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

Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders  

Vijaya Ramesh and her colleagues will investigate whether genes linked to tuberous sclerosis are also associated with autism spectrum disorders. The TOR pathway, which is named for a key protein that receives information on the cell surface, controls the growth of many cells and regulates the connections neurons make with each other. Without this pathway, neurons have trouble finding each other or signaling to each other, two potential deficits in autistic brains. Ramesh and her colleagues plan to examine the genes of several components of the TOR pathway, looking for mutations that are associated with autism. By narrowing their focus, the researchers will be able to analyze more samples (from about 300 autistic individuals), and with a greater attention to detail in the candidate genes. Once one mutation is linked to autism, the researchers can try to find the mutation among more people with autism to make the correlation stronger. The team will also perform assays in cultured neurons to see how the mutations affect TOR pathway activity. The mutations associated with tuberous sclerosis often remove the negative regulators of the TOR pathway, allowing it to signal uncontrolled; the relationship between the two disorders suggests that autism-linked mutations would have a comparable effect on TOR pathway signaling. If so, the findings would hint at a new therapy for autism, perhaps based on the available drugs that can efficiently inhibit the TOR pathway. Project Status
ONGOING

2009

Funder Simons Foundation
Fiscal Year Funding $172,824.50
Project Number 95345
Principal Investigator Ramesh, Vijaya
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 Massachusetts General Hospital
State/Country Massachusetts
Web Link 1 Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders | $83,403.00 | 2010 | 95345
Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders | $178,843.00 | 2008 | Project number unavailable