[September 2011] The results of Dr. Davide Gabellini’s work on a treatment for FSHD were released this August in an Advanced Online Publication from the highly regarded scientific journal Molecular Therapy. His results are extremely important for several reasons.
This is the first time a treatment has tested well for FSHD. Dr. Gabellini’s group worked with mice with a similar disease to human FSHD, where a protein called FRG1 is overproduced. They treated the mice with synthetic genetic material to block formation of the FRG1 protein. After a single injection the protein FRG1 was blocked in all of the muscles of their bodies for an extended period of time.
This reduction in FRG1 protein was associated with a real increase in normal muscle appearance, the presence of normal DNA and muscle proteins and an increase in muscle strength. Importantly, there were no adverse side effects of the treatment in these mice that had developed obvious signs of muscular dystrophy before the treatment.
Dr. Gabellini expects that similar types of treatments could also be used to correct other faulty genes thought to be causes of FSHD such as a gene called DUX4. He believes this approach can be used generally in other frequently inherited muscular degenerative syndromes. He also said that scientists know that there are at least 29 faulty genes associated inherited muscle diseases.
Dr. Gabellini stated that overall, these diseases affect as many as one individual in 2,400, making them the most common muscle disorders and that of the three most prevalent muscle diseases (Duchenne, Myotonic and FSHD), Myotonic and FSHD are frequently inherited disorders. He pointed out that research into these diseases has been largely neglected.
For more information on FSHD Global Research sponsored projects, please contact Glenn Pilkington, Manager, Grants and Research Development. Email:glenn.pilkington@fshdglobal.org.