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

Quantitative proteomic approach towards understanding and treating autism  

Autism is comprised of a clinically heterogeneous group of disorders, collectively termed 'autism spectrum disorders,' that share common features. Only an estimated 10 to 15 percent of autism cases are monogenic - caused by mutation in a single gene - but the molecular alterations in these disorders could reveal common pathogenic pathways shared by others across the spectrum. Studies of many of the mutations linked to autism in humans point to disrupted activity of synapses - the junctions between neurons - and altered synthesis of synaptic proteins. In particular, the levels of proteins related to the ability of a synapse to change in strength, termed 'plasticity,' seem to be altered in people with autism. The corresponding changes in network connectivity and performance may produce cognitive impairment. Mutations in monogenic disorders with high co-incidence with autism could lead to excessive or dysregulated synaptic protein synthesis, which may be one mechanism contributing to autism in humans. Peng Jin and Junmin Peng at Emory University have developed high-throughput proteomic analysis using metabolically labeled mice, providing an opportunity to systematically examine synaptic protein synthesis. They plan to compare the alterations of synaptic protein synthesis in various mouse models of autism-linked monogenic disorders, to determine whether there are any common alterations. Restoring normal expression of these synaptic proteins could become a promising therapeutic strategy for treating autism, and perhaps mental retardation as well. Project Status
NEW

2010

Funder Simons Foundation
Fiscal Year Funding $75,000.00
Current Award Period 2010-2012
Project Number 177799
Principal Investigator Jin, Peng
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? Private
Institution Emory University
State/Country Georgia
Web Link 1 Quantitative proteomic approach towards understanding and treating autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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