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Cilia and disease.

Lorraine Eley1, Laura M Yates, Judith A Goodship

  • 1Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. lorraine.eley@ncl.ac.uk

Current Opinion in Genetics & Development
|May 27, 2005
PubMed
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Cilia, essential cellular structures, are vital for bodily functions. Disruptions in motile (9+2) and primary (9+0) cilia can cause various diseases, highlighting their critical roles in health and development.

Area of Science:

  • Cell Biology
  • Genetics
  • Developmental Biology

Background:

  • Cilia are classified as 9+2 (motile) or 9+0 (primary) based on microtubule structure.
  • Motile cilia (9+2) facilitate mucus clearance in the respiratory tract.
  • Primary cilia (9+0) function as cellular antennae and are crucial in embryonic development.

Purpose of the Study:

  • To review the diverse roles of cilia in human health and disease.
  • To highlight the link between ciliary dysfunction and various pathologies.
  • To emphasize the potential for discovering new cilia-related disorders.

Main Methods:

  • Literature review of ciliary function and associated diseases.
  • Classification of cilia based on microtubule arrangement (9+2 and 9+0).

Related Experiment Videos

  • Analysis of clinical data linking ciliary defects to specific conditions.

    • Main Results:

    • Disruption of 9+2 cilia causes respiratory diseases like rhinitis and bronchiectasis.
    • Primary ciliary dyskinesia (PCD) is associated with situs inversus, indicating a role in left-right asymmetry.
    • Defects in 9+0 cilia are linked to kidney cystic diseases and retinitis pigmentosa.

    Conclusions:

    • Cilia play critical roles in diverse physiological processes, including motility, sensory perception, and embryonic development.
    • Ciliary dysfunction underlies a range of human diseases affecting multiple organ systems.
    • Further research into primary cilia function may reveal novel disease mechanisms and therapeutic targets.