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Published on: January 19, 2022
Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals
Elif Karakoç1, Rim Hjeij2, Zeynep Bengisu Kaya1,3
1Department of Histology and Embryology, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.
Insights
Immunofluorescence (IF) is an effective diagnostic tool for primary ciliary dyskinesia (PCD), especially when genetic data is limited. This cost-effective method aids in diagnosing PCD by identifying ciliary protein deficiencies.
Area of Science:
- Medical Diagnostics
- Genetics
- Cell Biology
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting motile cilia, leading to respiratory and ear infections.
- Turkey has a high prevalence of PCD, potentially linked to consanguinity.
- Diagnosing PCD is challenging, particularly when genetic data is scarce.
Purpose of the Study:
- To evaluate the efficacy of immunofluorescence (IF) for diagnosing PCD in Turkey.
- To correlate IF findings with clinical symptoms in PCD-suspected individuals.
- To assess IF as a diagnostic tool in the absence of genetic data.
Main Methods:
- Immunofluorescence (IF) analysis was performed on 54 individuals suspected of having PCD (ages 5-27).
- The study included individuals with and without available genomic data.
- IF was used to confirm genetic variants' pathogenicity and diagnose PCD based on ciliary protein absence.
Main Results:
- All participants exhibited airway infections and clinical PCD symptoms.
- Absence of specific ciliary proteins (DNAH5, GAS8, DNAH11, RSPH9, ARMC4) was detected in various subgroups.
- IF confirmed the pathogenicity of ARMC4 variants by showing absence of ARMC4 and altered DNAH5 localization.
Conclusions:
- Immunofluorescence (IF) is a powerful, cost-effective diagnostic method for PCD.
- IF provides a quicker turnaround time compared to other diagnostic methods.
- IF is valuable for diagnosing PCD, even without genetic data or electron microscopy.
Abstract:
Background/Objectives: Primary ciliary dyskinesia (PCD) (OMIM: 244400) is a hereditary, rare disorder with a high prevalence in Turkey due to a high rate of consanguinity. The disorder is caused by malfunctioning motile cilia and is characterized by a variety of clinical symptoms including sinusitis, otitis media and chronic obstructive pulmonary disease. This study presents the first assessment of the efficacy of immunofluorescence (IF) labeling for diagnosing PCD in Turkey by correlating IF with clinical observations when genetic data are scarce. Methods: We have a cohort of 54 PCD-suspected individuals with an age range of 5-27 years classified into two groups: group A with available genomic data (8 individuals) and group B with no available genomic data (46 individuals). We performed immunofluorescence analysis to confirm the pathogenicity of the variants in individuals with a prior genetic diagnosis and to confirm a PCD diagnosis in individuals with typical PCD symptoms and no genetic diagnosis. Results: All individuals had airway infections and displayed clinical symptoms of PCD. Our data revealed an absence of outer dynein arm dynein heavy chain DNAH5 in individuals with pathogenic variants in DNAH5 and DNAAF1 and in 17 other PCD-suspected individuals, an absence of nexin-dynein regulatory complex component GAS8 in 8 PCD-suspected individuals, an absence of outer dynein arm dynein heavy chain DNAH11 in 6 PCD-suspected individuals and an absence of radial spoke head component RSPH9 in 2 PCD-suspected individuals. Furthermore, the pathogenicity of ARMC4 variants was confirmed by the absence of the outer dynein arm docking complex component ARMC4 and the proximal localization of DNAH5. Conclusions: Immunofluorescence analysis, owing to its lower cost and quicker turnaround time, proves to be a powerful tool for diagnosing PCD even in the absence of genetic data or electron microscopy results.
