Correcting Defects in Astrocyte Signaling in Fragile X Syndrome

Laurie Doering, PhD
Principal Investigator
Angela Scott, PhD
FRAXA Fellow
McMaster University
Ontario, Canada
2015-2016 Grant Funding: $90,000
Summary
Dr. Laurie Doering and Dr. Angela Scott at McMasters University studied astrocytes in Fragile X. Astrocytes, brain cells which support neurons, do not transmit signals. Several treatment strategies for Fragile X have been proposed based on correction of “astrocyte phenotypes”.
The Results
Results Published in Front Mol Neurosci 2017 Aug 29
Altered Developmental Expression of the Astrocyte-Secreted Factors Hevin and SPARC in the Fragile X Mouse Model
The Science
The intricate choreography of signals that are shared between nerve cells in the brain are responsible for the formation and preservation of the circuitry required for all basic neural functions. Although the communication of signals provided by and between neurons are essential for proper neural function, the neurons alone aren’t responsible for regulating this.
Astrocytes, a type of supporting cell located in the brain, are key participants in neural development and function that help regulate the signals driving communication. Defects in astrocyte signaling have been implicated in many disease states characterized by abnormal neural circuitry, such as Fragile X syndrome.
By identifying and replacing lost astrocyte signals to Fragile X brain cells, we hope to prevent or reverse the development of abnormal neural communication and restore brain functions associated with impairments in learning, memory and behavior. The assessment of the pathological mechanisms present in Fragile X astrocytes will offer new insights to the basis of social disability disorders and lead to novel interventional treatment approaches to Fragile X syndrome.