初级纤毛与Wnt信号通路相关性研究进展-遗传.PDF

Hereditas (Beijing) 2015 年3 月, 37(3): 233 ―239 综 述 初级纤毛与Wnt 信号通路相关性研究进展 张蔓丽，卢彦平，李亚里 中国人民解放军总医院妇产科，北京 100853 摘要:初级纤毛是一类以微管为基础结构的细胞器，其来源于细胞的母中心粒，锚定在细胞膜并如“天线”般 突出细胞表面。作为细胞感受器，初级纤毛从环境中接受各种信号，传导至细胞内引起细胞反应。近期的研究 表明，初级纤毛对与胚胎发育密切相关的Wnt 信号通路的传导起重要作用。纤毛的损害可造成 Wnt 信号通路 的异常，并引起胚胎中多类脏器一系列的病理改变，导致初级纤毛相关疾病的发生。文章主要阐述了初级纤毛 与Wnt/β-catenin 、Wnt/PCP 通路及初级纤毛相关疾病之间的关系，并对初级纤毛相关疾病的治疗进行了初步探 讨。对初级纤毛与Wnt 信号通路关系的深入研究将有助于人们对该类疾病的进一步诊断和治疗。 关键词:初级纤毛；Wnt 信号通路；初级纤毛相关疾病 Correlation between primary cilium and Wnt signaling pathway Manli Zhang, Yanping Lu, Yali Li Department of Gynaecology and Obstetrics, The PLA General Hospital,Beijing 100853, China Abstract: Primary cilium is a microtubule-based organelle,which develops from the mother centriole of the centrosome. It is an antenna-like structure that anchors at the cell membrance, protruding from the cell surface. Primary cilium acts as a sensory organelle that receives different kinds of signals from the environment and transmits signals to cells to elicit cellular responses. Recent studies have revealed that primary cilium play an important role in transmitting Wnt signaling, which is critical for embryonic development. Dysfunction of primary cilium deregulates Wnt signaling, causing a series of patho- logical changes in different organs of the embryo, resulting in ciliopathies. In this review, we summarize correlation among primary cilium,Wnt/β-catenin signaling,Wnt/PCP signaling and ciliopathies. Current therapies in ciliopathies are also dis- cussed. Highlights on these researches will encourage the development of Wnt-associated diagnostic tools and therapy for ciliopathies. Keywords: primary cilium;Wnt signaling; ciliopathies 100 多年以来，细胞表面微小的纤毛曾被认为 功能的认识，人们发现纤毛借助信号通路在人类的 是无用退化的细胞器。然而随着对纤毛超微结构和 胚胎发育、疾病发生中发挥着举足轻重的作用。Wnt 收稿日期: 2014−07−28; 修回日期: 2014−12−05