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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Chromatin alterations in Rett syndrome

Principal Investigator

Principal Investigator

Akbarian, Schahram

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

271798

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

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.

Project Link

Project Link

Chromatin alterations in Rett syndrome (External web link)

Institution

Institution

University of Massachusetts Medical School

State/Country

State/Country

Massachusetts

Project Number

Project Number

5R01HD048489-05

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Chromatin alterations in Rett syndrome | 271798 | 2008 | R01HD048489-04

 
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