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

Richardson, Charles E., Morgan, John M., Jasani, Bharat, Green, John T., Rhodes, John, Williams, Geraint T., Lindstrom, Jon, Wonnacott, Sue, Thomas, Gareth A.O. and Smith, Virpi 2001. Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the α3 nicotinic acetylcholine receptor subunit. Gastroenterology 121 (2) , pp. 350-357. 10.1053/gast.2001.26320

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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 immunocytochemistry (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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Publisher:	Elsevier
ISSN:	0016-5085
Date of Acceptance:	18 April 2001
Last Modified:	11 Aug 2026 13:15
URI:	https://orca.cardiff.ac.uk/id/eprint/188897

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