Duchenne muscular dystrophy: genetic scissors to reduce the progression of muscular dystrophy

Scientific breakthrough! The CRISPR technique is based on the combination of a strand of RNA and an enzyme, once assembled, they work as a pair of scissors and can replace, cut or inactivate a gene. American researchers have managed to prevent the progression of muscular dystrophy in dogs with Duchenne muscular dystrophy through this method. The next step is the man.

2,500 people in France suffer from Duchenne muscular dystrophy according to Inserm. This genetic disease causes progressive degeneration of the muscles and eventually breathing difficulties and a decrease in heart beat.

The treatments proposed today to the patients allow only to act on the symptoms but nothing makes it possible to cure them. US researchers at UT Southwestern Medical Center have managed to use the CRISPR technique to reduce the progression of muscular dystrophy in a trial of a dog, a large mammal. It is a scientific breakthrough that opens the door to this technique in humans.

Nearly normal thresholds of dystrophin

Duchenne muscular dystrophy is linked to a genetic mutation that disrupts the production of "dystrophin", a protein necessary for the functioning of muscles.

American scientists have used what are known as "molecular scissors": the CRISPR technique, which allows to modify a specific sequence of DNA. This method restored the dystrophin level in muscles to 92% of its normal amount.

Increase life expectancy

"Children with Duchenne muscular dystrophy often die because their heart no longer has the power to pump or because their diaphragm becomes too fragile to breathe successfully.This encouraging level of dystrophin could prevent this from happening", details Eric Olson, director of the Center for Regenerative Medicine and Science at UT Southwestern's Medical Center.

The progression of Duchenne muscular dystrophy is fast: children experience the first symptoms between 3 and 5 years old, during adolescence, most of them are in a wheelchair, around 20, they need assistance, and their age of death is early, on average it is between 30 and 40 years old.

99.9% of patients are boys

Researchers must continue their trials to ensure that dystrophin levels remain stable over time and that this technique does not cause side effects.

In all cases, this research represents a hope for patients waiting for treatment. Duchenne disease affects 99.9% of boys, because the gene responsible for the disease is located on the X chromosome. Every year in France, between 150 and 200 new cases are detected.

Video: PSTI Data Shows PLX-PAD Cells Effective in Treating Duchenne Muscular Dystrophy (December 2019).