Exosomes as a Source of Therapeutic Biomarkers in Experimental Models of Fragile X Syndrome
Principal Investigator
FRAXA Fellow
Rome, Italy
Summary
How can a blood test give an accurate picture of brain activity? With this grant from FRAXA, Dr. Martire and Dr. Boussadia will try to use unique particles called exosomes – which can travel from brain cells to the blood stream – to evaluate the effects treatments are having on the brain.
If this project is successful, the Fragile X community would have new blood tests to assess the effectivement of treatments and to help optimize the dose for each individual.
The Science
Biomarkers Are Needed to Evaluate Fragile X Treatments
The Fragile X field urgently needs molecular tools to reliably and objectively measure the effects of potential treatments, called biomarkers. Despite efforts by many teams, truly useful biomarkers are not yet available.
Fragile X syndrome (FXS) is primarily a disorder of the brain, but brain cells are not easily accessed, so we look to blood-based measures instead. The problem with blood-based biomarkers is that they do not necessarily reflect what is happening in the brain. Changes found in blood cells might not match changes in brain cells.
A Potential Solution: Exosomes, Which Travel from Brain to Blood
Extracellular vesicles are particles secreted by all living cells into the spaces between cells. They are key components of cell-to-cell communication. One type of vesicles, exosomes, could be used to develop biomarkers to reliably predict drug responses. Small enough to pass through the Blood-Brain-Barrier (BBB), exosomes produced by brain cells can reach the bloodstream, where they can be easily accessed and measured.
Our working hypothesis for this project is that analyzing exosomes in blood in experimental models could provide a powerful tool to detect and quantify new Fragile X syndrome biomarkers. They could serve as a magnifying glass to accurately track these markers and assess how they react to potential medications.
With this innovative approach, we hope to provide novel insights into FXS cell signaling alterations and to identify biomarkers useful for preclinical testing of Fragile X syndrome treatments.
