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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

Maternal supplementation of folic acid and function of autism gene synaptic protein Shank3 in animal model

Principal Investigator

Principal Investigator

Jiang, Yong-Hui

Description

Description

The genetic basis of autism has been well established. In addition to changes in deoxyribonucleic acid (DNA) structure, other modifications, such as methylation or histone acetylation, may change gene expression in the absence of heritable mutations in DNA. Previous studies have indicated that environmental toxicants can influence gene expression through epigenetic mechanisms. Dr. Jiang has been working with a strain of mouse which have mutations in both SHANK 3 and Methylenetetrahydrofolate reductase (MTHFR), both implicated in autism spectrum disorder. He hypothesizes a link between folic acid and DNA methylation of SHANK3, producing abnormal gene expression. His lab will use this animal model to study whether administration of folic acid will increase 5-methylenetetrahydrofolate (5-MTHF) and cause DNA hypermethylation of synaptic proteins like SHANK3. Changes in the methylation status of these genes would not change the structure but may change the function of the gene such that differing levels of protein are produced, altering brain function and synaptic plasticity. Folic acid has been proven to reduce the incidence of major birth defects and is an important component of prenatal vitamins; however, this study will examine whether some mothers may be vulnerable to high doses of folic acid due to genetic variants of this pathway.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

87793

Current Award Period

Current Award Period

2008-2012

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 3SJ. Support at least three studies that focus on the role of epigenetics in the etiology of ASD, including studies that include assays to measure DNA methylations and histone modifications and those exploring how exposures may act on maternal or paternal genomes via epigenetic mechanisms to alter gene expression, by 2012. IACC Recommended Budget: $20,000,000 over 5 years.

Project Link

Project Link

Maternal supplementation of folic acid and function of autism gene synaptic protein Shank3 in animal model (External web link)

Institution

Institution

Baylor College of Medicine

State/Country

State/Country

Texas

Project Number

Project Number

4936

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Maternal supplementation of folic acid and function of autism gene synaptic protein Shank3 in animal model | 90415 | 2010 | 4936
Maternal supplementation of folic acid and function of autism gene synaptic protein Shank3 in animal model | 109450 | 2009 | 4936
Maternal supplementation of folic acid and function of autism gene synaptic protein Shank3 in animal model | 110000 | 2008 | 4936

 
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