Cilia‐related diseases

Abstract

More and more attention is paid to diseases such as internal transfer and brain malformation which are caused by the abnormal morphogenesis of cilia. These cilia‐related diseases are divided into two categories: ciliopathy resulting from defects of primary cilia and primary ciliary dyskinesia (PCD) caused by functional dysregulation of motile cilia. Cilia are widely distributed, and their related diseases can cover many human organs and tissues. Recent studies prove that primary cilia play a key role in maintaining homeostasis in the cardiovascular system. However, molecular mechanisms of cilia‐related diseases remain elusive. Here, we reviewed recent research progresses on characteristics, molecular mechanisms and treatment methods of ciliopathy and PCD. Our review is beneficial to the further research on the pathogenesis and treatment strategies of cilia‐related diseases.

Primary Ciliary Dyskinesia: A Clinical Review

“…These structures are key signaling organelles that sense the extracellular environment, serving as chemoreceptors, mechanoreceptors, osmoreceptors, and, in specialized cases, also detect changes in light, temperature, and gravity [ 7 ]. Because they mediate development, growth, and repair functions in different organs throughout the body, a diverse group of syndromes collectively termed ciliopathies can result when primary cilia are defective [ 8 ]. These syndromes include polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Jeune thoracic dystrophy, Joubert’s syndrome, and Meckel’s syndrome, among others [ 8 ].…”

“…Because they mediate development, growth, and repair functions in different organs throughout the body, a diverse group of syndromes collectively termed ciliopathies can result when primary cilia are defective [ 8 ]. These syndromes include polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Jeune thoracic dystrophy, Joubert’s syndrome, and Meckel’s syndrome, among others [ 8 ].…”