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

Autism and SNPs in the IGF pathway  

The interconnected insulin-like growth factor (IGF), mammalian target of rapamycin (mTOR), and p53 signaling pathways play many important roles in cellular function, including regulation of cell growth and death, sensing of glucose and nutrient levels, and response to stress and DNA damage. Defects in the three pathways have been implicated in disease. Drs. Notterman and Levine believe the pathways may also act on the central nervous system to contribute to autism. Several genes in the three pathways — such as the PTEN and tuberous sclerosis genes — have already been implicated in autism. Mutations in PTEN have been found in individuals with autism, and experimental mice lacking the gene have defects in their central nervous system that lead to behavioral changes. The tuberous sclerosis genes have also been directly linked to autism. Given these preliminary findings, Notterman and Levine plan to look for links to autism in a set of 14 genes from the three pathways. The researchers propose to analyze variations in the genes' sequences to identify specific variations — and combinations of these variations in single and multiple genes — that occur more frequently in individuals with autism than in the general population. Once these autism-linked sequence variations are identified, the researchers plan to examine their effects at the molecular level, including whether they alter the resulting proteins' expression, function and interactions with other proteins. The researchers also plan to find any autism-linked variations in genes that are regulated by androgens or estrogens, or genes that are linked to the X or Y chromosomes, as these variants may help explain why autism occurs at a much higher rate in males. Project Status
ONGOING

2009

Funder Simons Foundation
Fiscal Year Funding $112,500.00
Project Number 122280
Principal Investigator Levine, Arnold
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Private
Institution Princeton University
State/Country New Jersey
Web Link 1 No URL available.
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Autism and SNPs in the IGF pathway | $150,000.00 | 2008 | Project number unavailable