potential fragile x treatment

By Machlan Sawden

Work at Rockefeller University’s Laboratory of Chromatin Biology and Epigenetics has revealed a potential treatment for the most prominent genetic cause of intellectual disability and autism, Fragile X. This disease stems from a single defective gene called FMRP. Normally, FMRP binds to messenger RNA that codes for chromatin remodelers which are responsible for the rate of gene expression, limiting their production. The mutated gene cannot regulate chromatin remodelers, and uninhibited chromatin remodeling activity causes an increase in the production of proteins involved in neural function, specifically those associated with the synapses through which information is exchanged. Too much of these proteins alters the complex signaling chemistry of our neurons, which is the cause of Fragile X’s symptoms. However, Rockefeller’s study author and postdoctoral researcher Erica Korb and her team have identified a potential treatment for the condition. While drugs to inhibit the proteins causing the signaling errors have been mostly ineffective, Korb’s group found that inhibiting remodeling protein Brd4 led to a return to normal number of neuronal synapses and a decrease in the behavioral symptoms of Fragile X in animal models. The interfering proteins had been prevented from being synthesized in the first place, restoring normal function. This breakthrough has implications beyond that of just treating Fragile X, for other research done by Rockefeller’s Robert B. Darnell suggests that other autism spectrum disorders involve malfunctioning or overactive chromatin remodeling proteins as well. Their work further reveals the mystery of gene expression and how it affects human behavior.


Rockefeller University. (2017, November 3). Potential new treatment for Fragile X targets one gene to affect many. ScienceDaily. Retrieved November 7, 2017 from www.sciencedaily.com/releases/2017/11/171103134639.htm