BACKGROUND: Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis. HYPOTHESIS: MBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD). METHODS: We performed sputum microbiology, spirometry pre- and post-administration of salbutamol, ciliary motion analysis, ultrastructural assessment of cilia, ciliogenesis in culture, and chest high resolution computed tomography in children with a clinical history of respiratory tract infections and/or presence of bronchiectasis suggestive of PCD or secondary ciliary dyskinesia (SCD). All subjects were evaluated for single nucleotide polymorphisms in the gene encoding MBL-2. RESULTS: The diagnosis of PCD was established in 45 subjects, while in the remaining 53 the diagnosis was SCD. A significant bronchodilator response was observed only in PCD associated with the MBL2-3 genotype, which is known to be associated with low/undetectable MBL serum levels. Also, bronchiectasis severity was significantly greater in subjects with MBL2-3 in both PCD and SCD. No other association was found between MBL genotypes and clinical findings. CONCLUSIONS: MBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result.
BACKGROUND:Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis. HYPOTHESIS: MBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD). METHODS: We performed sputum microbiology, spirometry pre- and post-administration of salbutamol, ciliary motion analysis, ultrastructural assessment of cilia, ciliogenesis in culture, and chest high resolution computed tomography in children with a clinical history of respiratory tract infections and/or presence of bronchiectasis suggestive of PCD or secondary ciliary dyskinesia (SCD). All subjects were evaluated for single nucleotide polymorphisms in the gene encoding MBL-2. RESULTS: The diagnosis of PCD was established in 45 subjects, while in the remaining 53 the diagnosis was SCD. A significant bronchodilator response was observed only in PCD associated with the MBL2-3 genotype, which is known to be associated with low/undetectable MBL serum levels. Also, bronchiectasis severity was significantly greater in subjects with MBL2-3 in both PCD and SCD. No other association was found between MBL genotypes and clinical findings. CONCLUSIONS:MBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result.
Authors: Jane S Lucas; Angelo Barbato; Samuel A Collins; Myrofora Goutaki; Laura Behan; Daan Caudri; Sharon Dell; Ernst Eber; Estelle Escudier; Robert A Hirst; Claire Hogg; Mark Jorissen; Philipp Latzin; Marie Legendre; Margaret W Leigh; Fabio Midulla; Kim G Nielsen; Heymut Omran; Jean-Francois Papon; Petr Pohunek; Beatrice Redfern; David Rigau; Bernhard Rindlisbacher; Francesca Santamaria; Amelia Shoemark; Deborah Snijders; Thomy Tonia; Andrea Titieni; Woolf T Walker; Claudius Werner; Andrew Bush; Claudia E Kuehni Journal: Eur Respir J Date: 2017-01-04 Impact factor: 16.671
Authors: Florian Gahleitner; James Thompson; Claire L Jackson; Jana F Hueppe; Laura Behan; Eleonora Dehlink; Myrofora Goutaki; Florian Halbeisen; Ana Paula L Queiroz; Guillaume Thouvenin; Claudia E Kuehni; Philipp Latzin; Jane S Lucas; Bruna Rubbo Journal: ERJ Open Res Date: 2021-11-29
Authors: Melissa A Wilk; Andrew T Braun; Philip M Farrell; Anita Laxova; Donna M Brown; James M Holt; Camille L Birch; Nadiya Sosonkina; Brandon M Wilk; Elizabeth A Worthey Journal: Cold Spring Harb Mol Case Stud Date: 2020-02-03