The role of RET proto-oncogene methylation in the pathogenesis of Hirschsprung's disease
ZHANG Shujian
ZHANG Hui
ZHAN Jianghua
Abstract：Objective To investigate the relationship between the methylation of RET (proto-oncogene, RET) and Hirschsprung disease (HD), and understand its significance in the development of intestinal wall ganglion cells. Methods Twenty-one surgical removal specimens, which were all dilation segment of HD in Tianjin Children’s Hospital, were used as experimental group, and 5 samples of non-HD normal colon tissues were used as control group. The bisulfite sequencing (BSP)-direct detecting method was used to detect RET CpG island methylation status. The expression of RET protein was detected by immunohistochemistry in experimental group and control group. Results In the experimental group 12 cases (57.14%) were found methylation, but no methylation was found in control group. The average optical density of methylated RET protein was 0.201±0.015 in 12 cases. The average optical density of un-methylated RET protein was 0.364±0.023 in 9 cases (P<0.05). Conclusion RET CpG island methylation reduced protein expression levels of RET. The corollary RET gene methylation may influence the expression levels of RET protein, thereby affecting the ganglion cell development, and thus participating in the occurrence of HD.
Keywords：Hirschsprung diseaseproto-oncogene proteins c-retimmunohistochemistrymethylation
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 756-758 )