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

Study of fragile X mental retardation protein in synaptic function and plasticity  

Fragile X syndrome (FXS) is the most common inherited form of mental retardation and is caused by loss of function mutations in the Fragile X Mental Retardation gene (FMR1). Patients with FXS, as well as other forms of mental retardation, have an excess of dendritic spines as well as longer spines, suggesting that abnormal postsynaptic function, development, or plasticity contributes to the cognitive deficits of this disease. Fragile X Mental Retardation Protein (FMRP), the protein product of FMR1, regulates synapse development and plasticity, but precisely how this occurs is unknown. In this study, investigators will examine the cellular mechanisms by which FMRP regulates synapse development and plasticity. In particular, experiments will help determine how FMRP regulates the synaptic metabotropic glutamate receptor (mGluR), a molecule which holds promise as a therapeutic target for FXS and other autism spectrum disorders (ASDs). These results will help to determine the neurobiological basis of mental retardation and related disorders such as autism as well as test if mGluR antagonists are a suitable therapeutic strategy for FXS. Project Status


Funder National Institutes of Health
Fiscal Year Funding $392,087.00
Current Award Period 2008-2013
Project Number 5R01HD052731-03
Principal Investigator Huber, Kimberly
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Molecular Pathways
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 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? Federal
Institution University of Texas Southwestern Medical Center
State/Country Texas
Web Link 1 Study of fragile X mental retardation protein in synaptic function and plasticity (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A