| Ocular MECP2 protein expression in patients with and without Rett syndrome. | |
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MedLine Citation:
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PMID: 20682201 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl CpG binding protein 2 gene (MECP2). The MECP2 protein is expressed primarily in neurons, and mutations in the gene lead to the clinical features of Rett syndrome in human patients and neurologic deficits in murine models. Visual function is relatively preserved in Rett syndrome patients, but the cause is unknown. The eyes of two Rett syndrome patients who died of the disease were analyzed; no gross or microscopic changes were found. MECP2 expression was examined using immunohistochemistry; nuclear protein expression was largely limited to ganglion cells and the portion of the inner nuclear layer populated by amacrine cells. No significant differences in MECP2 protein level or distribution were identified in the two eyes from the Rett syndrome patients, compared with 11 controls. The findings were compared with MECP2 expression in the brain of these two subjects and in MECP2-deficient mice. The findings suggest that the normally limited expression of MECP2 in visual pathway neurons may underlie the intact vision observed in Rett syndrome. |
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Authors:
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Deepali Jain; Kamaljeet Singh; Sankar Chirumamilla; Genila M Bibat; Mary E Blue; Sakkubai R Naidu; Charles G Eberhart |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural |
Journal Detail:
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Title: Pediatric neurology Volume: 43 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-08-04 Completed Date: 2010-11-12 Revised Date: 2011-08-01 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 35-40 Citation Subset: IM |
Affiliation:
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Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Animals Brain / metabolism Eye / metabolism* Female Humans Immunohistochemistry Infant Infant, Newborn Methyl-CpG-Binding Protein 2 / genetics, metabolism* Mice Mice, Knockout Middle Aged Neurons / metabolism* Rett Syndrome / genetics, metabolism* |
| Grant Support | |
ID/Acronym/Agency:
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HD24448/HD/NICHD NIH HHS; HHSN275200900011C//PHS HHS; P01 HD024448-20/HD/NICHD NIH HHS; UL1RR025005/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2 |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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