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Myopathy: The promise of pharmacogenetics

Histopathology of gastrocnemius muscle from patient who died of pseudohypertrophic muscular dystrophy, Duchenne type. Cross section of muscle shows extensive replacement of muscle fibers by adipose cells. (WiKi)
Histopathology of gastrocnemius muscle from patient who died of pseudohypertrophic muscular dystrophy, Duchenne type. Cross section of muscle shows extensive replacement of muscle fibers by adipose cells. (WiKi)
 

This is the beginning of a thrilling history of science and might in the long run transform the lives of children and give them at least in part, a certain degree of mobility. The Lancet published the results of a test on a small group of patients suffering from Duchenne muscular dystrophy showing that we can with the gene therapy still called "pharmacogenetics" restore in part the production of a protein deficient in this disease.

Duchenne muscular dystrophy (DMD) is started in infancy by muscle weakness that moves progressively towards a loss of walking and a major handicap. The symptoms are caused by a mutation in a gene on the X chromosome coding for dystrophin. This protein is essential for the contraction of muscle cells and heart.

The study in the UK on 19 patients and published in The Lancet showed that it is possible to restore the expression of this protein through a treatment strategy known as "exon skipping." Small molecules called antisense able to achieve this exon skipping, are a kind of molecular plane. They remove the diseased part of a gene to restore the production of the protein it controls. The coding exons are fragments of the gene. Clearly, these are short-circuit the aberrations of the genetic code, in order to partially restore the defective protein production.

The trial funded by the British Institute of Research and the American AVI BioPharma target exon skipping 51, which concerns 15% of patients with Duchenne. A total of 19 boys from 5 to 15 years still were able to walk for twelve weeks of intravenous treatment (called AVI-4658). For seven of them, the answer was "significant" in terms of restoration of dystrophin expression. Researchers showed no changes in muscle function, such as improved walking distance, but it was not the objective of this trial. "AVI-4658 has the potential to improve the natural history of Duchenne muscular dystrophy and must now be tested in clinical trials of efficacy," the researchers estimated.

Very promising results of another experimental treatment for skipping exon 51, carried by companies Prosensa and GSK were presented in May. Administered subcutaneously for 48 weeks in 12 children aged 5 to 15 years, PRO-051 received an average increase in walking distance (covered in six minutes) of thirty meters. This is the first time a treatment has not only slowed the progression of Duchenne muscular dystrophy in small patients, but improved their walking distance.

 
 
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