Anti-MECP2 (aa 469-486) polyclonal antibody

BackgroundVIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have stood the test of time. The Symposium of Rare Diseases has shown that studying Rett syndrome provides clues on molecular and cellular mechanisms for a variety of rare genetic/genomic disorders. Moreover, rare diseases associated with Rett-syndrome-like phenotype or MECP2 mutations/copy number variations have been thoroughly covered by a number of contributors. In this respect, we have found that a review dedicated to the scientific program of the VIII World Rett Syndrome Congress & Symposium of Rare Diseases could be an important addition to current literature.ConclusionTaking the opportunity to review the World Rett Syndrome Congress & Symposium of Rare Diseases at Kazan, we have made an attempt to describe a number of achievements and developments in the field of studying Rett syndrome and rare diseases in Russia. Furthermore, chromosomal abnormalities/disorders have been considered in the rare disease context. Such approach to chromosomal abnormalities/disorders has been found to be rather new for an appreciable part of international researchers and health care providers. We do hope that this congress review may be helpful not only for those who are interested in local development of research and management of rare genetic disorders, but also for international researchers and clinical community of rare disease specialists.

MECP2 (Methyl-CpG-binding protein 2) has been shown to have a critical role in regulating DNA methylation against smoke exposed lung injury. However, the biological function of MECP2 and the underlying molecular mechanism remains elusive. Human bronchial epithelial (16HBE) and alveolar type II epithelial cells (AECII) were exposed to increasing concentrations of cigarette smoke extracts (CSE) solution to establish CSE-induced lung epithelial cell injury models. Our findings revealed that MECP2 was down-regulated, while CYP1B1 was up-regulated in CSE-induced lung epithelial cell injury models by quantitative real time PCR, western blotting and immunofluorescence staining. Down-regulated CYP1B1 was ascribed to the demethylation of its promoter by methylation-specific PCR (MSP). The in vitro experiments further showed that MECP2 overexpression significantly attenuated CSE-triggered cell growth attenuation, cell cycle arrest, apoptosis and ROS generation in lung epithelial cells by CCK-8 and flow cytometry assays. In molecular level, we further demonstrated that MECP2 overexpression obviously suppressed the expression of CYP1B1 through enhancing DNA methylation. Therefore, our data suggest that MECP2 protects against CSE-induced lung epithelial cell injury possibly through down-regulating CYP1B1 expression via elevating its methylation status.