Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the α3 nicotinic acetylcholine receptor subunit
2001; Elsevier BV; Volume: 121; Issue: 2 Linguagem: Inglês
10.1053/gast.2001.26320
ISSN1528-0012
AutoresCharles Richardson, John Morgan, Bharat Jasani, John T. Green, John Rhodes, Geraint T. Williams, Jon Lindstrom, Susan Wonnacott, Gareth Thomas, Virpi V. Smith,
Tópico(s)Ion channel regulation and function
ResumoBackground & 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
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