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Updated: May 1, 2026
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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
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Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia
Massimo Pifferi1, Andrew Bush, Angela Michelucci
1Department of Pediatrics, University Hospital of Pisa, Pisa, Italy.
Pediatric Pulmonology
|April 23, 2014
Summary
Mannose-binding lectin (MBL) gene variations showed a minor impact on lung function decline in Primary Ciliary Dyskinesia (PCD) and secondary ciliary dyskinesia (SCD). Bronchodilator response and bronchiectasis severity were linked to specific MBL2 genotypes in both conditions.
Area of Science:
- Immunology
- Genetics
- Pulmonology
Background:
- Mannose-binding lectin (MBL) is crucial for innate immunity.
- MBL has been linked to age-related lung function decline in cystic fibrosis.
Purpose of the Study:
- To investigate the association between MBL polymorphisms and lung function decline in Primary Ciliary Dyskinesia (PCD).
Main Methods:
- Spirometry, ciliary motion analysis, ultrastructural cilia assessment, and ciliogenesis in culture were performed.
- Chest CT scans and MBL-2 gene single nucleotide polymorphism analysis were conducted in children with suspected PCD or secondary ciliary dyskinesia (SCD).
Main Results:
- A significant bronchodilator response was observed in PCD patients with the MBL2-3 genotype, associated with low MBL levels.
- Bronchiectasis severity was greater in both PCD and SCD subjects with the MBL2-3 genotype.
- No other significant associations were found between MBL genotypes and clinical findings.
Conclusions:
- MBL appears to play a minor role in modifying disease progression in PCD.
- Similar findings in SCD suggest the broader relevance of MBL's limited role in ciliary dyskinesia.
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