Document Detail

Neurobiology of Rett syndrome: a genetic disorder of synapse development.
MedLine Citation:
PMID:  11738874     Owner:  NLM     Status:  MEDLINE    
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.
M V Johnston; O H Jeon; J Pevsner; M E Blue; S Naidu
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Brain & development     Volume:  23 Suppl 1     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2001 Dec 
Date Detail:
Created Date:  2001-12-18     Completed Date:  2002-03-13     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  S206-13     Citation Subset:  IM    
Kennedy Krieger Institute and Johns Hopkins University, Baltimore, MD 21205, USA.
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MeSH Terms
Brain / growth & development*,  metabolism*,  pathology
Cell Differentiation / genetics
Child, Preschool
Chromosomal Proteins, Non-Histone*
DNA-Binding Proteins / genetics
Gene Expression Regulation, Developmental / genetics*
Infant, Newborn
Methyl-CpG-Binding Protein 2
Neuronal Plasticity / genetics
Repressor Proteins*
Rett Syndrome / genetics*,  metabolism*,  pathology
Synapses / metabolism*,  pathology
Synaptic Transmission / genetics*
Reg. No./Substance:
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

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