Pill 'eases' muscular dystrophy
Scientists believe the drug may help other genetic disorders
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Monday, 23, Apr 2007 11:52
A drug that is able to bypass a particular type of disease-causing mutation could help to ease the symptoms of Duchenne muscular dystrophy (DMD), US researchers have claimed.
There are about 60 different types of DMD and related neuromuscular conditions. They are characterised by the loss of muscle strength, progressive muscle wasting or nerve deterioration, according to the Muscular Dystrophy Campaign.
At present there are no cures for this mainly-inherited condition but new research suggests that a new drug, PTC124, could bypass 'nonsense' mutations, which are thought to be responsible for 13 per cent of DMD cases.
These mutations inactivate gene function and cause diseases including cystic fibrosis and Hurler's syndrome.
By targeting nonsense mutations, PTC124 bypasses the defect and leads to the restoration of a functional protein, tests on mice found in research published in the journal Nature.
The protein, dystrophin, was made in cells in which it was previously absent, delivered to the proper location and induced the restoration of muscle function.
Dr Stuart, president and chief executive of PTC Therapeutics, a biopharmaceutical company which developed the drug, said: "As these preclinical data demonstrate, the broad potential of PTC124 lies in its specificity and unique mechanism of action, which has the potential to address the underlying cause of a broad range of genetic disorders due to nonsense mutations.
"In addition to the ongoing phase two clinical trials of PTC124 in cystic fibrosis and Duchenne muscular dystrophy, we are evaluating PTC124 in a number of additional genetic disorders."