TY - JOUR
T1 - Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the α3 nicotinic acetylcholine receptor subunit
AU - Richardson, Charles E.
AU - Morgan, John M.
AU - Jasani, Bharat
AU - Green, John T.
AU - Rhodes, John
AU - Williams, Geraint T.
AU - Lindstrom, Jon
AU - Wonnacott, Sue
AU - Thomas, Gareth A.O.
AU - Smith, Virpi
PY - 2001
Y1 - 2001
N2 - 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 immunocyto-chemistry (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.
AB - 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 immunocyto-chemistry (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.
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U2 - 10.1053/gast.2001.26320
DO - 10.1053/gast.2001.26320
M3 - Article
C2 - 11487544
AN - SCOPUS:0034909750
VL - 121
SP - 350
EP - 357
JO - Gastroenterology
JF - Gastroenterology
SN - 0016-5085
IS - 2
M1 - 21593
ER -