Immunolocalization Of SOX10 In The Human Normal And Hirschsprung's Disease Bowel

Objective Hirschsprung's disease(HD) is a common congenital gastrointestinal disease characterized by aganglionic, dysformation of the intestinal nerve system. Numerous abnormalities of innervation of the bowel have been described in HD,but the actual cause of dysmotility of the bowel in HD remains unclear. SOX10 gene is normally required postnatally in the functional maintenance of the entire enteric nervous system. Recently, mutations of SOX10 have been identified in patients with HD but only in those with Waardenburg-Shah syndrome. There is little report for expression and distribution of SOX10 gene in human gut. The aim of this study is to investigate the immunolocalization of SOX10 in the normal and HD bowel to discuss the relationship between HD and SOX10.Method SOX10 was evaluated by immunohistochemical method using anti-SOX10 multi-antibody in 30 HD and 30 controls. The control colon tissues were obtained from 26 cases of surgical resection performed for colonal carcinoma and 4 cases of intussusception. The previous bowel motility of these cases had been proved to be normal. Tissue was defined as normal when the section was not invaded by the tumor.Result Moderate to strong immunostainning was observed at circular muscle,submucosal region in normal bowel and in aganglionic bowel from HD. The immunoreactivity of SOX10 was either absent or weak in tha longitudinal bowel of both normal bowel and HD bowel,and in the aganglionic part of HD bowel.Conclusion We conclude that SOX10 is normally required postnatally in the functional maintenance of the entire enteric nervous system, including neurones and glia. In HD patients,the SOX10 gene expressed abnormally in the sacral region may be involved in the pathogenesis of the abnormal nerve trunks through interaction with other factors.