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

Molecular and environmental influences on autism pathophysiology  

Multiple studies have reported abnormal brain growth in people with autism, reflected by a larger head size early in development. This feature, called "macrocephaly" is determined in part by the number of times a cell divides as the brain matures. Using a cell culture technique, this study will examine genetic mutations of two genes associated with autism spectrum disorders, phosphatase and tensin homolog (PTEN) and tuberous sclerosis complex (TSC), on cell size and number. In addition to genetic influences, environmental factors could influence head size and cell division in the developing brain through production of reactive oxygen species (ROS). At low doses that are not toxic to neurons, these molecules have been known to produce changes in cell number. The current study will examine if ROS stimulates cell division through a similar pathway as PTEN and TSC mutations. The effects of prenatal exposure to low levels of ROS on cells with and without mutations of the PTEN gene will be assessed in parallel models to determine the interaction of the two on both brain size and cell number. Project Status


Funder Autism Speaks
Fiscal Year Funding $0.00
Current Award Period 2007-2010
Project Number 1986
Principal Investigator Kornblum, Harley
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Gene-Environment
Strategic Plan Objective New! Green dot: Objective has greater than or equal to the recommended funding. 3SK. Support two studies and a workshop that facilitate the development of vertebrate and invertebrate model systems for the exploration of environmental risks and their interaction with gender and genetic susceptibilities for ASD by 2012. IACC Recommended Budget: $1,535,000 over 3 years.
Federal or Private? Private
Institution University of California, Los Angeles
State/Country California
Web Link 1 Molecular and environmental influences on autism pathophysiology (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Molecular and environmental influences on autism pathophysiology | $127,500.00 | 2009 | 1986
Molecular and environmental influences on autism pathophysiology | $150,000.00 | 2008 | 1986