Transcriptional Regulation of the Fragile X Gene (fmr1) in the Olfactory Bulb

With a $35,000 in grant from FRAXA Research Foundation, Dr. Justin Fallon and his team at Brown University studied systematic mapping of Fragile X granules in developing mouse brains, revealing a potential role for presynaptic FMRP in sensorimotor functions.

Justin Fallon, PhD, Brown University, FRAXA research grant
$35,000 Grant
Justin Fallon, PhD
Principal Investigator

Sandra Won, PhD
FRAXA Postdoctoral Fellow (2001)

Brown University
2001 FRAXA Research Grant
$35,000 (2001)

by Justin Fallon, 7/1/2001

Fragile X syndrome is caused by the absence of the FMR1 gene’s protein product, FMRP. However, little is known about the normal function and regulation of FMRP or how its loss leads to cognitive impairment. We do know that the translation of RNAs into proteins at synapses (the junctions between nerve cells) is essential for learning and memory. A growing body of evidence suggests a role for FMRP in RNA binding, transport, and/or translation. Intriguingly, FMR1 messenger RNA is present at the synapses and its translation can be stimulated by neurotransmitters. The close relationship between FMRP protein and message and RNA metabolism at synapses provides a pathway to link FMRP function at the molecular level to its role in higher functions in the brain. Therefore, an understanding of the translational regulation of FMRP is necessary for understanding the molecular mechanisms leading to Fragile X.

We are investigating the molecular mechanisms of activity-induced Fragile X protein synthesis using a combined molecular, cellular and biochemical approach in cultured neurons and in mice. Of special interest is the potential role of a particular process, recently identified in our laboratory, by which synaptic mRNAs are translated into proteins. The mRNAs encoding FMRP and a related protein, FXR2P, contain unique tags indicating that they may be regulated by this process. The overall goal of our studies is to understand the role FMRP plays in translating other proteins and thereby strengthening and/or weakening synapses and, ultimately, enabling learning and memory. Such information could contribute to designing strategies and treatments for overcoming the loss of FMRP in Fragile X syndrome.

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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