Abstract
Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells to direct fluid flow. During human development motile cilia guide determination of the left-right axis in the embryo, and in the fetal and neonatal periods they have essential roles in airway clearance in the respiratory tract and regulating cerebral spinal fluid flow in the brain. Dysregulation of motile cilia is best understood through the lens of the genetic disorder primary ciliary dyskinesia (PCD). PCD encompasses all genetic motile ciliopathies resulting from over 60 known genetic mutations and has a unique but often underrecognized neonatal presentation. Neonatal respiratory distress is now known to occur in the majority of patients with PCD, laterality defects are common, and very rarely brain ventricle enlargement occurs. The developmental function of motile cilia and the effect and pathophysiology of motile ciliopathies are incompletely understood in humans. In this review, we will examine the current understanding of the role of motile cilia in human development and clinical considerations when assessing the newborn for suspected motile ciliopathies.
Highlights
primary ciliary dyskinesia (PCD) diagnostic guidelines by the European Respiratory Society (ERS) and the American Thoracic Society (ATS) are both derived from data in children with the mean ages of 7–9 years and predicated on historical features [110,155]
The ATS diagnostic algorithm for PCD requires two of four key clinical features: unexplained neonatal respiratory distress in a term infant, year-round daily cough beginning before 6 months of age, year-round daily nasal congestion beginning before 6 months of age, and organ laterality defect
Motile ciliopathies have significant impact on the newborn, which are understood through the biology of human development
Summary
Human genetics has revealed cilia as essential directors of human development [1,2]. Cilia, the complex hair-like organelles that extend from the surface of cells, are found throughout the body. They contain specialized motor protein complexes that include members of the dynein family to facilitate bending motions that move fluids. Motile cilia on additional single microtubules for [11] Their relative location the have scaffoldtwo as inner or outer dynein arms (IDA, ODA) [10].in. Motile cilia have two additional single microtubules in the middle of the ring of nine, to the outer nine microtubule doublets (Figure 1) This classic “9 + 2” arrangement found called the central pair or central apparatus, which is linked to the outer nine microtubule in cilia of the airways,doublets brain ventricles, fallopian and sperm the wave-like (Figure 1).
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
