Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn

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...

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Bibliographic Details
Published in:Cells (Basel, Switzerland) Switzerland), 2021-12, Vol.11 (1), p.125
Main Authors: Hyland, Rachael M, Brody, Steven L
Format: Article
Language:English
Subjects:
Asymmetry
Cerebrospinal fluid
Cilia
Cilia - pathology
Ciliopathies - diagnosis
Ciliopathies - pathology
Dyskinesia
Embryonic Development
Embryos
Fetuses
Fluid flow
Gene expression
Genetic disorders
human development
Humans
Infant, Newborn
Microscopy
Models, Biological
motile cilia
neonate
Neonates
Organelles
Primary ciliary dyskinesia
Proteins
Respiratory tract
Review
Sperm
Ventricle
Ventricles (cerebral)
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Summary: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.
ISSN:2073-4409
2073-4409
DOI:10.3390/cells11010125