New discovery changes understanding of Duchenne muscular dystrophy

New discovery changes understanding of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is caused by a genetic mutation and affects one in 5,000 boys born. Since the affected gene is located on the

Children with this condition require wheelchairs in their teens and most die by or before they reach the age of 30.

It was previously widely believed that DMD begins in the myofibers - cells involved in contraction that make up the majority of every muscle. So the search for a treatment has long focused on these cells and how to deliver therapeutics to them.

New research has shown that the disease begins much earlier in cells that will later become muscle fibers, called myoblasts.

The study, published in eLife, is part of an ongoing collaboration between scientists from the University of Portsmouth, CNRS, I-STEM, AFM in France and the Maj Institute of Pharmacology of the Polish Academy of Sciences

The findings are significant because they change the way we understand the disease. We found that the functions of myoblasts are severely impaired by the lack of dystrophin and that these cells are crucial for normal muscle growth but also for regeneration.

Due to the malfunction of these myogenic cells, damaged muscles cannot be repaired effectively. And every myofiber that is repaired must eventually be replaced, which is not possible without myogenic cells, so it becomes a vicious circle.”

Darek Gorecki, senior author, Professor, School of Pharmacy and Biological Sciences, University of Portsmouth

Last year, the team published results modeling DMD to study its evolution from initial trigger to first manifestation. They found evidence of abnormalities in the embryo before birth. Most boys are diagnosed with DMD between the ages of two and five. At this point, the damage to her body is already significant. This delay in recognizing the disease potentially prevents therapeutic interventions that could help slow, if not stop, disease progression.

“We are currently focusing on the late stages of this disease by treating patients in their teens, when muscle degeneration has already taken its toll,” Professor Gorecki added.

"If we instead try to correct cells that are at the beginning of the pathological process, we may be able to delay muscle degeneration and extend a patient's lifespan. We can do this by identifying and treating DMD newborns and targeting myogenic cells."

The paper says new technologies could be key to developing effective treatments for this devastating disease.

Source:

University of Portsmouth