Study provides new hope for children suffering from rare muscle diseases
Myofibrillar myopathies rare genetic diseases lead to progressive muscle wasting, affecting muscle function and causing weakness. Using the tiny zebrafish, Associate Professor Robert Bryson-Richardson from the School of Biological Sciences at Monash University and his team of researchers were able to show that a defect in protein quality control contributes to the symptoms of the diseases.
The most severe form of the myofibrillar myopathy, caused by a mutation in the gene BAG3, starts to affect children between 6 and 8 years of age. The disease is usually fatal before the age of 25 due to respiratory or cardiac failure.
In the case of Alexander (who was born in 2003) clinicians were able to draw on the study's information to prescribe metformin - which is so far proving positive.
Associate Professor Bryson-Richardson said the repurposing of existing drugs provided a very rapid route to clinical use, as there was already existing safety data for the drug. This is especially important for these rare diseases as the patient numbers are low, meaning it might not be possible to do clinical trials with novel drugs.
Stephen and Laura Zah are the founders of the charitable organisation Alexander's Way Research Fund which they established to promote and sponsor research into myofibrillar myopathies.
(Content and Image Courtesy: https://www.eurekalert.org/pub_releases/2020-10/mu-spn101320.php)