Author: Bolysbek Dana
Editor: Merentsova Anastasia
Myofibrillar myopathies are rare genetic diseases that lead to progressive muscle wasting, thus affecting muscle function and causing weakness.
Scientists have conducted an experiment on tiny fish of the zebrafish genus. Research has shown that a defect in protein quality control contributes to the onset of disease symptoms. The researchers further tested more than 75 drugs that help remove these damaged proteins in zebrafish models and identified nine that were effective. An important point: two of these drugs are already approved for human use.
One drug, metformin, which is commonly used to treat diabetes, removes damaged protein in fish, prevents muscle breakdown, and restores their swimming ability.
The most severe form of myofibrillar myopathy, caused by a mutation in the BAG3 gene, begins to affect children as young as six years of age. The disease is usually fatal before the age of 25 due to respiratory or heart failure.
Associate Professor Bryson-Richardson noted that the repurposing of existing drugs provided a very fast track to clinical trials, as there is already evidence of the safety of metformin. This is especially important for these rare diseases, as the number of patients is small, which suggests that clinical trials of new drugs may not be possible. At the moment, metformin is already actively used in patients with myofibrillar myopathy and shows positive results.
Source: https://medicalxpress.com/news/2020-10-children-rare-muscle-diseases.html
