Thursday 1 October 2009
Understanding the molecular causes of facioscapulohumeral muscular dystrophy
Project leader: Prof. Jane Hewitt
Location: University of Nottingham
Duration of project: 4 years (starting October 2009)
Total Project Cost: £98,280
Official project title: Investigation of molecular mechanisms in facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSH) is a muscle disease affecting mainly the facial (facio), shoulder blade (scapulo) and upper arm (humeral) muscles. The legs can also be affected. It is caused by a deletion within a repeated sequence of DNA called D4Z4 on chromosome 4. Healthy individuals have between 11 and 100 copies of the repeated sequence. Individuals who are affected by FSH have between 1 and 10 copies. For many years, researchers thought that the repeated sequence did not contain a gene but more recent research has suggested that this may not be the case. Part of the D4Z4 repeated region contains the instructions to make a protein. This suggests that this region does contain a gene after all.
Prof Hewitt wishes to study the D4Z4 region further in order to understand more about the protein that is produced. She will look at the production of the protein in both healthy and FSH cells, in the hopes of discovering more about its function. They will also investigate if the deletions seen in FSH change the amount of the D4Z4 protein being produced.
There is currently no treatment for FSH and there has been little progress in this area, mainly due the complex and unique nature of the underlying mutation. The increased understanding of the underlying mechanism behind FSH will help towards development of potential therapeutic approaches for this disease in the future.
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