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

Molecular basis of autism associated with human adenylosuccinate lyase gene defects  

Adenylosuccinate lyase (ASL) deficiency is a rare metabolic disorder that results in autistic features. It is caused by mutations that decrease activity of the adenylosuccinate lyase enzyme which is essential for nucleotide synthesis. Numerous disease-related ASL mutations have been identified, but their effects are unknown because the instability of human ASL has made experimentation difficult. Dr. Coleman's lab has recently found a solution for stabilizing human ASL, and her research program is now poised to characterize normal and mutant ASL. Dr. Coleman's fellow will conduct experiments to compare the functions of normal and mutant ASLs. The mutant forms of the enzyme will be engineered to mimic six of those found in human ASL deficiency. The enzymes will be characterized by catalytic activity, binding studies, and biophysical measurements to evaluate their size, shape, and stability. The researchers expect to find that mutant forms of ASL have altered binding sites or structures, both of which would hinder the enzyme's function. The hope is that understanding the differences in function between the various ASL forms can illuminate the biological pathways that, when disrupted, will generate autism. Project Status
ONGOING

2009

Funder Autism Speaks
Fiscal Year Funding $30,000.00
Project Number 2200
Principal Investigator Colman, Roberta
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 Delaware
State/Country Delaware
Web Link 1 Molecular basis of autism associated with human adenylosuccinate lyase gene defects (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Molecular basis of autism associated with human adenylosuccinate lyase gene defects | $0.00 | 2010 | 2200
Molecular basis of autism associated with human adenylosuccinate lyase gene defects | $30,000.00 | 2008 | 2200