Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit

Gastroenterology. 2001 Aug;121(2):350-7. doi: 10.1053/gast.2001.26320.

Abstract

Background & aims: The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disease of childhood that presents early with intestinal hypoperistalsis, hydronephrosis, and hydroureters. Transgenic mice that lack the alpha3 subunit containing nicotinic acetylcholine (nAChR) have a phenotype similar to that of MMIHS.

Methods: We examined the expression of this subunit in control and MMIHS tissue derived from patients using in situ hybridization (ISH) and immunocytochemistry (ICC).

Results: In controls, both techniques showed a wide distribution of alpha3 nAChRs present in ganglion cells, muscle, and epithelium. By contrast, most MMIHS tissue gave negative staining with ISH and variable results with ICC.

Conclusions: These observations are consistent with a lack of alpha3 nAChRs contributing to the pathogenesis of MMIHS.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Abnormalities, Multiple / physiopathology
  • Colon / abnormalities*
  • Female
  • Gene Expression
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Infant
  • Male
  • Peristalsis
  • Phenotype
  • RNA, Messenger / analysis
  • Receptors, Nicotinic / analysis
  • Receptors, Nicotinic / genetics*
  • Urinary Bladder / abnormalities*

Substances

  • RNA, Messenger
  • Receptors, Nicotinic
  • nicotinic receptor subunit alpha3