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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
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Bardet Biedl syndrome: motile ciliary phenotype
Amelia Shoemark1, Mellisa Dixon2, Philip L Beales3
1PCD Diagnostic Team, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, Imperial College.
Chest
|October 16, 2014
Summary
Patients with Bardet-Biedl Syndrome (BBS) exhibit respiratory symptoms, but their motile cilia structure and function appear normal. This suggests BBS respiratory issues stem from factors other than primary ciliary defects.
Area of Science:
- Respiratory medicine
- Genetics
- Cell biology
Background:
- Cilia are crucial for respiratory tract defense.
- Bardet-Biedl Syndrome (BBS) is linked to cilia dysfunction.
- Murine BBS models show respiratory issues, but human studies are lacking.
Purpose of the Study:
- To investigate respiratory symptoms and ciliary epithelium in BBS patients.
- To compare BBS findings with primary ciliary dyskinesia and asthma.
Main Methods:
- Clinical assessment of motile cilia dysfunction symptoms.
- Histological examination of respiratory ciliated epithelium in BBS patients.
Main Results:
- BBS patients show increased prevalence of neonatal respiratory distress, asthma, otitis media, and rhinitis.
- These symptoms are less common than in primary ciliary dyskinesia.
- Respiratory epithelium shows damage, ciliary depletion (60%), and goblet cell hyperplasia (50%), similar to asthma.
- Motile cilia structure and function are largely normal, with minor inclusions.
Conclusions:
- Motile ciliary structure and function are essentially normal in BBS patients.
- Respiratory symptoms in BBS may not be due to primary ciliary defects.
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