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

Rachael M Hyland1, Steven L Brody2

  • 1Department of Pediatrics, Division of Newborn Medicine, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110,USA.

Cells
|January 11, 2022
PubMed

Insights

Motile cilia are crucial for human development, guiding embryonic left-right axis determination and neonatal functions like airway clearance. Understanding primary ciliary dyskinesia (PCD) is vital for diagnosing neonatal respiratory distress and other ciliopathies.

Area of Science:

  • Developmental Biology
  • Cell Biology
  • Genetics

Background:

  • Motile cilia are essential organelles directing fluid flow in human development and neonatal physiology.
  • Primary ciliary dyskinesia (PCD) is a genetic disorder caused by over 60 mutations, impacting motile cilia function.
  • PCD has a distinct neonatal presentation, often including respiratory distress, laterality defects, and rarely, brain ventricle enlargement.

Purpose of the Study:

  • To review the current understanding of motile cilia's role in human development.
  • To discuss the clinical considerations for assessing newborns with suspected motile ciliopathies.
  • To highlight the pathophysiology and developmental impact of motile cilia dysregulation.

Main Methods:

  • Literature review of studies on motile cilia and primary ciliary dyskinesia.
  • Analysis of the developmental functions of motile cilia.
  • Examination of clinical presentations and diagnostic considerations for neonatal ciliopathies.

Main Results:

  • Motile cilia are critical for establishing the embryonic left-right axis.
  • In neonates, motile cilia are vital for airway clearance and cerebrospinal fluid regulation.
  • The majority of PCD patients exhibit neonatal respiratory distress, with laterality defects also common.

Conclusions:

  • Motile cilia play indispensable roles throughout human development and neonatal life.
  • Primary ciliary dyskinesia presents unique neonatal challenges requiring early recognition and assessment.
  • Further research is needed to fully elucidate the developmental functions and pathophysiology of motile cilia and their disorders.

Keywords:
human developmentmotile cilianeonateprimary ciliary dyskinesia

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