American scientists close to cure for muscular dystrophy

Published on Thursday 16 July 2009 21:49

A BREAKTHROUGH by researchers studying the causes of muscular dystrophy (MD) could pave the way to a full or partial cure, it was revealed last night.

Scientists in the US have found a way to "unblock" the genetic fault at the heart of the disease. They believe that 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 MD in adults – showed the technique could restore the function of muscle cells.

Chief scientist Dr Charles Thornton, of the University of Rochester Medical Centre, in New York state, 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 a genetic degenerative disease characterised by progressive muscle wasting. Sufferers experience prolonged muscle tensing, or myotonia, and cannot relax certain muscles after use.

The genetic flaw was discovered in 1992, but has only now been fully understood.

The disease is caused by "dysfunctional messenger RNA" – a genetic molecule that carries instructions from genes to protein-building "machinery" in the cell. In myotonic dystrophy, the faulty RNA grabs and holds on to certain proteins, thereby preventing them from carrying out their normal functions.

The US team used a synthetic genetic molecule that binds to the toxic RNA and forces it to release the captured proteins.

The research was reported in the journal Science. Dr Marita Pohlschmidt, research director at the Muscular Dystrophy Campaign, said: "The results presented in this article are exciting as they are a step towards finding a treatment for the 7,500 children and adults in the UK living with this devastating condition.

"The Muscular Dystrophy Campaign has supported research for the past 50 years, and we are delighted to see that the many years of effort are coming closer to benefiting patients."