Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Coordinated control of synapse development by autism-linked genes  

Fragile X syndrome, the most common inherited form of autism, is caused by mutations that effectively turn off the FMR1 gene. People with the syndrome, as well as experimental mice lacking the FMR1 gene, show no abnormal changes in brain structure, but their cortical neurons have more dendritic spines — the sites of signaling connections, or synapses, between nerve cells. Dr. Huber and her colleagues recently found that FMRP, the protein encoded by FMR1, regulates the number and function of synapses in the hippocampus, an area of the brain involved in memory and spatial navigation. Other autism-linked genes are known to regulate synapse development and function, but whether and how they interact with FMRP has yet to be investigated. Huber's team will look for any changes in the function and structure of synapses in the hippocampi of mice lacking FMRP or other pathway genes. The scientists will also attempt to understand how the entire process is governed by signals from both the synapses and the main body of the nerve cell. The identification of other genes that interact with FMRP will begin to provide a framework for understanding the contribution of autism-linked genes to synapse development. Project Status


Funder Simons Foundation
Fiscal Year Funding $75,000.00
Project Number 137345
Principal Investigator Huber, Kimberly
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Private
Institution University of Texas Southwestern Medical Center
State/Country Texas
Web Link 1 Coordinated control of synapse development by autism-linked genes (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Coordinated control of synapse development by autism-linked genes | $150,000.00 | 2010 | 137345