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

Chromatin alterations in Rett syndrome  

Rett syndrome is a neurological disease of early childhood. It is associated with deleterious mutations of the gene encoding methyI-CpG-binding protein 2 (MECP2) but it remains unclear how MECP2-deficiency results in neuronal disease. The function of MECP2 may be to regulate modifications to histones, the main protein component of chromatin. This, in turn, affects gene expression. Two such modifications, histone acetylation and methylation, will be investigated in this study using three model systems. First, a mouse model will be used to compare the developing cerebral cortex in wildtype mice and mice with certain histone modifications. Primary cortical cells will also be examined to determine if drug-induced changes in histone acetylation affect neuronal growth and survival. Finally, histone methylation will be studied in human postmortem cerebral cortex tissue of subjects diagnosed with Rett syndrome. It is expected that these approaches will provide a clear and comprehensive picture of the developmental regulation of histone modifications in cortical neurons, including potential changes in the MECP2-deficient brain. Project Status


Funder National Institutes of Health
Fiscal Year Funding $271,798.00
Project Number 5R01HD048489-05
Principal Investigator Akbarian, Schahram
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? Federal
Institution University of Massachusetts Medical School
State/Country Massachusetts
Web Link 1 Chromatin alterations in Rett syndrome (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Chromatin alterations in Rett syndrome | $271,798.00 | 2008 | R01HD048489-04