Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the α3 nicotinic acetylcholine receptor subunit

Charles E. Richardson, John M. Morgan, Bharat Jasani, John T. Green, John Rhodes, Geraint T. Williams, Jon Lindstrom, Sue Wonnacott, Gareth A.O. Thomas, Virpi Smith

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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 α3 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 immunocyto-chemistry (ICC). Results: In controls, both techniques showed a wide distribution of α3 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 α3 nAChRs contributing to the pathogenesis of MMIHS.

Original languageEnglish
Article number21593
Pages (from-to)350-357
Number of pages8
JournalGastroenterology
Volume121
Issue number2
DOIs
Publication statusPublished - Jan 1 2001

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology

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    Richardson, C. E., Morgan, J. M., Jasani, B., Green, J. T., Rhodes, J., Williams, G. T., Lindstrom, J., Wonnacott, S., Thomas, G. A. O., & Smith, V. (2001). Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the α3 nicotinic acetylcholine receptor subunit. Gastroenterology, 121(2), 350-357. [21593]. https://doi.org/10.1053/gast.2001.26320