Richardson C E, Morgan J M, Jasani B, Green J T, Rhodes J, Williams G T, Lindstrom J, Wonnacott S, Thomas G A, Smith V
Department of Gastroenterology, University Hospital of Wales, Heath Park, Cardiff, Wales CF14 4XW, UK.
Gastroenterology. 2001 Aug;121(2):350-7. doi: 10.1053/gast.2001.26320.
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 alpha3 subunit containing nicotinic acetylcholine (nAChR) have a phenotype similar to that of MMIHS.
We examined the expression of this subunit in control and MMIHS tissue derived from patients using in situ hybridization (ISH) and immunocytochemistry (ICC).
In controls, both techniques showed a wide distribution of alpha3 nAChRs present in ganglion cells, muscle, and epithelium. By contrast, most MMIHS tissue gave negative staining with ISH and variable results with ICC.
These observations are consistent with a lack of alpha3 nAChRs contributing to the pathogenesis of MMIHS.
巨膀胱-小结肠-肠蠕动迟缓综合征（MMIHS）是一种儿童期罕见疾病，早期表现为肠蠕动迟缓、肾积水和输尿管积水。缺乏含烟碱型乙酰胆碱（nAChR）α3亚基的转基因小鼠具有与MMIHS相似的表型。
我们使用原位杂交（ISH）和免疫细胞化学（ICC）检测了该亚基在对照组织和MMIHS患者组织中的表达。
在对照组织中，两种技术均显示α3 nAChRs广泛分布于神经节细胞、肌肉和上皮细胞中。相比之下，大多数MMIHS组织ISH染色呈阴性，ICC结果不一。
这些观察结果与α3 nAChRs缺乏导致MMIHS发病机制一致。
