne muscular dystrophy is caused by the absence of the protein dystrophin. Utrophin is a protein with a similar function to dystrophin and elevating its levels might compensate for the lack of dystrophin in boys and young men with Duchenne muscular dystrophy.

Previous research by Prof Davies has shown that increasing the levels of utrophin in the muscles of mdx mice (a mouse model of Duchenne muscular dystrophy) appears to prevent the deterioration in muscle function usually seen in these mice. This project was aimed at furthering this work and identifying compounds that would increase the levels of utrophin in human muscle.

During the course of this project, Prof Davies and her colleagues developed a screening system, using cultured muscle cells, to test compounds for their ability to increase the levels of utrophin. Through this, they have provided evidence that increasing the amount of utrophin in muscle with small molecules is indeed possible. Importantly, they have also demonstrated that a number of different types of chemical compounds increase the levels of utrophin in the mdx mouse.

This research project has demonstrated that increasing utrophin is a feasible approach for therapy of the Duchenne muscular dystrophy.

This project was funded by the Big Lottery Fund

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