Warden Scott M, Andreoli Christopher M, Mukai Shizuo
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA.
Semin Ophthalmol. 2007 Oct-Dec;22(4):211-7. doi: 10.1080/08820530701745124.
The Wnt signaling pathway is highly conserved among species and has an important role in many cell biological processes throughout the body. This signaling cascade is involved in regulating ocular growth and development, and recent findings indicate that this is particularly true in the retina. Mutations involving different aspects of the Wnt signaling pathway are being linked to several diseases of retinal development. The aim of this article is to first review the Wnt signaling pathway. We will then describe two conditions, familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND), which have been shown to be caused in part by defects in the Wnt signaling cascade.
Wnt信号通路在物种间高度保守，在全身许多细胞生物学过程中发挥重要作用。该信号级联反应参与调节眼球的生长和发育，最近的研究结果表明，在视网膜中尤其如此。涉及Wnt信号通路不同方面的突变与几种视网膜发育疾病有关。本文的目的首先是综述Wnt信号通路。然后我们将描述两种病症，家族性渗出性玻璃体视网膜病变（FEVR）和诺里病（ND），它们已被证明部分是由Wnt信号级联反应缺陷引起的。
