Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Mode

Characterization of Microglia Transcriptional Profile in Fmr1 KO Mice Mode

Antonella Borreca, PhD
Principal Investigator

Zaira Boussadia, PhD
Co-Principal Investigator

CNR – Institute of Neuroscience
Italy

2021 Grant Funding: $90,000

University Total Funding: $90,000

Summary

The brain is much more than just neurons. Another key kind of cell is microglia, which serve as the brain’s immune defense. When hyper-activated, as is the case with Fragile X mice, inflammation can occur in the brain tissue. This occurs in a variety of other disorders too, including Alzheimer’s, Huntington’s disease, and ALS.

With this grant, the team will identify the pathways responsible for this excessive activation and attempt to reverse the excess. If they can correct this using drugs, they will be able to identify a new potential treatment for Fragile X solving one more piece of the Fragile X brain puzzle.

The Science

By Antonella Borreca, PhD

Almost all research on the Fragile X protein FMRP is in neurons. But what about the other key cells of the brain, astrocytes and microglia?

We have found hyperactivated microglia in Fragile X mice. Interestingly, activated microglia are found in other disorders including Alzheimer’s disease (AD), Huntington’s disease, and Amyotrophic Lateral Sclerosis (ALS) and likely also Alzheimer’s.

With this grant, we will identify molecular pathways responsible for the activated state of microglia in Fragile X mice and then reduce this excess activation, using either drugs or genetic engineering. If we see improvements at the molecular, behavioral and morphological levels in mice, then we will have found a new approach to treatment of 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