Semaphorin 3A expression in the colon of Hirschsprung disease.
Semaphorin 3A expression in the colon of Hirschsprung disease.
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DOI：
10.1002/bdra.20837
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发表时间：
2011-09
期刊：
影响因子：
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通讯作者：
Li-li Wang;Yang Fan;Feng-hua Zhou;Hui Li;Yi Zhang;Jia-ning Miao;Hui Gu;Tiansheng Huang;Zheng-Wei Yuan
中科院分区：
文献类型：
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作者：
Li-li Wang;Yang Fan;Feng-hua Zhou;Hui Li;Yi Zhang;Jia-ning Miao;Hui Gu;Tiansheng Huang;Zheng-Wei Yuan
先天性巨结肠症是一种先天性疾病，其特征是结肠下部神经丛内缺乏内神经节细胞。Semaphorin 3A（SEMA 3A）基因参与肠神经前体（ENPs）的迁移。为了分析SEMA 3A在HSCR中的功能，检测了HSCR中不同结肠段中的SEMA 3A表达。方法采用实时荧光定量RT-PCR、Western-blot和免疫组织化学方法检测32例HSCR患者结肠组织中SEMA 3A的表达水平。结果SEMA 3A在HSCR无神经节结肠和神经节结肠组织中的表达水平比较显示，43.75%（14/32）的无神经节结肠组织中SEMA 3A表达上调。SEMA 3A表达于肌间神经丛、粘膜下层的神经节细胞，以及未受影响的新生儿和HSCR患者的正常结肠的纵向和环形肌肉层。在HSCR患者的无神经节段中，SEMA 3A在环形肌层中高度表达，并且在粘膜下层和纵向肌层中也检测到。SEMA 3A在无神经节段的环形肌层中的荧光强度远高于在神经节段中的荧光强度（p <0.001）。结论SEMA 3A在部分HSCR患者结肠无神经节细胞平滑肌层表达上调，我们的数据表明，SEMA 3A表达增加可能是HSCR病理的一个危险因素。
BACKGROUND Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of intrinsic ganglion cells in the nerve plexuses of the lower colon. The Semaphorin 3A (SEMA3A) gene is involved in the migration of enteric neural precursors (ENPs). To analyze the function of SEMA3A in HSCR, the SEMA3A expression in different colon segments in HSCR was examined. METHODS The expression levels of SEMA3A in both ganglionic and aganglionic colon tissues of 32 patients with HSCR and in colon tissue of 5 newborn unaffected individuals were examined by real-time RT-PCR, Western-blot, and immunohistology. RESULTS Comparison of SEMA3A expression levels between ganglionic and aganglionic tissues in HSCR revealed upregulation of SEMA3A expression in 43.75% (14/32) of the aganglionic colons. SEMA3A was expressed in the ganglion cells of the myenteric plexus, submucosa, as well as in the longitudinal and circular muscle layer of the normal colon of both unaffected newborns and patients with HSCR. In the aganglionic segment of patients with HSCR, SEMA3A was highly expressed in the circular muscle layer and was also detected in the submucosa and in the longitudinal muscles layer. The fluorescence intensity of SEMA3A in the circular muscle layer in the aganglionic segment was much higher than that in ganglionic segment (p < .001). CONCLUSION SEMA3A expression was upregulated in the aganglionic smooth muscle layer of the colon in some patients with HSCR and our data suggest that increased SEMA3A expression may be a risk factor for HSCR pathology in a subset of patients.