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Erschienen in: NeuroMolecular Medicine 2/2014

01.06.2014 | Review Paper

Rett Syndrome and MeCP2

verfasst von: Vichithra R. B. Liyanage, Mojgan Rastegar

Erschienen in: NeuroMolecular Medicine | Ausgabe 2/2014

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Abstract

Rett syndrome (RTT) is a severe and progressive neurological disorder, which mainly affects young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most prevalent cause of classical RTT cases. MECP2 mutations or altered expression are also associated with a spectrum of neurodevelopmental disorders such as autism spectrum disorders with recent links to fetal alcohol spectrum disorders. Collectively, MeCP2 relation to these neurodevelopmental disorders highlights the importance of understanding the molecular mechanisms by which MeCP2 impacts brain development, mental conditions, and compromised brain function. Since MECP2 mutations were discovered to be the primary cause of RTT, a significant progress has been made in the MeCP2 research, with respect to the expression, function and regulation of MeCP2 in the brain and its contribution in RTT pathogenesis. To date, there have been intensive efforts in designing effective therapeutic strategies for RTT benefiting from mouse models and cells collected from RTT patients. Despite significant progress in MeCP2 research over the last few decades, there is still a knowledge gap between the in vitro and in vivo research findings and translating these findings into effective therapeutic interventions in human RTT patients. In this review, we will provide a synopsis of Rett syndrome as a severe neurological disorder and will discuss the role of MeCP2 in RTT pathophysiology.
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Zurück zum Zitat Wang, Y., Liu, C., Guo, Q. L., Yan, J. Q., Zhu, X. Y., Huang, C. S., et al. (2011). Intrathecal 5-azacytidine inhibits global DNA methylation and methyl-CpG-binding protein 2 expression and alleviates neuropathic pain in rats following chronic constriction injury. Brain Research, 1418, 64–69. doi:10.1016/j.brainres.2011.08.040.PubMed Wang, Y., Liu, C., Guo, Q. L., Yan, J. Q., Zhu, X. Y., Huang, C. S., et al. (2011). Intrathecal 5-azacytidine inhibits global DNA methylation and methyl-CpG-binding protein 2 expression and alleviates neuropathic pain in rats following chronic constriction injury. Brain Research, 1418, 64–69. doi:10.​1016/​j.​brainres.​2011.​08.​040.PubMed
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Metadaten
Titel
Rett Syndrome and MeCP2
verfasst von
Vichithra R. B. Liyanage
Mojgan Rastegar
Publikationsdatum
01.06.2014
Verlag
Springer US
Erschienen in
NeuroMolecular Medicine / Ausgabe 2/2014
Print ISSN: 1535-1084
Elektronische ISSN: 1559-1174
DOI
https://doi.org/10.1007/s12017-014-8295-9

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