Breakthrough in muscular dystrophy
Updated on 16 July 2009
A breakthrough by researchers studying the causes of muscular dystrophy could pave the way to a full or partial cure, it was revealed.
Scientists in the US have found a way to "unblock" the genetic fault at the heart of the disease.
They believe in future it may be possible not only to halt progression of the disease, but to reverse it.
Tests on mice with myotonic dystrophy - the most common form of the disease in adults - showed that the technique could restore the function of muscle cells. The research is reported in the journal Science.
Chief scientist Dr Charles Thornton, from the University of Rochester Medical Centre, said: "This study establishes a proof of concept that could be followed to develop a successful treatment for myotonic dystrophy. It also demonstrates the potential to reverse established symptoms of the disease after they have developed, as opposed to simply preventing them from getting worse."
Myotonic dystrophy is genetic degenerative disease characterised by progressive muscle wasting and weakness.
Sufferers experience prolonged muscle tensing, or myotonia, and cannot relax certain muscles after use. The condition is especially severe in the hands, which may become locked in a grip, and there is no medication that can hold back the disease.
The genetic flaw behind myotonic dystrophy was discovered in 1992 but has only now been fully understood. Instead of defective DNA, it involves dysfunctional messenger RNA - a genetic molecule that carries instructions from the genes to protein-building machinery in the cell.
In myotonic dystrophy, the faulty RNA grabs and holds onto certain proteins, thereby preventing them from carrying out their normal functions. Over time the "captive" proteins build up in deposits that can be seen in the cell's nucleus.
The US team corrected the problem with a synthetic genetic molecule that binds to the toxic RNA and forces it to release the captured proteins. Injected into the muscle cells of diseased mice, the molecule found its way to the cell nucleus where it broke up accumulations of toxic RNA, freed the proteins they were holding, and improved muscle cell function. Specifically, the scientists observed the return of proper electrical control in the cells after the release of a protein called "muscleblind-like 1" (MBNL1).
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