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

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

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. Project Status
ONGOING

2010

Funder Autism Speaks
Fiscal Year Funding $90,415.00
Current Award Period 2008-2010
Project Number 4936
Principal Investigator Jiang, Yong-Hui
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Epigenetics
Strategic Plan Objective New! 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.
Federal or Private? Private
Institution Baylor College of Medicine
State/Country Texas
Web Link 1 Maternal supplementation of folic acid and function of autism gene synaptic protein Shank3 in animal model (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Maternal supplementation of folic acid and function of autism gene synaptic protein Shank3 in animal model | $109,450.00 | 2009 | 4936
Maternal supplementation of folic acid and function of autism gene synaptic protein Shank3 in animal model | $110,000.00 | 2008 | 4936