Discovery Could Lead to New Duchenne Muscular Dystrophy Treatment

According to a story from, a team of researchers from the Universities of Exeter and Nottingham have recently completely a study that could lead to the development of a new treatment for Duchenne muscular dystrophy (DMD) that could serve as a safer alternative to steroids. The approach involved targeting the mitochondria of affected cells in a mouse model of the disorder.

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a neuromuscular disease, and it is one of the more severe types of muscular dystrophy. It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. As an X-linked genetic disease, boys are mostly affected, with girls only occasionally displaying mild symptoms. The disease is caused by mutations of the dystrophin gene. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. Lifespan is usually into the thirties with good care. Better treatments for this disease are urgently needed. To learn more about Duchenne muscular dystrophy, click here.

Study Findings

The researchers detected that the affected mice had reduced levels of certain metabolic enzymes that are responsible for generating hydrogen sulfide, which is a gasotransmitter. When treated using a compound designated NaGYY, the lost hydrogen sulfide was replaced and some of the indicators of the disease, such as defects in the muscles and mitochondria, were reversed, leading to symptom improvement comparable to steroids such as prednisone. 

However, the scientists found that targeting the mitochondria specifically with another compound called AP39 was able to cause comparable benefits but with a much smaller dose. Ultimately, the findings indicate that hydrogen sulfide deficit appears to play a role in the disorder and that it is possible to target this deficit with a treatment that has comparable impacts to steroids but without the potential for serious side effects, such as a weakened immune system and bones.

The University of Exeter team aims to pursue the commercial development of a treatment based on the results of this study.

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