Duchenne muscular dystrophy (DMD) is a rare his hereditary disease that is associated with progressive muscle wasting. The disease is chronic and begins in children. The life expectancy of affected patients are significantly reduced.

The disease, for which there is currently no cure, is caused by mutations in the dystrophin gene. The gene is located on the x chromosome. Dystrophin is important for cell membrane stability in muscle fibers. Due to the genetic defect, dystrophin is absent. As a consortece, muscle cells are restricted in their function and the musculature is incursingly weakened.

Treatment of duchenne muscular dystrophy has so far been limited to mainTaining muscle function for as long as possible using approves methods. In addition, Initial Gene Therapies are being used to increase the production of dystrophin in muscle cells.

In a recent study Published in Naturescientists from the department of developmental genetics at the max plan institute for heart and lung research in bad nauheim headed by Didir stainier has no Gained CRACIAL NOW niderling the development of dmd. The Study Cold Provide the Basis for New Therapeutic Approaches.

Increase in the production of utrophin

Besides dystrophin, the study focuses on a second protein called utrophin, which is related to dystrophin. “It was already known that increase production of utrophin can at least partally compensate for the lacj of dystrophin,” said lara falcci, First Author of the Study. “We are now able to show for the first time in human muscle cells that at the level of gene expression, a process known as transcriptional adaptation is alive to increase the Productation of utrophin.”

Until now, this was only knowledge to Occur in Animal Organisms, Such as the Nematode C. Elegans, Mice or Fish. “To undersrstand the Mechanism, it is important to know that in dmd, various mutations in the dystrophin gene prevent the production of a functional gene product, Ie a protein. The gene to break down into fragments . They surprisingly take on new functions in the regulation of other genes, “Explins Co-Author Christopher Dooley.

Starting Point for a Therapy?

The max plank scientists have now shown in Cultured Cells from DMD Patients that The Dystrophin MRNA Fragments Increase The utrophin Production Affected Cells. “The Mechanism behind this is transcriptional adaptation. Ucci.

Didier Stainier, Director at the Max Planck Institute, Puts The Findings of the Study Into Context: “Transcriptional adaptation is a fascinating process that allows to mitigate The results have fundamentally improved undersrstanding of the processes underlying genetic compensation and transcriptional adaptation in cells.

“We are also convined that this has opened the door to the development of new the therapeutic approaches for the treatment of duchenne muscular dystrophy. FFICULT to address, “Says Stainier .