Facioscapulohumeral muscular dystrophy or FSHD is muscle disorder, acquired genetically, which affects the upper part of the body like face, shoulder blades, and upper arms. The symptoms for the disease are characterised by weakness of the muscles around the eyes and mouth, abdominal muscles, shoulders, and lower leg. The symptoms usually show up before the age of 20. FSHD may get passed on from either of the parents or in some cases, also happen without a family history. The disease has no effect on the functions of the respiratory system or the heart and people with the disease have a normal life span. However, a cure is yet to be found for this disease.
An associate professor of Biochemistry and Molecular Biology at Saint Louis University, Fran Sverdrup, says that he has found the rebel protein in the cell. He published his research in the Journal of Pharmacology and Experimental Therapeutics after securing his Ph.D. Sverdrup got the motivation to research on this particular disease and look for a way forward after his own daughter was diagnosed with FSHD. He says, “We have been working to find a safe drug that would ‘turn off’ the toxic gene that causes FSHD. Now we have demonstrated that we can do this in an animal model with a drug that can be taken in pill form."
His research found how the DUX4 gene, which is generally silent in normal skeletal muscle, was causing the death of the cells and muscle degeneration after not being able to get expressed properly. These abnormally activated genes affect the FSHD cells leading to the production of potentially toxic proteins. The only pathway to the cure for FSHD is blocking those erroneously activated genes or the protein produced. A p38 inhibitor that suppresses the toxic DUX4 has begun its clinical trial on patients. Sverdrup received a research grant from Saint Louis University Research Institute to help further his research and eventually find success in finding a cure for FSHD.
Subarna Basu