Читать книгу Pathology of Genetically Engineered and Other Mutant Mice - Группа авторов - Страница 96

Motile cilia (including flagella) exhibit wave‐like or beating motions that are powered by the molecular motor dynein. Motile cilia are present in the respiratory tract, ependymal cells in the brain, reproductive tract, and embryo. While formation of a single cilium is a complex process depending on hundreds of proteins, multiciliated cells must develop a complex network of properly oriented cilia that beat in coordinated fashion in order to generate continuous fluid flow in the brain ventricles, nasal and pulmonary airways, oviduct/epididymis, and embryonic node. Defective motile cilia cause primary ciliary dyskinesias (PCDs), which are typically characterized by chronic rhinosinusitis, pulmonary infections, otitis media, impaired fertility, and hydrocephalus [18–20]. Interestingly, bronchiectasis and pulmonary infections are typical signs of motile ciliary defects in humans but these lesions are absent in mice, whereas hydrocephalus is rare in affected humans but common in mice [21]. Defective motile cilia in the embryonic node lead to laterality defects such as situs inversus and heterotaxy in both mice and humans [22]. Mutations in genes that encode axonemal dynein subunits and dynein motor assembly proteins account for fewer than two‐thirds of PCD cases, indicating that many motile cilia gene mutations causing these diseases remain to be discovered [23].