Ciliopathies: cellular mechanism and translational application

doi:10.3969/j.issn.2095-4344.2016.24.022

Abstract

Abstract:

BACKGROUND: Cilium is an antenna-like organelle that plays a vital role in all organs generation and maintenance. Ciliopathies refer to multisystem diseases caused by disorders of the cilia structure and function.
OBJECTIVE: To introduce current understanding of the structure and function of the cilium, with a focus on the study progress of ciliopathies.
METHODS: PubMed database was searched by computer using the keywords of “primary cilium, motion cilium, ciliopathy”. Totally 371 relevant articles published from 1959 to 2015 were retrieved. After excluding repetitive and irrelevant articles, we enrolled 32 English literatures regarding cilia structure, function and ciliopathies in accordance with the inclusion criteria.
RESULTS AND CONCLUSION: Ciliopathies almost involve every system of the human body, such as the brain, eyes, liver, kidney, bone and reproductive system. Most ciliopathies are related to human developmental or degenerative diseases, which characterized by wide-ranging clinical and genetic heterogeneity, such as primary ciliary dyskinesia, ploycystic kidney disease, infertility, blindness and tumor. In view of the medical importance of the cilium, scholars have devoted to studying the underlying cellular mechanisms. These in turn have revealed that ciliopathies are not only caused by defective assembly of the cilium, but also by impaired ciliary signaling.

中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

Key words: Cilia, Ciliary Motility Disorders, Tissue Engineering

CLC Number:

R318

Na Yu-yan, Liu Wan-lin. Ciliopathies: cellular mechanism and translational application[J]. Chinese Journal of Tissue Engineering Research, 2016, 20(24): 3642-3648.

Figures/Tables 1

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