期刊
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
卷 46, 期 -, 页码 187-201出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.neubiorev.2014.01.011
关键词
Rett syndrome; MeCP2; Structure and function; Molecular genetics; Perturbation in gene expression; Pathway enrichment analysis
资金
- Fondazione Cariplo [2010-0724]
- Jerome Lejeune Foundation
- Fondazione Telethon [GGP10032]
- Ministero della Salute (Ricerca finalizzata-Bando Malattie Rare)
- IRSF
- [FP7-PEOPLE-ITN-2008]
Rett syndrome (RTT) is a devastating genetic disorder that worldwide represents the most common genetic cause of severe intellectual disability in females. Most cases are caused by mutations in the X-linked MECP2 gene. Several recent studies have demonstrated that RTT mimicking animal models do not develop an irreversible condition and phenotypic rescue is possible. However, no cure for RTT has been identified so far, and patients are only given symptomatic and supportive treatments. The development of clinical applications imposes a more comprehensive knowledge of MeCP2 functional role(s) and their relevance for RTT pathobiology. Herein, we thoroughly survey the knowledge about MeCP2 structure and functions, highlighting the necessity of identifying more functional domains and the value of molecular genetics. Given that, in our opinion, RTT ultimately is generated by perturbations in gene transcription and so far no genes/pathways have been consistently linked to a dysfunctional MeCP2, we have used higher-level bioinformatic analyses to identify commonly deregulated mechanisms in MeCP2-defective samples. In this review we present our results and discuss the possible value of the utilized approach. (C) 2014 Elsevier Ltd. All rights reserved.
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