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Machine Learning Analysis of Cilia-Driven Particle Transport Distinguishes Primary Ciliary Dyskinesia Cilia from Normal Cilia

Created on 05 Nov 2025

Authors

Hadas, N., Xu, H., Neupane, S., Twan, W. K., Elgamal, A., Horani, A.

Abstract

Rational. Primary ciliary dyskinesia (PCD) is a genetic condition that results in dysmotile cilia and abnormal mucociliary clearance. Despite advances in understanding the pathogenesis of PCD, diagnosis continues to be challenging. Here we used feature-based machine learning and image-based deep learning to objectively quantify the directed particle transport of motile cilia and detect PCD-related cilia dysfunction. Methods. Fluorescent microspheres were captured on cultured multiciliated cells using high-speed video microscopy as a proxy for motile cilia function. An interactive Jython script was designed to automatically detect, track and extract raw track metrics from videos. Data was subsequently analyzed to approximate a quantifiable and visual signature of ciliary transport through a custom-built Python Package, CiliaTracks. Results. Airway epithelial cells were obtained from 14 individuals with genetically confirmed PCD, 10 healthy donors, and 2 patients with cystic fibrosis. A total of 602 videos (301 PCD and 301 non-PCD) were captured. Quantitative and visual analyses of fluorescent microsphere trajectories, including kinematic metrics and trajectory plots, revealed distinct motility profiles between PCD and non-PCD samples. Classical machine learning models and a convolutional neural network were employed to classify PCD using both modalities, demonstrating excellent accuracy of 95-97%, and the capacity to differentiate PCD from normal cells or cystic fibrosis. Conclusion. Cilia-propelled microsphere transport exhibits unique trajectory patterns in PCD, enabling differentiation from non-PCD samples. Machine learning provides an objective and accurate framework for characterizing ciliary dysfunction, offering potential as a diagnostic tool for PCD.

Preprint server: bioRxiv
The authors list and abstract were imported from bioRxiv on 05 Nov 2025.

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