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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

Received: 2021-01-06　　Accepted: 2021-05-06

Corresponding author: 汪长东　　E-mail: wangchangdong@cqmu.edu.cn

Citing This Article：

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).