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MRC Research Offers Hope of Treatment for People with Duchenne Muscular Dystrophy
July 04, 2003A new approach which effectively patches over genetic defects offers hope of treatment to people with the terminal illness, Duchenne muscular dystrophy. This is the conclusion of research led by Dr Qi Long Lu and Professor Terence Partridge at the Medical Research Council's Clinical Sciences Centre.
Most cases of Duchenne muscular dystrophy are caused by mutations in a gene called dystrophin. These mutations leave most of the gene intact but stop the cell from translating the genetic code into a protein which prevents muscles from wasting. Most patients die from respiratory or cardiac failure before they are 30.
The researchers used a new technique called antisense therapy to treat the mouse version of the disease. The treatment resulted in restored production of dystrophin protein and improved muscle function.
Antisense therapy works by injecting drugs carrying small fragments of genetic code which trick the cell's gene-translating machinery into jumping around the mutation. This allows the most important parts of the protein to be made permitting it to function almost normally, and to relieve many symptoms of the disease.
Unlike other approaches, such as gene therapy, which are currently being investigated as possible treatments for this and other diseases, antisense therapy does not involve the insertion of a corrected form of the gene into cells; rather it corrects the patient's own original gene.
Gene therapy treatments have so far proved unsuccessful as they are hindered by the exceptionally large size of the dystrophin gene, and the difficulty in delivering the gene to the appropriate muscle fibres.
Professor Partridge said: "Antisense therapy offers huge potential for the effective treatment of diseases like Duchenne muscular dystrophy, however, before this therapy can be tested on humans more work must be done to improve the current method of delivering the antisense drug."
The new research offers hope for the approximately 1 in 3,500 children, mostly boys, born with the disorder each year.
The research is published today, 6 July 2003, in the online edition of Nature Medicine and in the August paper edition of the journal.
Medical Research Council
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