Successful test against fatal Duchenne muscular dystrophy


Good news for children suffering from Duchenne muscular dystrophy. Dutch scientists from the Leiden University Medical Centre (LUMC) and the biotech company Prosensa developed a genetic technique for the treatment of Duchenne muscular dystrophy.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is a serious hereditary muscular disorder that affects the muscles and weakened. The first symptoms are often visible to the second year of life. In time, the affected muscles could no longer be used. Duchenne muscular dystrophy affects almost always boys. In the west part of the world Duchenne muscular dystrophy occurs to one in four thousand newborn boys.

Cause
A defect in the dystrophy gene on the X chromosome causes a deficiency of the protein dystrophin. This protein gives the muscles resilience and firmness. The muscles damage by the lack of dystrophin and they are dying in the long run. They disappear and are replaced by connective tissue. Duchenne muscular dystrophy is a hereditary disease that is transmitted through the mother. Sons of a carrier have 50% probability of the disorder, daughters have 50% chance to be carrier. In 30% of cases, the disease develops spontaneously after which this can be transferred again.

Succesful test

The researchers have developed a method that restores the damage in the largely defective gene. The method was successfully tested in mices. In repaired mice cells the dystrophin protein has been found.
Now the study results also show that the test was successfully tested in four boys.

The plan next year is to do a comprehensive test with fifteen boys. It has been expected that within five years a therapy is available.

Read more....

december 27th, 2007

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