title: MeCP2 in the enteric nervous system.
abstract: BACKGROUND
  Rett syndrome (RTT) is an intellectual deficit and movement disorder that develops during early childhood in girls. Affected children are normal until 6-18 months of age, after which symptoms begin to appear. Most cases of RTT are due to mutations in the MeCP2 gene leading to disruption of neuronal communication in the central nervous system. In addition, RTT patients show peripheral ailments such as gastrointestinal (GI), respiratory, and cardiac dysfunction. The etiology of intestinal dysfunction in RTT is not well-understood. Reports on the presence of MeCP2 in the peripheral nervous system are scant. As such we examined the levels of MeCP2 in human and murine GI tissue and assessed MeCP2 expression at various developmental stages.
  
  
  METHODS
  Immunohistochemistry for MeCP2, HuC/D, juvenile beta tubulin, and GFAP was performed on human and murine intestine. Western blots of these same tissues were probed with MeCP2, vAChT, nNOS, and beta-actin antibodies.
  
  
  RESULTS
  MeCP2 is expressed throughout the GI tract. MeCP2 is expressed specifically in the enteric nervous system of the GI tract. MeCP2 is expressed in the GI tract throughout development with appearance beginning at or before E11.5 in the murine intestine.
  
  
  CONCLUSIONS
  The proof of MeCP2 expression in enteric neurons suggests that the GI dysmotility in Rett may arise from enteric network dysfunction secondary to MeCP2 mutation.
authors.affiliation: Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada.
authors.forename: G
authors.initials: G
authors.lastname: Wahba
authors.affiliation: Research Institute, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
authors.forename: S C
authors.initials: SC
authors.lastname: Schock
authors.affiliation: Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada.
authors.forename: E
authors.initials: E
authors.lastname: Claridge
authors.affiliation: Departments of Surgery, Pathology and Paediatrics (Neurology), Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Bettolli
authors.affiliation: Departments of Surgery, Pathology and Paediatrics (Neurology), Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Grynspan
authors.affiliation: Departments of Surgery, Pathology and Paediatrics (Neurology), Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Humphreys
authors.affiliation: Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada.
authors.forename: W A
authors.initials: WA
authors.lastname: Staines
mesh_terms: D000293:Adolescent; D000818:Animals; D001065:Appendix / Q000378:metabolism; D003106:Colon / Q000378:metabolism; D017615:Enteric Nervous System / Q000378:metabolism*; D005260:Female; D041981:Gastrointestinal Tract / Q000378:metabolism*; D006801:Humans; D007421:Intestine, Small / Q000378:metabolism; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000378:metabolism*; D051379:Mice; D009474:Neurons / Q000378:metabolism
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2
keywords: MeCP2; Rett syndrome; development; enteric nervous system; gastrointestinal dysmotility; gastrointestinal tract; myenteric plexus