Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha 3 nicotinic acetylcholine receptor subunit

Background & Aims: The megacystis-microcolon-intestinal hypoperistalsis syn drome (MMIHS) is a rare disease of childhood that presents early with intes tinal hypoperistalsis, hydronephrosis, and hydroureters. Transgenic mice th at lack the alpha3 subunit containing nicotinic acetylcholine (nAChR) have a phenotype similar to that of MMIHS. Methods: We examined the expression o f this subunit in control and MMIHS tissue derived from patients using in s itu hybridization (ISH) and immunocytochemistry (ICC). Results: In controls , both techniques showed a wide distribution of alpha3 nAChRs present in ga nglion cells, muscle, and epithelium. By contrast, most MMIHS tissue gave n egative staining with ISH and variable results with ICC. Conclusions: These observations are consistent with a lack of alpha3 nAChRs contributing to t he pathogenesis of MMIHS.