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细胞原纤毛与人类疾病

刘杰, 许洁, 陈茜, 汪长东^*

重庆医科大学生物化学与分子生物学教研室；分子医学与肿瘤研究中心；基础医学院，重庆 400016

摘要

细胞原纤毛定位于绝大多数哺乳动物细胞表面，属于非常保守的细胞器，调节细胞增殖、分化、迁移、极性、信号级联等生命活动来调控细胞生命进程和维持细胞稳态。原纤毛结构蛋白或附属蛋白编码基因突变所导致的疾病统称为“纤毛类疾病”，发生在胚胎期、婴儿期甚至成人期。纤毛类疾病不仅累及单一器官，也涉及多器官多系统，表现出多变表型和重叠表型。本文主要综述原纤毛相关基因突变对骨骼、牙齿、皮肤、肝胆、肾脏、大脑、视网膜、心脏等器官的影响，揭示其致病机制，并对当前一些纤毛类疾病新型治疗方法进行探讨。

关键词： 细胞原纤毛; 纤毛类疾病; 器官; 治疗

分类号：R3;R33;R394

Cellular primary cilia and human diseases

LIU Jie, XU Jie, CHEN Qian, WANG Chang-Dong^*

Department of Biochemistry and Molecular Biology; Molecular Medicine and Cancer Research Center; College of Basic Medicine, Chongqing Medical University, Chongqing 400016, China

Abstract

 Cellular primary cilium, located on the surface of virtually all mammalian cells, is a strictly conserved organelle which regulates cell biological process and maintains cell homeostasis by modulating cell proliferation, differentiation, migration, polarity, signal cascades and other life activities. Some diseases caused by mutations in genes encoding structural proteins or accessory proteins of primary cilia are collectively termed as “ciliopathies”, which can occur in embryo, infancy and even adulthood. Ciliopathies not only involve a single organ, but also involve multiple organs and multiple systems, showing variable symptoms and overlapping symptoms. This review mainly summarizes the effects of ciliopathy-associated gene mutations on bone, tooth, skin, liver and bile duct, kidney, brain, retina, heart and other organs, uncovers their molecular mechanisms and provides some novel insights into therapy of ciliopathies.

Key words: cellular primary cilium; ciliopathy; organ; therapy

收稿日期：2021-01-06　　录用日期：2021-05-06

通讯作者：汪长东　　E-mail: wangchangdong@cqmu.edu.cn

引用本文：

刘杰, 许洁, 陈茜, 汪长东. 细胞原纤毛与人类疾病[J]. 生理学报 2021; 73 (6): 999-1016.

LIU Jie, XU Jie, CHEN Qian, WANG Chang-Dong. Cellular primary cilia and human diseases. Acta Physiol Sin 2021; 73 (6): 999-1016 (in Chinese with English abstract).