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Related Concept Videos

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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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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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Related Experiment Video

Updated: Aug 16, 2025

Using Primary Neurosphere Cultures to Study Primary Cilia
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Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.

Vasiliki Karalis1,2, Kathleen E Donovan1,2, Mustafa Sahin1,2

  • 1The Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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Primary cilia, crucial cell signaling structures, are increasingly linked to neurodevelopmental disorders. This review explores how defects in these cilia contribute to brain abnormalities in genetic conditions.

Keywords:
ciliopathiesneurodevelopmental disordersprimary ciliasignaling

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Area of Science:

  • Cell Biology
  • Neuroscience
  • Genetics

Background:

  • Primary cilia are microtubule-based cell surface organelles acting as signaling hubs.
  • Key signaling pathways like Sonic Hedgehog (Shh) and Wnt are regulated by primary cilia.
  • Defects in primary cilia cause ciliopathies, a group of genetic disorders.

Purpose of the Study:

  • To review monogenic neurodevelopmental disorders associated with primary cilia deficits.
  • To summarize research on the role of primary cilia in the brain.
  • To elucidate how cilia defects contribute to neurological abnormalities.

Main Methods:

  • Literature review of studies on primary cilia in neurodevelopmental disorders.
  • Analysis of genetic mutations affecting primary cilia structure and function.
  • Synthesis of findings on the neurological manifestations of ciliopathies and related disorders.

Main Results:

  • Primary cilia defects are observed in neurodevelopmental disorders not traditionally classified as ciliopathies.
  • Genetic mutations impacting cilia function/structure correlate with neurological symptoms.
  • The precise molecular mechanisms linking cilia defects to brain abnormalities are still under investigation.

Conclusions:

  • Primary cilia play a significant role in brain development and function.
  • Understanding cilia deficits is crucial for diagnosing and treating neurodevelopmental disorders.
  • Further research is needed to fully comprehend the link between cilia dysfunction and neurological disease.