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MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome

Rett syndrome (RTT) is an X-linked neurodevelopmental disease predominantly caused by mutations of the methyl-CpG-binding protein 2 (MeCP2) gene. Generally, RTT has been attributed to neuron-centric dysfunction. However, increasing evidence has shown that glial abnormalities are also involved in the...

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Autores principales: Jin, Xu-Rui, Chen, Xing-Shu, Xiao, Lan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632713/
https://www.ncbi.nlm.nih.gov/pubmed/29046627
http://dx.doi.org/10.3389/fnmol.2017.00316
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author Jin, Xu-Rui
Chen, Xing-Shu
Xiao, Lan
author_facet Jin, Xu-Rui
Chen, Xing-Shu
Xiao, Lan
author_sort Jin, Xu-Rui
collection PubMed
description Rett syndrome (RTT) is an X-linked neurodevelopmental disease predominantly caused by mutations of the methyl-CpG-binding protein 2 (MeCP2) gene. Generally, RTT has been attributed to neuron-centric dysfunction. However, increasing evidence has shown that glial abnormalities are also involved in the pathogenesis of RTT. Mice that are MeCP2-null specifically in glial cells showed similar behavioral and/or neuronal abnormalities as those found in MeCP2-null mice, a mouse model of RTT. MeCP2 deficiency in astrocytes impacts the expression of glial intermediate filament proteins such as fibrillary acidic protein (GFAP) and S100 and induces neuron toxicity by disturbing glutamate metabolism or enhancing microtubule instability. MeCP2 deficiency in oligodendrocytes (OLs) results in down-regulation of myelin gene expression and impacts myelination. While MeCP2-deficient microglia cells fail in response to environmental stimuli, release excessive glutamate, and aggravate impairment of the neuronal circuit. In this review, we mainly focus on the progress in determining the role of MeCP2 in glial cells involved in RTT, which may provide further insight into a therapeutic intervention for RTT.
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spelling pubmed-56327132017-10-18 MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome Jin, Xu-Rui Chen, Xing-Shu Xiao, Lan Front Mol Neurosci Neuroscience Rett syndrome (RTT) is an X-linked neurodevelopmental disease predominantly caused by mutations of the methyl-CpG-binding protein 2 (MeCP2) gene. Generally, RTT has been attributed to neuron-centric dysfunction. However, increasing evidence has shown that glial abnormalities are also involved in the pathogenesis of RTT. Mice that are MeCP2-null specifically in glial cells showed similar behavioral and/or neuronal abnormalities as those found in MeCP2-null mice, a mouse model of RTT. MeCP2 deficiency in astrocytes impacts the expression of glial intermediate filament proteins such as fibrillary acidic protein (GFAP) and S100 and induces neuron toxicity by disturbing glutamate metabolism or enhancing microtubule instability. MeCP2 deficiency in oligodendrocytes (OLs) results in down-regulation of myelin gene expression and impacts myelination. While MeCP2-deficient microglia cells fail in response to environmental stimuli, release excessive glutamate, and aggravate impairment of the neuronal circuit. In this review, we mainly focus on the progress in determining the role of MeCP2 in glial cells involved in RTT, which may provide further insight into a therapeutic intervention for RTT. Frontiers Media S.A. 2017-10-04 /pmc/articles/PMC5632713/ /pubmed/29046627 http://dx.doi.org/10.3389/fnmol.2017.00316 Text en Copyright © 2017 Jin, Chen and Xiao. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Jin, Xu-Rui
Chen, Xing-Shu
Xiao, Lan
MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
title MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
title_full MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
title_fullStr MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
title_full_unstemmed MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
title_short MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
title_sort mecp2 deficiency in neuroglia: new progress in the pathogenesis of rett syndrome
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632713/
https://www.ncbi.nlm.nih.gov/pubmed/29046627
http://dx.doi.org/10.3389/fnmol.2017.00316
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