Dysfunction in Sensory Circuits in Fragile X Syndrome
Abstract
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual dysfunction. It is marked by devastating alterations in cognition and behavior that originate in infancy. Many of the core symptoms of the disorder arise from altered development of the connections between neurons in the infant brain which causes the long-term changes in the ability of the brain to process information, that contributes directly to the challenges faced by FXS individuals including hyperarousal, social withdrawal and anxiety. Studies from our laboratories on a mouse model of FXS have found that early intervention with an FDA approved drug (bumetanide, targeting Cl- transporters in neurons) can reverse many of the functional problems associated with sensory information processing in the brain of the mouse model. This project is designed to understand a critical problem in the FXS field, address important knowledge gaps, and ultimately to determine whether we can find ways to rectify the development of brain circuits that contribute to altered brain activity. The ultimate outcome will be to firmly establish a preclinical mechanism of how FXS changes brain function. The long-term benefit will be to FXS patients if we can establish that treatments targeting these mechanisms that safely and effectively rectify altered activity in the brain, and thereby address some of the most debilitating symptoms of the disorder in children with FXS.
Document Details
- Document Type
- Technical Report
- Publication Date
- Aug 01, 2022
- Accession Number
- AD1188247
Entities
People
- Anis Contractor
Organizations
- Northwestern University