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

Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model  

Fragile X syndrome (FXS) is the most common inherited form of mental retardation and is caused by loss-of-function mutations in the Fmr1 gene. Approximately 30% of FXS patients are diagnosed with autism, and 2-5% of all autistic children have FXS. As result, Fmr1 is currently one of 3 genes most strongly linked to autism. Therefore, the mouse model of FXS may be useful in determining what causes or facilitates autism in humans. Dr. Huber's lab utilizes electrophysiological methods that directly measure the electrical-chemical nature of neuronal communication in brain circuitry. The primary means of communication in brain circuits is the excitatory synapse. Preliminary experiments provide evidence that excitatory synaptic communication is dramatically decreased in the Fmr1 mutant mouse brain during development. In this project the researchers will further characterize this phenomenon, identify the specific components of the excitatory synapse that are responsible for the decrease in synaptic communication, and test whether intervening with the molecular pathways will reduce the synaptic deficits found in the FXS mouse model. Project Status
ONGOING

2009

Funder Autism Speaks
Fiscal Year Funding $0.00
Project Number 2086
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 Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model | $127,500.00 | 2010 | 2086
Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model | $150,000.00 | 2008 | 2086