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Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography
Thomas Burgoyne1, Amy Lewis, Ann Dewar
1Electron Microscopy Unit, Royal Brompton Hospital, London, United Kingdom; National Heart and Lung Institute, Imperial College, London, United Kingdom.
Cytoskeleton (Hoboken, N.J.)
|March 12, 2014
Summary
Primary ciliary dyskinesia (PCD) involves ciliary defects causing various health issues. This study reveals that mutations in radial spoke head proteins can cause the central pair of cilia to intermittently rotate, explaining observed ultrastructural defects in PCD patients.
Area of Science:
- Cell Biology
- Genetics
- Biophysics
Background:
- Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired ciliary motility.
- Defects in cilia lead to significant clinical manifestations, including respiratory and reproductive issues.
- Mutations in radial spoke head (RSPH) proteins are a known genetic cause of PCD.
Observation:
- Patients with RSPH mutations exhibit ciliary defects, including absent central pairs and transposed outer microtubular doublets.
- An intermittent loss of the central pair has been consistently observed in these patients.
- Electron tomography was used to investigate the 3D ultrastructure of cilia in RSPH4A gene mutation patients.
Findings:
- The central pair of cilia can be present even when defects are observed.
- In some cases, the central pair rotates at the axoneme base, explaining its intermittent appearance.
- This rotation provides a structural explanation for the observed ultrastructural anomalies in PCD.
Implications:
- Understanding the precise ultrastructural changes aids in diagnosing PCD.
- Elucidating the mechanism of ciliary dysfunction can inform therapeutic strategies for PCD.
- This research deepens the understanding of ciliary structure-function relationships in health and disease.
