Division of Pediatric Surgery and The Pediatric Surgery Laboratory, Department of Surgery, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
J Pediatr Surg. 2010 Jan;45(1):206-11; discussion 211-2. doi: 10.1016/j.jpedsurg.2009.10.035.
Hirschsprung disease (HD) results from aganglionosis of the colon, is linked to acute and chronic enterocolitis (known as Hirschsprung-associated enterocolitis) despite successful corrective surgery, and can lead to bacteremia and even death. The genetic and molecular mechanisms underlying these disorders are largely unknown.
We developed a microsurgical corrective pull-through procedure in mice, and applied that to Ednrb(-/-) mice, which manifest aganglionic megacolon that is very similar to HD. Wild-type littermates (Ednrb(+/+)) also underwent identical surgery. At prespecified time points postoperatively, mice were sacrificed, and histopathologic analyses of intestinal inflammation were performed. Mice of both genotypes were sacrificed after the postoperative recovery period to determine if corrective surgery itself caused inflammation. Stooling patterns were assessed as well to determine if intestinal function normalized after surgery.
There was no difference in histopathological enterocolitis scores after recovery from surgery. Stooling patterns in Ednrb(-/-) and Ednrb(+/+) mice were similar postoperatively, suggesting normalization of intestinal function. However, with time, approximately 40% of Ednrb(-/-) mice developed clinical illness consistent with enterocolitis. No control (Ednrb(+/+)) mice developed clinical enterocolitis. Histopathological enterocolitis scores in the 40% of Ednrb(-/-) mice that developed clinical enterocolitis postoperatively were significantly worse than those of healthy postoperative Ednrb(-/-) mice. In contrast, none of the Ednrb(+/+) control mice exhibited postoperative long-term inflammation.
Microsurgical pull-through operation in Ednrb(-/-) mice produces a mouse model that closely resembles key features of Hirschsprung-associated enterocolitis, enabling controlled study of genetic and molecular mechanisms in Ednrb(-/-) mice and other genotypes that produce similar phenotypes.
先天性巨结肠症(HD)是由于结肠无神经节细胞导致的,尽管手术成功纠正了这一问题,但仍与急性和慢性结肠炎(称为先天性巨结肠相关性结肠炎)有关,并可能导致菌血症甚至死亡。这些疾病的遗传和分子机制在很大程度上尚不清楚。
我们在小鼠中开发了一种显微外科矫正拖出手术,并将其应用于 Ednrb(-/-) 小鼠,这些小鼠表现出类似于 HD 的无神经节细胞巨结肠。野生型同窝仔鼠(Ednrb(+/+))也接受了相同的手术。在术后预定时间点,处死小鼠,进行肠道炎症的组织病理学分析。在术后恢复期后,处死两种基因型的小鼠,以确定矫正手术本身是否引起炎症。还评估了排便模式,以确定手术后肠道功能是否正常。
手术后从手术中恢复后,组织病理学结肠炎评分没有差异。Ednrb(-/-)和 Ednrb(+/+) 小鼠的排便模式在手术后相似,提示肠道功能正常化。然而,随着时间的推移,大约 40%的 Ednrb(-/-) 小鼠出现了与结肠炎一致的临床疾病。没有对照(Ednrb(+/+))小鼠出现临床结肠炎。术后出现临床结肠炎的 40%Ednrb(-/-) 小鼠的组织病理学结肠炎评分明显高于健康术后 Ednrb(-/-) 小鼠。相比之下,没有一只 Ednrb(+/+) 对照小鼠表现出术后长期炎症。
Ednrb(-/-) 小鼠的显微外科拖出手术产生了一种非常类似于先天性巨结肠相关性结肠炎的关键特征的小鼠模型,使 Ednrb(-/-) 小鼠和产生类似表型的其他基因型的遗传和分子机制的受控研究成为可能。