Evaluation of Functional Activity of Ciliated Epithelium in Patients with Primary Ciliary Dyskinesia
- 1Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics” (RCMG), 1 Moskvorechye St., 115522 Moscow, Russia
Abstract
Primary ciliary dyskinesia (PCD) is a heterogeneous recessive disorder of cilia that leads to respiratory tract disorders and organ laterality defects. Objectives: This study was designed to diagnose PCD in patients using various methods: genetic, immunofluorescence, transmission electron microscopy (TEM), and assessment of ciliary beat frequency (CBF) in ALI cultures. Methods: The study included (n = 35) patients with primary ciliary dyskinesia and (n = 10) healthy controls (HC). The diagnosis of PCD was established using molecular genetic analysis: WES, TEM, immunofluorescence staining of ALI-culture, and high-speed videomicroscopy. Ciliogenesis of ciliated epithelial cells was performed in patients with PCD and HC to improve the diagnosis of PCD. Results: Genetic sequencing was conducted for all patients and variants in 17 genes were found. All variants were known. A comparison of CBF assessment in PCD patients and HC using high-speed videomicroscopy showed that the CBF in PCD patient nasal cells was significantly reduced (p < 0.0001), with sensitivity of 91% and specificity of 89.2%. CBF was independent of age and showed no statistical difference between adults and children. Conclusions: The diagnosis of PCD was confirmed in all patients using various diagnostic methods, including the assessment of CBF of ALI culture. The creation of databases of ALI cultures, combined with genotypic and structural abnormalities, is necessary both for diagnosis and, in the future, for use as models in the development of targeted therapies and for assessing their effectiveness.
Related
- Evaluation of Cytotoxicity of Ribavirin and Hydroxychloroquine Used in Treatment of Coronavirus Disease 2019 on Mucosal Epithelium: An in vitro Study
- Ciliated foregut cyst of the pancreas mimicking a cystic neoplasm
- DNAH5‐Associated Primary Ciliary Dyskinesia With Natural Paternity and Advanced Bronchiectasis
- Making the Diagnosis of Primary Ciliary Dyskinesia in Australia
- Impulse control disorder is linked to dyskinesia development through a cortical network in Parkinson’s disease
BibTeX
@article{kyian2026evaluation,
title = {{Evaluation of Functional Activity of Ciliated Epithelium in Patients with Primary Ciliary Dyskinesia}},
author = {Tatiana Kyian and Anna Demchenko and Olga Solovova and Maxim Tarasov and Svetlana Smirnikhina and Aleksandra Nazarova and Elizaveta Bragina and Oksana Ryzhkova and Elena Kondratyeva and Sergey Kutsev},
journal = {Diagnostics},
year = {2026},
month = oct,
doi = {10.3390/diagnostics16213521},
url = {https://doi.org/10.3390/diagnostics16213521},
note = {CC BY},
}
RIS
TY - JOUR
TI - Evaluation of Functional Activity of Ciliated Epithelium in Patients with Primary Ciliary Dyskinesia
AU - Tatiana Kyian
AU - Anna Demchenko
AU - Olga Solovova
AU - Maxim Tarasov
AU - Svetlana Smirnikhina
AU - Aleksandra Nazarova
AU - Elizaveta Bragina
AU - Oksana Ryzhkova
AU - Elena Kondratyeva
AU - Sergey Kutsev
PY - 2026
DA - 2026/10/01
JO - Diagnostics
DO - 10.3390/diagnostics16213521
UR - https://doi.org/10.3390/diagnostics16213521
AB - Primary ciliary dyskinesia (PCD) is a heterogeneous recessive disorder of cilia that leads to respiratory tract disorders and organ laterality defects. Objectives: This study was designed to diagnose PCD in patients using various methods: genetic, immunofluorescence, transmission electron microscopy (TEM), and assessment of ciliary beat frequency (CBF) in ALI cultures. Methods: The study included (n = 35) patients with primary ciliary dyskinesia and (n = 10) healthy controls (HC). The diagnosis of PCD was established using molecular genetic analysis: WES, TEM, immunofluorescence staining of ALI-culture, and high-speed videomicroscopy. Ciliogenesis of ciliated epithelial cells was performed in patients with PCD and HC to improve the diagnosis of PCD. Results: Genetic sequencing was conducted for all patients and variants in 17 genes were found. All variants were known. A comparison of CBF assessment in PCD patients and HC using high-speed videomicroscopy showed that the CBF in PCD patient nasal cells was significantly reduced (p < 0.0001), with sensitivity of 91% and specificity of 89.2%. CBF was independent of age and showed no statistical difference between adults and children. Conclusions: The diagnosis of PCD was confirmed in all patients using various diagnostic methods, including the assessment of CBF of ALI culture. The creation of databases of ALI cultures, combined with genotypic and structural abnormalities, is necessary both for diagnosis and, in the future, for use as models in the development of targeted therapies and for assessing their effectiveness.
SN - 2075-4418
ER -