Cilia structure and function in human disease

Abstract

Ciliary dysfunction causes a large group of developmental and degenerative human diseases known as ciliopathies. These diseases reflect the critical roles that cilia play in sensing the environment and in force generation for motility. Sensory functions include our senses of vision and olfaction. In addition, primary and motile cilia throughout our body monitor the environment allowing cells to coordinate their biology with the cells around them. This coordination is critical to organ development and maintenance, and ciliary dysfunction causes diverse structural birth defects and degenerative diseases. Deficiencies in motility lead to various health issues: lung diseases arise from impaired mucociliary clearance; male infertility results from compromised sperm motility and their inability to traverse the efferent ducts effectively; and disruptions in the left-right axis stem from nodal cilia's failure to establish accurate left-right cues.