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Tamoxifen breast cancer can help, at least, slow down an incurable hereditary muscle disease. Researchers at the University of Geneva report with colleagues that the drug prolongs the life of mice with this disease.

Myotubular myopathy is a serious hereditary disease that affects one of the 50,000 newborn boys. A genetic defect causes muscle atrophy. In particular, due to the weakness of the respiratory muscles, this rare disease usually leads to death in the first two years of life.

Healing does not yet exist, but at least it can slow the progression of the disease: researchers from the universities of Geneva and Strasbourg have reported promising results in animal experiments with tamoxifen.

Tamoxifen has been used for many years in the treatment of breast cancer and has some interesting properties in terms of protecting muscle fibers, as announced by the University of Geneva. In a previous study, researchers had successfully tested the drug to affect the more common muscular disease, Duchenne muscular dystrophy. This applies to one of 3,500 boys; life expectancy is 30 years. Clinical trials are underway.

Based on these promising earlier results, scientists around Leonardo Skobotsy have now also tested the effectiveness of tamoxifen in mouse models of myotobular myopathy. They report the results in the journal Nature Communications.

Longer service life

However, these two diseases lead to muscle weakness in different ways: myotopulosis myopathy lacks an enzyme called myotobularin. Without it flows a protein called dynamin 2, which leads to muscle atrophy. Tamoxifen starts with Dynamin 2.

Mice with the same symptoms as children with myotobular myopathy lived twice as long as the lowest dose, with the highest dose, even seven times longer than untreated mice. The highest dose was – equivalent to the mouse body – that was used in breast cancer.

In addition, the drug slowed down progressive muscle paralysis or even caused it to stop. The treatment of muscle strength also increased significantly.

Early approach prevents paralysis

Researchers began treatment with tamoxifen when the first symptoms appeared in approximately three-week-old mice. The Canadian research team from Toronto began even earlier, and the mice had no signs of paralysis, writes the University of Geneva.

Meanwhile, there are also research efforts to treat a serious hereditary disease with the help of gene therapy. However, its effectiveness and safety should take years, says the author of the study, Olivier Dorchies of the University of Geneva.

Since tamoxifen is already approved for human use, and since clinical trials for Duchenne muscular dystrophy are already underway, the researchers hope that treatment with tamoxifen will receive much faster approval in myopular myopathy.


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