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

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.

Results: Lysogene Partners with Dr. Hervé Moine to Develop Gene Therapy for Fragile X
$90,000 Grant
Herve Moine, PhD
Principal Investigator
Andrea Geoffroy, PhD
FRAXA Fellow
IGBMC, France
2015 FRAXA Research Grant
$90,000 over 2 Years

Previous studies by other research groups had shown that many mRNAs are bound by FMRP, and many protein levels are alteredand 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.

Explore Current Fragile X Research

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

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