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

Presynaptic fragile X proteins  

This is an NIH Pathway to Independence Award, which provides an opportunity for promising postdoctoral scientists to transition from mentored to independent research support. Fragile X syndrome (FXS) is the leading single gene cause of intellectual disability and autism. FXS is caused by mutations in the gene encoding the RNA binding protein fragile X mental retardation protein (FMRP). In the absence of FMRP, synaptic plasticity is altered. Both intellectual disability and autism likely result from impairments in a restricted set of neural circuits. This lab has recently described a novel structure, the Fragile X granule (FXG), that is expressed presynaptically in a subset of circuits, including some implicated in the etiology of autism such as frontal cortex, cerebellum and amygdala. Some of the symptoms of FXS and autism may arise from perturbations in presynaptic FMRP. These experiments will extend and deepen understanding of presynaptic FMRP and FXGs by characterizing the expression and activity-dependent regulation of presynaptic FMRP in vivo, identifying FXG-associated RNAs, and determining domains of FMRP required for FXG formation and presynaptic differentiation. Findings from these studies will elucidate how presynaptic FMRP contributes to normal cognition and how its loss contributes to the phenotypes observed in FXS and potentially autistic patients. Project Status


Funder National Institutes of Health
Fiscal Year Funding $90,000.00
Current Award Period 2010-2012
Project Number 1K99MH090237-01
Principal Investigator Akins, Michael
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 Brown University
State/Country Rhode Island
Web Link 1 Presynaptic fragile X proteins (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Not available at this time. This functionality is experimental.