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

The role of the autism-associated gene tuberous sclerosis complex 2 (TSC2) in presynaptic development  

Tuberous sclerosis complex is a genetic disorder caused by mutations in the gene TSC2. Many people who suffer from tuberous sclerosis complex also develop autism, but it is not understood how mutations in TSC2 cause autism. In this research project, the fellow will test the hypothesis that TSC2 is involved in the process of synaptic editing and that loss of TSC2 causes neurons to have too many synapses. To study the effects of the TSC2 gene product on synaptic editing, Dr. Williams will examine synaptic development in neurons from rats that have been genetically engineered to lack TSC2. She will determine whether the loss of TSC2 causes changes in the numbers of synapses made by these neurons. She will also examine the development of synapses in real time to explore the possibility that TSC2 affects the dynamics of synapse formation and editing. This study will help us further understand the function of the disease-causing gene TSC2 in neurons and may point towards the development of new therapies in the treatment of autism and tuberous sclerosis complex. Project Status
ONGOING

2009

Funder Autism Speaks
Fiscal Year Funding $54,000.00
Project Number 4908
Principal Investigator Williams, Megan
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Private
Institution University of California, San Diego
State/Country California
Web Link 1 The role of the autism-associated gene tuberous sclerosis complex 2 (TSC2) in presynaptic development (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects The role of the autism-associated gene Tuberous Sclerosis Complex 2 (TSC2) in presynaptic development | $55,000.00 | 2008 | 4908
The role of the autism-associated gene tuberous sclerosis complex 2 (TSC2) in presynaptic development | $56,000.00 | 2010 | 4908