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The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
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The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
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Related Experiment Video

Updated: Aug 22, 2025

Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
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Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.

Andrew T Barber1, Adam J Shapiro2, Stephanie D Davis1

  • 1Department of Pediatrics, UNC Children's, and.

Annals of the American Thoracic Society
|November 7, 2022
PubMed
Summary

Organ laterality defects in primary ciliary dyskinesia (PCD) are linked to specific ciliary ultrastructural defects. Outer dynein arm defects increase laterality abnormality risk, while normal cilia reduce it, highlighting distinct pathophysiologies in PCD.

Keywords:
lateralitysitus ambiguoussitus inversus totalis

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Area of Science:

  • Medical Genetics
  • Cell Biology
  • Developmental Biology

Background:

  • Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia function.
  • Organ laterality abnormalities, such as situs inversus and heterotaxy, are observed in some PCD patients.
  • The precise relationship between specific ciliary defects and laterality disorders in PCD remains unclear.

Purpose of the Study:

  • To investigate the association between distinct ciliary ultrastructural defects or genotypes and the presence or type of organ laterality abnormalities in individuals with PCD.
  • To determine if specific ciliary defects predict the likelihood of laterality defects in PCD.

Main Methods:

  • A multicenter, prospective study enrolled participants with PCD.
  • Participants were categorized based on their identified ciliary ultrastructural defect or genetic genotype.
  • Retrospective analysis using logistic regression evaluated the association between ciliary defects and laterality abnormalities, adjusting for variant types.

Main Results:

  • Among 559 participants, situs solitus, situs inversus totalis, and situs ambiguus were observed in 51.2%, 38.5%, and 10.4%, respectively.
  • Laterality defects were significantly more common in patients with outer dynein arm defects (OR, 2.07) compared to those with inner dynein arm defects and microtubular disorganization.
  • Conversely, laterality defects were less likely in individuals with normal/near-normal ciliary ultrastructure (OR, 0.04).
  • Heterotaxy occurred in 4.5% of the outer dynein arm defects group but was absent in the inner dynein arm defects with microtubular disorganization group.

Conclusions:

  • The risk of developing organ laterality abnormalities in primary ciliary dyskinesia varies depending on the specific underlying ciliary ultrastructural defect.
  • Outer dynein arm defects are associated with an increased likelihood of laterality defects, including heterotaxy.
  • Further research is needed to elucidate the pathophysiological mechanisms driving these observed differences in laterality defects within PCD.