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

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.GASTROENTEROLOGY 2001;121:350-357