Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the α3 nicotinic acetylcholine receptor subunit
| Autor: | Geraint T. Williams, Jon Lindstrom, John Rhodes, Susan Wonnacott, Gareth A.O. Thomas, Virpi V. Smith, J. T. Green, Bharat Jasani, Charles E. Richardson, John M. Morgan |
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| Rok vydání: | 2001 |
| Předmět: |
Male
Pathology medicine.medical_specialty Colon Urinary Bladder Immunocytochemistry Gene Expression In situ hybridization Receptors Nicotinic Biology medicine Humans Abnormalities Multiple RNA Messenger In Situ Hybridization Acetylcholine receptor Hepatology Gastroenterology Infant Megacystis Microcolon medicine.disease Immunohistochemistry Nicotinic acetylcholine receptor Phenotype Nicotinic agonist Female Peristalsis Hypoperistalsis |
| Zdroj: | Gastroenterology. 121:350-357 |
| ISSN: | 0016-5085 |
| Popis: | 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 a3 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 a3 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 a3 nAChRs contributing to the pathogenesis of MMIHS. |
| Databáze: | OpenAIRE |
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