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FIGHTING Against Duchenne Muscular Dystrophy


A study on Duchenne Muscular Dystrophy, coordinated by Prof. Marina Bouché of the Sapienza Department of Anatomy, Histology, Forensics Medicine and Orthopedics, has highlighted the potential of a new drug treatment that, by inhibiting the PKCθ enzyme, reduces damage to muscular tissue and inflammatory response, promoting the regeneration and function of the tissue in an animal model of the disease.

Duchenne muscular dystrophy is a genetic disease that affects, on average, one out of every 3500 boys and causes the weakening of muscles tissue. This is caused by the absence of dystrophin, a protein that ensures the proper maintenance, operation and structural integrity of the heart and skeletal muscles.

There currently is no cure for this genetic disease and management strategies focus on anti-inflammatory therapies. "The use of glucocorticoid drugs with anti-inflammatory activity,” explains Professor Bouché “has a certain success; however, long-term treatment with these compounds induces atrophy and muscle loss, hindering any real benefits."

In a previous study, Professor Bouché demonstrated how genetically inhibiting the PKCθ enzyme, improves the repair and regeneration of skeletal muscle and reduces inflammation. This new study has investigated whether pharmacological inhibition of PKCθ may represent an alternative therapeutic strategy.

The treatment, which was conducted on young male mice suffering from Duchennes, has provided positive results in terms of the significant reduction of damage to muscle tissue and inflammation, as well as maintenance of muscle regeneration and significant functional recovery. Therefore, the new therapy developed by the research team emerges as a potential new strategy to combat the disease, and could soon be tested on human beings.

The research project has been published on EBioMedicine.

Marrocco V, Fiore P, Benedetti A, Pisu S, Rizzuto E, Musarò A, Madaro L, Lozanoska-Ochser B, Bouché M. Pharmacological inhibition of PKCθ counteracts muscle disease in a mouse model of Duchenne Muscular Dystrophy. EBioMedicine, to be printed (published online on January 7, 2017)