Function of FMRP and Test of a Novel Therapeutic Approach in a Fragile X Mouse Model

Function of FMRP and Test of a Novel Therapeutic Approach in a Fragile X Mouse Model

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PHerve Moine, PhD
Principal Investigator

Andrea Geoffroy, PhD
FRAXA Fellow

IGBMC
Illkirch, France

2015-2016 Grant Funding: $90,000

Summary

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.

The Science

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 that one mRNA is bound more strongly than all others, and the protein product of that mRNA is greatly reduced in Fragile X. The Fragile X protein (FMRP) regulates production of the critical enzyme DgkK, 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 DgkK, and this project will test them in the Fragile X mouse model.

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Global Leader in Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

Explore Current Research Grants
Help Fund the Cure