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

Insight into MeCP2 function raises therapeutic possibilities for Rett syndrome  

Rett syndrome is a devastating form of autism spectrum disorders, and it is one of the few in which the underlying genetic cause, mutations on the MeCP2 gene (methyl CpG binding protein 2), has been identified. MECP2 is a methyl-DNA binding protein that is thought to function as a transcriptional repressor and has recently been reported to regulate olfactory receptor expression in an unusual way. In MeCP2 knockout mice olfactory receptor neurons express multiple olfactory receptors, in contrast to the wild type mice where only one olfactory receptor allele is expressed in each neuron. Interestingly, the olfactory receptor alleles that appear coexpressed in the MeCP2 knockout neurons are always members of the same chromosomal cluster. The violation of the "one receptor per neuron" rule provides a robust molecular assay for MeCP2 activity. This assay will be used in a high throughput screen of chemicals that can reverse the molecular consequences of MeCP2 deletion in dissociated olfactory neurons. These compounds could eventually be the basis for a pharmacological treatment of Rett syndrome symptoms. Project Status


Funder National Institutes of Health
Fiscal Year Funding $295,298.00
Current Award Period 2010-2014
Project Number 1R01MH091661-01
Principal Investigator Lomvardas, Stavros
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.
Federal or Private? Federal
Institution University of California, San Francisco
State/Country California
Web Link 1 Insight into MeCP2 function raises therapeutic possibilities for Rett syndrome (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A