With a 2015-2016 $90,000 grant from FRAXA Research Foundation, Dr. Herve Moine and Dr. Andrea Geoffroy aim to uncover the exact role of FMRP and to test a novel possible means to correct for FMRP absence in the mouse model of fragile X syndrome.
Previous studies by other research groups had shown that many mRNAs are bound by FMRP, and many protein levels are altered—and that the vast majority of these proteins are produced in excess in fragile X. Using new methods, these investigators determined which messenger RNAs are bound most tightly to FMRP, and how the production of the proteins encoded by those mRNAs is altered in fragile X.
Recently this team discovered something interesting: one mRNA is bound more strongly than all others, and the protein product of that mRNA is greatly reduced in fragile X. This protein is a critical regulatory enzyme involved in multiple signaling pathways, so the deficiency of this one protein could explain many of the different abnormalities observed in fragile X. Most importantly, there are available drugs which can increase production of this protein, and this project will test them in the fragile X mouse model.