What question did this study set out to answer?

This research aims to understand how ODAD1 variants affect ciliary function and cytoskeletal integrity in primary ciliary dyskinesia.

April 1, 2026Cell DiscoveryOpen Access

Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia

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Authors

CHChunxiao HuoChildren's Hospital of Zhejiang University TLTing LuoXuzhou Medical College SYShuo YangSir Run Run Shaw Hospital

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Implication

Findings reveal that loss-of-function variants in ODAD1 disrupt ciliary function and induce cytoskeletal changes in primary ciliary dyskinesia, indicating potential interventions.

Key Points

This research aims to understand how ODAD1 variants affect ciliary function and cytoskeletal integrity in primary ciliary dyskinesia.
Identification of homozygous loss-of-function variants in ODAD1 in patients.
Assessment of ciliary beating frequency in patient-derived epithelial cells.
Ultrastructural analysis using electron microscopy techniques.
Evaluation of actin cytoskeletal changes through proteomic profiling.
Testing pharmacological interventions to rescue multiciliated cell abundance.
Novel loss-of-function and recurrent splicing variants in ODAD1 were identified in seven patients.
Significant reductions in ciliary beating frequency and motility defects were observed in patient-derived cells.
Destruction of outer dynein arms and docking complexes was confirmed via electron microscopy.
Actin cytoskeletal rearrangements included abnormal F-actin bundling and reduced multiciliated cells.
Rescue experiments with cytochalasin B and lentiviral re-expression of ODAD1 restored ciliary functionality.

Cite This Study

Huo et al. (2026) studied this question.

synapsesocial.com/papers/69cd7a815652765b073a7be2 https://doi.org/10.1038/s41421-026-00875-8

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Implication

Findings reveal that loss-of-function variants in ODAD1 disrupt ciliary function and induce cytoskeletal changes in primary ciliary dyskinesia, indicating potential interventions.

Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia

Discussion

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Implication

Key Points

Cite This Study

Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia

Discussion

Member takes

Implication

Key Points

Cite This Study

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