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Updated: Jan 23, 2026
08:07
Simple Detection of Primary Cilia by Immunofluorescence
Published on: May 15, 2020
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Cilia in hereditary cerebral anomalies
Sophie Thomas1, Lucile Boutaud1, Madeline Louise Reilly2,3
1Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Paris Descartes University, Imagine Institute, 75015, Paris, France.
Biology of the Cell
|June 10, 2019
Summary
Ciliopathies, genetic disorders affecting cilia, often cause brain developmental issues. Primary cilium (PC) dysfunction is linked to cerebral anomalies, including microcephaly, via signaling pathways.
Area of Science:
- Genetics
- Developmental Biology
- Cell Biology
Background:
- Ciliopathies are complex genetic disorders arising from cilia dysfunction.
- Primary cilia (PCs) are crucial sensory organelles found in most human cells.
- PC-associated disorders exhibit significant clinical and genetic heterogeneity.
Purpose of the Study:
- To review cerebral developmental anomalies in PC-associated ciliopathies.
- To explore the link between PC dysfunction and Hedgehog signaling.
- To discuss the role of PC defects in cerebral cortical development malformations.
Main Methods:
- Literature review of PC-associated ciliopathies.
- Analysis of studies linking cilia dysfunction to developmental defects.
- Synthesis of evidence on Hedgehog signaling in ciliopathies.
Main Results:
- Cerebral developmental anomalies are common in PC-associated ciliopathies.
- Hedgehog signaling defects are frequently implicated in these conditions.
- Emerging evidence suggests PC dysfunction contributes to cortical malformations.
Conclusions:
- PC dysfunction is a significant factor in cerebral developmental anomalies.
- Understanding PC roles is critical for diagnosing and treating ciliopathies.
- Further research into PC mechanisms may reveal new therapeutic targets.
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