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• W1970225272 abstract "Background/Purpose Hirschsprung's disease (HSCR) is a congenital disorder characterized by the absence of intramural ganglion cells which are highly associated with impaired proliferation and migration of neural crest cells. Whether methyl CpG binding protein 2 (MeCP2) is related with HSCR still remains unknown. This study investigates the involvement of MeCP2 in HSCR. Methods Quantitative real time PCR and western blot were used to detect the expression level of MeCP2 both in the aganglionic/diseased segment and the ganglionic/normal segment. In vitro assays we used siRNAs to knock-down the expression of MeCP2 in SH-SY5Y cell lines, and furthermore, MTT and transwell assays were used to detect the proliferation and migration ability, respectively. In addition, bisulfite sequencing (BSP) and miRNA analysis were used to examine why MeCP2 is decreased in HSCR samples. Results MeCP2 exhibited a lower expression level in tissues of HSCR patients compared with the controls. The down-regulation may also suppress the proliferative ability of the cells. However, there was no significant difference in the MeCP2 methylation level between cases and controls. Similarly, there was no difference between cases and controls in miRNA-34b (miR-34b) which is predicted to regulate MeCP2 through complementary binding to the 3′-untranslated region of MeCP2. Conclusion Our results indicated that an aberrant decreased level of MeCP2 may play an important role in the pathogenesis of HSCR." @default.
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• W1970225272 date "2013-10-01" @default.
• W1970225272 modified "2023-10-15" @default.
• W1970225272 title "Down-regulation of MeCP2 in Hirschsprung's disease" @default.
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• W1970225272 doi "https://doi.org/10.1016/j.jpedsurg.2013.07.011" @default.
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