title: MUC-2 mucin production in Hirschsprung's disease: possible association with enterocolitis development.
abstract: OBJECTIVE
  The etiology of Hirschsprung's-associated enterocolitis (HAEC) is unknown. Previous investigations have suggested that abnormal production of mucins may have an etiologic role. Recently, a series of mucin genes have been identified. MUC-2 is the predominant mucin expressed in humans. The authors have shown previously in vitro that use of MUC-2 can prevent bacterial translocation. Based on this, it was hypothesized that those patients with Hirschsprung's disease (HD) would have an abnormal production of MUC-2 compared with normal patients.
  
  
  METHODS
  Fresh stool specimens were collected from children with a diagnosis of HD (with or without HAEC) and from age-matched control patients. Protein was extracted, and MUC-2 was detected with Western blot analysis. MUC-2 protein expression was quantified by densitometry measurements. Results are expressed as mean density +/- SD. Statistical comparison was done with unpaired t tests, with P less than.05 being considered significant.
  
  
  RESULTS
  MUC-2 expression was detected in all control patients (mean density, 121 +/- 47). MUC-2 level was lowest in one child with a viral-induced diarrhea (density = 71). In those patients with HD, levels of MUC-2 protein expression were significantly lower (P <.05) than controls (12 +/- 15 for all HD patients). Levels of MUC-2 were lowest (nondetectable) in 2 HD patients who had clinical evidence of HAEC.
  
  
  CONCLUSIONS
  MUC-2 production is markedly depressed in patients with Hirschsprung's disease and is absent with enterocolitis. This decline in protein expression may result in a decrease in epithelial barrier function and be a predisposing factor in the development of HAEC.
authors.affiliation: Section of Pediatric Surgery, Department of Surgery, The University of Michigan Medical School and C.S. Mott Children's Hospital, Ann Arbor, Michigan 48109, USA.
authors.forename: Aladdein F
authors.initials: AF
authors.lastname: Mattar
authors.forename: Arnold G
authors.initials: AG
authors.lastname: Coran
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Teitelbaum
mesh_terms: D018988:Bacterial Translocation; D016022:Case-Control Studies; D003967:Diarrhea / Q000378:metabolism / Q000821:virology; D004760:Enterocolitis / Q000209:etiology*; D005243:Feces / Q000737:chemistry; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D055262:Mucin-2; D009077:Mucins / Q000032:analysis / Q000172:deficiency* / Q000502:physiology
chemical_list: C524625:MUC2 protein, human; D055262:Mucin-2; D009077:Mucins