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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Quantitative proteomic approach towards understanding and treating autism

Principal Investigator

Principal Investigator

Jin, Peng

Description

Description

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.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

75000

Current Award Period

Current Award Period

2010-2012

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

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.

Project Link

Project Link

Quantitative proteomic approach towards understanding and treating autism (External web link)

Institution

Institution

Emory University

State/Country

State/Country

Georgia

Project Number

Project Number

177799

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Quantitative proteomic approach towards understanding and treating autism | 75000 | 2010 | 177799
Quantitative proteomic approach towards understanding and treating autism | 112500 | 2011 | 177799

 
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