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.
Sheng Li Xue Bao. 2021 Dec 25;73(6):999-1016.
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.
细胞初级纤毛位于几乎所有哺乳动物细胞的表面，是一种严格保守的细胞器，它通过调节细胞增殖、分化、迁移、极性、信号级联反应和其他生命活动来调控细胞生物学过程并维持细胞内稳态。一些由编码初级纤毛结构蛋白或辅助蛋白的基因突变引起的疾病统称为“纤毛病”，这些疾病可发生于胚胎期、婴儿期甚至成年期。纤毛病不仅累及单一器官，还累及多个器官和多个系统，表现出症状多样且有重叠。本综述主要总结了纤毛病相关基因突变对骨骼、牙齿、皮肤、肝脏和胆管、肾脏、大脑、视网膜、心脏等器官的影响，揭示了其分子机制，并为纤毛病的治疗提供了一些新的见解。
