FIND ARTICLE

Volume: 
Issue: 
2
Date of issue: 

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting almost exclusively girls. Mutations in the MECP2 gene have been found in a variety of different RTT phenoty- pes. The MECP2 gene encodes a transcriptional repressor (MeCP2, methyl-CpG-binding protein 2) acting by binding to the methylated DNA and producing the compacted chromatin structure. MeCP2 is strongly expressed in brain. Up to now, 370 different MECP2 mutations have been reported. Most mutations occur de novo on the paternal chromosome. In several cases a genotype-phenotype correlation have been found. Skewed XCI patterns may be one of the reasons of the RTT phenotypic heterogeneity. MECP2 mutations have been also revealed in several male cases. Studies performed on RTT mouse models indicate that MECP2 gene is required for the proper development and function of the central nervous system. MeCP2 regulates expression of genes encoding proteins which participate in the formation of new synaptic connections. The significant MeCP2 role in the synaptogenesis process explains the Rett patients specific phenotype.

The Editorial Board
Andrzej Łukaszyk - przewodniczący, Zofia Bielańska-Osuchowska, Szczepan Biliński, Mieczysław Chorąży, Aleksander Koj, Włodzimierz Korochoda, Leszek Kuźnicki, Aleksandra Stojałowska, Lech Wojtczak

Editorial address:
Katedra i Zakład Histologii i Embriologii Uniwersytetu Medycznego w Poznaniu, ul. Święcickiego 6, 60-781 Poznań, tel. +48 61 8546453, fax. +48 61 8546440, email: mnowicki@ump.edu.pl

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