| Neurobiology of Rett syndrome: a genetic disorder of synapse development. | |
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MedLine Citation:
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PMID: 11738874 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rett syndrome is a developmental disorder that restricts brain growth beginning in the first year of life and evidence from neuropathology and neuroimaging indicates that axonodendritic connections are especially vulnerable. In a study of amino acid neurotransmitter receptors using receptor autoradiography in tissue slices of frontal cortex and the basal ganglia, we found a biphasic age-related pattern with relatively high receptor densities in young RS girls and lower densities at later time. Using microarray analysis of gene expression in frontal cortex, we found that some of the most prominent alterations occurred in gene products related to synapses, including the NMDA receptor NR1 subunit, the cytoskeletal protein MAP-2 and synaptic vesicle proteins. Using a new antibody that recognizes MeCP2, the transcription factor mutated in RS, we established that most neurons in the rodent brain express this transcription factor. We hypothesize that a major effect of mutations in the MeCP2 protein is to cause age-related disruption of synaptic proliferation and pruning in the first decade of life. |
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Authors:
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M V Johnston; O H Jeon; J Pevsner; M E Blue; S Naidu |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Brain & development Volume: 23 Suppl 1 ISSN: 0387-7604 ISO Abbreviation: Brain Dev. Publication Date: 2001 Dec |
Date Detail:
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Created Date: 2001-12-18 Completed Date: 2002-03-13 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: Netherlands |
Other Details:
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Languages: eng Pagination: S206-13 Citation Subset: IM |
Affiliation:
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Kennedy Krieger Institute and Johns Hopkins University, Baltimore, MD 21205, USA. johnston@kennedykrieger.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Animals Brain / growth & development*, metabolism*, pathology Cell Differentiation / genetics Child Child, Preschool Chromosomal Proteins, Non-Histone* DNA-Binding Proteins / genetics Female Gene Expression Regulation, Developmental / genetics* Humans Infant Infant, Newborn Methyl-CpG-Binding Protein 2 Neuronal Plasticity / genetics Rats Repressor Proteins* Rett Syndrome / genetics*, metabolism*, pathology Synapses / metabolism*, pathology Synaptic Transmission / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Chromosomal Proteins, Non-Histone; 0/DNA-Binding Proteins; 0/MECP2 protein, human; 0/Mecp2 protein, rat; 0/Methyl-CpG-Binding Protein 2; 0/Repressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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