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Eupatilin improves cilia defects in human CEP290 ciliopathy models
J C Corral-Serrano1, P E Sladen1, D Ottaviani1,2
1UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
The flavonoid eupatilin shows promise as a treatment for CEP290-related ciliopathies, improving cilium structure and function in patient models. This variant-independent approach could benefit a wider range of retinal diseases.
Area of Science:
- Ophthalmology and genetics
- Cell biology and molecular mechanisms
Background:
- CEP290 variants cause Leber congenital amaurosis 10 (LCA10) and other ciliopathies affecting vision.
- Current treatments for CEP290 variants are variant-specific, necessitating broader approaches.
Approach:
- Generated human cell and organoid models of CEP290-related retinal disease.
- Investigated the therapeutic potential of the flavonoid eupatilin.
Key Points:
- Eupatilin enhanced cilium formation and length in patient-derived cells and retinal organoids.
- Eupatilin reduced rhodopsin mislocalization and modulated gene expression in retinal organoids.
- The flavonoid demonstrated potential as a variant-independent therapeutic strategy.
Conclusions:
- Eupatilin shows promise as a variant-independent treatment for CEP290-associated ciliopathies.
- This study elucidates eupatilin's mechanism of action, targeting cilia and synaptic pathways.
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