Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics - PubMed
4 hours ago
- #RPGR
- #F-actin dynamics
- #primary ciliary dyskinesia
- RPGR variants impair motile cilia function, leading to primary ciliary dyskinesia (PCD) and lung issues.
- RPGR deficiency disrupts F-actin dynamics, causing abnormal F-actin meshwork accumulation in multiciliated cells.
- Cilia defects in RPGR variants include reduced ciliation, shorter cilia, impaired or incoordinate beat, affecting mucociliary clearance.
- Treatments with Latrunculin A or Y27632 can ameliorate cilia defects by targeting F-actin dynamics.
- All RPGR variants impact motile cilia, but PCD is primarily associated with variants affecting both isoforms, while RPGRORF15 variants also show anomalies.