A study published recently in Science Advances explores a new approach to improve treatment of Duchenne muscular dystrophy (DMD) through inhibiting the protein EZH2.
The current standard treatment for DMD is steroids, which help slow the development of the disease by reducing inflammation-induced muscle damage. However, steroids can cause a number of side effects, including weight gain, bone density loss and behavioral changes, and scientists don’t fully understand how steroids work to slow DMD at a molecular level. Therefore, finding new therapies or ways to improve current treatment options is crucial.
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In an effort to better understand the molecular and cellular mechanisms of steroid treatment and to search for new potential therapies, researchers analyzed individual muscle cells from humans and mice with DMD both with and without steroid treatment.
The analysis revealed that a protein called EZH2 was highly active in satellite cells, stem cells that are responsible for muscle regeneration, but don’t function properly in patients with DMD.
The researchers then tested whether blocking EZH2 with an inhibitor drug had any effect on the muscle cells of mice with DMD. The results showed that the treatment improved muscle health and function when used alongside steroids.
“Collectively, our comparative analysis of human patients and a mouse DMD model have unveiled genes and pathways that exhibit selective down-regulation in immune cells and concurrent up-regulation in muscle organizational cells,” the researchers concluded. “This finding suggests a potential therapeutic target with promising implications for the treatment of DMD.”
This study was experimental, and the long-term effects of EZH2 inhibitors — particularly in humans — are unknown. The researchers say future studies are needed to fully understand how EZH2 inhibitors work, see if they have the same therapeutic benefits in humans with DMD and ensure they don’t cause any unintended side effects.
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