Muscular dystrophies are a cluster of more than twenty dissimilar genetic neuromuscular disorders. The most common among them is Duchenne muscular dystrophy (DMD), which affects about one in more than three thousand boys. DMD is caused by problems in a gene on the X chromosome that makes a protein called dystrophin found in muscle fibres.
Muscle fibres go kaput are lost steadily. Another form of muscular dystrophy has analogous but meek symptoms. The researchers said a molecular scalpel shows assurance in patients suffering lethal muscle wasting condition. The gene for the protein dystrophin is damaged in people with DMD. It affects one in every three thousand and five hundred newborn boys.
All through the life the muscle wastes away and children can need a wheelchair by reaching the age of ten. The condition can become life-threatening before the age of thirty, when it affects the muscles, which are needed to breathe and pump blood around the body.
The instructions for making a dystrophin protein are in the genetic code, but this can be interrupted by mutations or deletions in the code. The gene therapy and stem cell study has tried to discover ways of introducing a functional dystrophin gene. The research team from the Institute of Child Health at University College London injected tailored pieces of antisense RNA, the scalpel.
This removed a piece of the genetic code allow it to be matched up either side of the mutation. In the trial study, seven out of the nineteen children had some degree of dystrophin production restored. All of study participants received the highest doses. The study was published in the Lancet.
According to lead researcher Professor Francesco Muntoni, the best result was twenty percent of normal dystrophin levels. That is somewhat remarkable considering the study was for twelve weeks. This the first time they can say with confidence that they have made a significant burst through towards finding a targeted treatment.
However, Prof Muntone added that as the scalpel was tailored to a specific mutation it could not benefit everyone, in this case around thirteen percent of patients. The second most common mutation affects eleven percent, which requires another scalpel. The study was quite a big deal, explained Dr Marita Pohlschmidt, director of the Muscular Dystrophy Campaign.
If they can transform severe symptoms in Duchenne into something milder, that would be fantastic. For past fifty years they have been fighting to find a treatment for this devastating condition. Today, they can say with real confidence that they are going to win that battle, added Dr Pohlschmidt.