Expression and methylation of MeCP2 gene in hirschsprung disease and anorectal malformations

Abstract

Objective To explore the methylation and pathogenetic effect of MeCP2 gene in tissue specimens of hirschsprung disease （HD） and anorectal malformations （ARMs）. Methods The degree of methylation of MeCP2 gene in stegnotic and normal segments of HD, and ARMs （ high, intermediate and low-set） and non-gastrointestinal tract disease （the normal control） tissues was detected by MSP. The mRNA transcription levels of MeCP2 gene in 30 cases were detected by quantitative real-time polymerase chain reaction （qRT-PCR） in HD and ARMs. Results The MSP results demonstrated that 19 from 30 cases of stegnotic segments presented MeCP2 gene hypermethylation, and 4 from 30 cases of normal segments presented MeCP2 gene hypermethylation. The MSP results revealed in high position of ARMs MeCP2 gene hypermethylation was found in 5 from 8 cases, and hypomethylation was seen in 1 from 9 cases of intermediate ARMs and 1 from 13 cases of low ARMs. The mRNA expression levels of MeCP2 gene were significantly lower in stegnotic segments of HD than those in the normal segments （P 〈 0. 05）. The mRNA expression of MeCP＇2 was lower in the high position of ARMs than in the control group （ P 〈 O. 05 ）. There was no significant difference in the mRNA expression level of MeCP2 between low and intermediate in ARMs （ P 〉 0. 05）. Conclusion Hypermethylation and lower mRNA expression of MeCP2 gene existed in stegnotic segments of HD and high ARMs, whicy may play a role in the developmental regulation of the enteric development in congenital malformation of the alimentary tract. Key words: Hirschsprung disease ; MeCP2 gene ; Methyl; Gene expression