The story of Rett syndrome: from clinic to neurobiology - PubMed (original) (raw)
Review
. 2007 Nov 8;56(3):422-37.
doi: 10.1016/j.neuron.2007.10.001.
Affiliations
- PMID: 17988628
- DOI: 10.1016/j.neuron.2007.10.001
Free article
Review
The story of Rett syndrome: from clinic to neurobiology
Maria Chahrour et al. Neuron. 2007.
Free article
Abstract
The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor involved in chromatin remodeling and the modulation of RNA splicing. MECP2 aberrations result in a constellation of neuropsychiatric abnormalities, whereby both loss of function and gain in MECP2 dosage lead to similar neurological phenotypes. Recent studies demonstrate disease reversibility in RTT mouse models, suggesting that the neurological defects in MECP2 disorders are not permanent. To investigate the potential for restoring neuronal function in RTT patients, it is essential to identify MeCP2 targets or modifiers of the phenotype that can be therapeutically modulated. Moreover, deciphering the molecular underpinnings of RTT is likely to contribute to the understanding of the pathogenesis of a broader class of neuropsychiatric disorders.
Similar articles
- X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR. Xinhua Bao, et al. J Child Neurol. 2008 Jan;23(1):22-5. doi: 10.1177/0883073807307077. J Child Neurol. 2008. PMID: 18184939 - MeCP2 dysfunction in Rett syndrome and related disorders.
Moretti P, Zoghbi HY. Moretti P, et al. Curr Opin Genet Dev. 2006 Jun;16(3):276-81. doi: 10.1016/j.gde.2006.04.009. Epub 2006 May 2. Curr Opin Genet Dev. 2006. PMID: 16647848 Review. - A methyl-CpG-binding protein 2-enhanced green fluorescent protein reporter mouse model provides a new tool for studying the neuronal basis of Rett syndrome.
Schmid RS, Tsujimoto N, Qu Q, Lei H, Li E, Chen T, Blaustein CS. Schmid RS, et al. Neuroreport. 2008 Mar 5;19(4):393-8. doi: 10.1097/WNR.0b013e3282f5661c. Neuroreport. 2008. PMID: 18287934 - Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.
Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M, Kubota T, Mori H, Tanaka S, Horie H, Tanabe Y, Goto Y. Itoh M, et al. J Neuropathol Exp Neurol. 2007 Feb;66(2):117-23. doi: 10.1097/nen.0b013e3180302078. J Neuropathol Exp Neurol. 2007. PMID: 17278996 - MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution.
Kaufmann WE, Johnston MV, Blue ME. Kaufmann WE, et al. Brain Dev. 2005 Nov;27 Suppl 1:S77-S87. doi: 10.1016/j.braindev.2004.10.008. Epub 2005 Sep 22. Brain Dev. 2005. PMID: 16182491 Review.
Cited by
- A Role for Vasoactive Intestinal Peptide Interneurons in Neurodevelopmental Disorders.
Goff KM, Goldberg EM. Goff KM, et al. Dev Neurosci. 2021;43(3-4):168-180. doi: 10.1159/000515264. Epub 2021 Apr 1. Dev Neurosci. 2021. PMID: 33794534 Free PMC article. Review. - Reciprocal control of translation and transcription in autism spectrum disorder.
Longo F, Klann E. Longo F, et al. EMBO Rep. 2021 Jun 4;22(6):e52110. doi: 10.15252/embr.202052110. Epub 2021 May 11. EMBO Rep. 2021. PMID: 33977633 Free PMC article. Review. - Microglial control of neuronal activity.
Béchade C, Cantaut-Belarif Y, Bessis A. Béchade C, et al. Front Cell Neurosci. 2013 Mar 28;7:32. doi: 10.3389/fncel.2013.00032. eCollection 2013. Front Cell Neurosci. 2013. PMID: 23543873 Free PMC article. - An epigenetic view of developmental diseases: new targets, new therapies.
Xie P, Zang LQ, Li XK, Shu Q. Xie P, et al. World J Pediatr. 2016 Aug;12(3):291-297. doi: 10.1007/s12519-016-0020-3. Epub 2016 Jun 29. World J Pediatr. 2016. PMID: 27351564 Review. - Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.
Zoghbi HY, Bear MF. Zoghbi HY, et al. Cold Spring Harb Perspect Biol. 2012 Mar 1;4(3):a009886. doi: 10.1101/cshperspect.a009886. Cold Spring Harb Perspect Biol. 2012. PMID: 22258914 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical