Cellular primary cilia and human diseases.
- Author:
Jie LIU
1
,
2
,
3
;
Jie XU
1
,
2
,
3
;
Qian CHEN
1
,
2
,
3
;
Chang-Dong WANG
1
,
2
,
4
Author Information
1. Department of Biochemistry and Molecular Biology
2. Molecular Medicine and Cancer Research Center
3. College of Basic Medicine, Chongqing Medical University, Chongqing 400016, China.
4. College of Basic Medicine, Chongqing Medical University, Chongqing 400016, China. wangchangdong@cqmu.edu.cn.
- Publication Type:Review
- MeSH:
Adult;
Animals;
Cilia;
Ciliopathies/genetics*;
Humans;
Proteins;
Retina;
Signal Transduction
- From:
Acta Physiologica Sinica
2021;73(6):999-1016
- CountryChina
- Language:Chinese
-
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.
