title: Semaphorin 3A expression in the colon of Hirschsprung disease.
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang.
authors.forename: Li-Li
authors.initials: LL
authors.lastname: Wang
authors.forename: Yang
authors.initials: Y
authors.lastname: Fan
authors.forename: Feng-Hua
authors.initials: FH
authors.lastname: Zhou
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jia-Ning
authors.initials: JN
authors.lastname: Miao
authors.forename: Hui
authors.initials: H
authors.lastname: Gu
authors.forename: Tian-Chu
authors.initials: TC
authors.lastname: Huang
authors.forename: Zheng-Wei
authors.initials: ZW
authors.lastname: Yuan
mesh_terms: D002648:Child; D002675:Child, Preschool; D003106:Colon / Q000378:metabolism / Q000473:pathology; D005260:Female; D006627:Hirschsprung Disease / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009124:Muscle Proteins / Q000096:biosynthesis*; D009130:Muscle, Smooth / Q000378:metabolism / Q000473:pathology; D040121:Semaphorin-3A / Q000096:biosynthesis*; D015854:Up-Regulation
chemical_list: D009124:Muscle Proteins; C108639:SEMA3A protein, human; D040121:Semaphorin-3A