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Related Experiment Video

Updated: Feb 5, 2026

Simple Detection of Primary Cilia by Immunofluorescence
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Pericentrin Knocks Down Cilia in Trisomy 21.

David K Breslow1

  • 1Department of Molecular, Cellular, and Developmental Biology, Yale University, 219 Prospect Street, New Haven, CT 06511, USA.

Developmental Cell
|September 12, 2018
PubMed
Summary

Down syndrome, a genetic disorder from chromosome 21 trisomy, impairs primary cilia function. Researchers found increased Pericentrin expression in Down syndrome compromises cilium function, linking it to ciliopathies.

Area of Science:

  • Genetics
  • Cell Biology
  • Developmental Biology

Background:

  • Down syndrome is a genetic disorder caused by trisomy of chromosome 21.
  • Ciliopathies are a group of genetic disorders resulting from defects in primary cilia.
  • The relationship between Down syndrome and ciliopathies is not well understood.

Purpose of the Study:

  • To investigate the potential link between Down syndrome and ciliopathies.
  • To determine the effect of Down syndrome on primary cilia function.
  • To identify molecular mechanisms underlying this potential link.

Main Methods:

  • Analysis of primary cilia structure and function in cellular and animal models of Down syndrome.
  • Assessment of Pericentrin expression levels in Down syndrome models.

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  • Investigating the impact of Pericentrin on cilium assembly and function.

    • Main Results:

    • Primary cilia function is compromised in Down syndrome models.
    • Pericentrin expression is significantly increased in Down syndrome.
    • Elevated Pericentrin levels disrupt cilium assembly and function.

    Conclusions:

    • Increased Pericentrin expression is a key factor in the compromised cilium function observed in Down syndrome.
    • This finding establishes a molecular link between Down syndrome and ciliopathies.
    • Targeting Pericentrin may offer therapeutic potential for both conditions.