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Related Concept Videos

Mechanism of Ciliary Motion01:05

Mechanism of Ciliary Motion

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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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Chronic Obstructive Pulmonary Disease (COPD) is a long-lasting respiratory condition requiring continuous attention and care. It is a progressive lung disease that leads to breathing challenges due to airflow obstruction. It manifests as persistent respiratory symptoms and restricted airflow resulting from abnormalities in the airways and alveoli, usually due to long-term exposure to harmful particles or gases. COPD mainly consists of two primary conditions: emphysema and chronic bronchitis.
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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Related Experiment Video

Updated: Jun 9, 2025

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Understanding primary ciliary dyskinesia.

Thomas Ferkol1

  • 1Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.

Pediatric Pulmonology
|October 28, 2024
PubMed
Summary

Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia, leading to chronic respiratory issues. Advances in genetic testing are improving diagnosis, though effective treatments for PCD remain a challenge.

Keywords:
airwaybronchiectasisciliaciliopathiesheterotaxyinfectioninflammationsitus inversus totalis

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Area of Science:

  • Genetics and Molecular Biology
  • Pulmonology
  • Rare Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is an inherited condition impairing motile cilia.
  • It causes chronic sinopulmonary disease, middle ear effusions, laterality defects, and subfertility.
  • Over 50 PCD-associated genes are identified, offering insights into ciliary function.

Purpose of the Study:

  • To review the diagnostic evolution and current landscape of Primary Ciliary Dyskinesia.
  • To highlight the shift from ultrastructural analysis to genetic testing as a primary diagnostic tool.
  • To discuss the current limitations in therapeutic strategies for PCD.

Main Methods:

  • Review of historical and current diagnostic approaches for PCD.
  • Analysis of the impact of genetic discoveries on PCD diagnosis.
  • Assessment of the current state of PCD treatment strategies.

Main Results:

  • Genetic testing is now a first-line diagnostic tool for PCD, surpassing traditional ultrastructural analysis.
  • Numerous PCD-associated genes have been identified, enhancing understanding of ciliary mechanisms.
  • Diagnostic capabilities for PCD have significantly improved with evolving methodologies.

Conclusions:

  • The identification of PCD-associated genes has revolutionized diagnosis, making genetic testing paramount.
  • While diagnostic tools have advanced, effective treatments for Primary Ciliary Dyskinesia are still lagging.
  • Further understanding of PCD's genetic and pathophysiological basis is crucial for developing better therapies.