音猬因子信号通路与VACTERL综合征
Sonic Hedgehog Signaling and VACTERL Association.
作者信息
Ngan E S-W, Kim K-H, Hui C-C
机构信息
Department of Surgery, University of Hong Kong, Hong Kong, SAR, China ; Centre for Reproduction, Development and Growth, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, SAR, China.
出版信息
Mol Syndromol. 2013 Feb;4(1-2):32-45. doi: 10.1159/000345725.
Abstract
Hedgehog (Hh) signaling is vital for the patterning and organogenesis of almost every system. The specificity of these developmental processes is achieved through a tight spatio-temporal regulation of Hh signaling. Mice with defective Hh signal exhibit a wide spectrum of anomalies, including Vertebral defects, Anal atresia, Cardiovascular anomalies, Tracheoesophageal fistula, Renal dysplasia, and Limb defects, that resemble strikingly the phenotypes observed in VACTERL association in humans. In this review, we summarize our current understanding of mammalian Hh signaling and highlight the relevance of various mouse models for studying the etiology and pathogenesis of VACTERL association. In addition, recent advances in genetic study for unraveling the complexity of genetic inheritance of VACTERL and the implication of the Sonic hedgehog pathway in disease pathogenesis are also discussed.
摘要
刺猬信号通路（Hh信号通路）对于几乎每个系统的模式形成和器官发生都至关重要。这些发育过程的特异性是通过对Hh信号通路进行严格的时空调节来实现的。Hh信号缺陷的小鼠表现出广泛的异常，包括脊柱缺陷、肛门闭锁、心血管异常、气管食管瘘、肾发育不全和肢体缺陷，这些异常与人类VACTERL综合征中观察到的表型极为相似。在这篇综述中，我们总结了目前对哺乳动物Hh信号通路的理解，并强调了各种小鼠模型对于研究VACTERL综合征病因和发病机制的相关性。此外，还讨论了在揭示VACTERL综合征复杂遗传继承方面的遗传学研究最新进展以及音猬因子信号通路在疾病发病机制中的意义。
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