title: Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia.
abstract: No study has evaluated the correlation between different expression of nitric oxide synthase (NOS) isoforms in nasal epithelial cells and nasal NO (nNO) level in primary ciliary dyskinesia (PCD). Gene expression of endothelial (NOS3) and inducible NOS (NOS2) and their correlation with nNO level, ciliary function and morphology were studied in patients with PCD or secondary ciliary dyskinesia (SCD). NOS3 gene polymorphisms were studied in blood leukocytes. A total of 212 subjects were studied (48 with PCD, 161 with SCD and three normal subjects). nNO level correlated with mean ciliary beat frequency (p = 0.044; r = 0.174). The lower the nNO level the higher was the percentage of immotile cilia (p<0.001; r = -0.375). A significant positive correlation between NOS2 gene expression and nNO levels was demonstrated in all children (p = 0.001; r = 0.428), and this correlation was confirmed in patients with PCD (p = 0.019; r = 0.484). NOS2 gene expression was lower in PCD than in SCD (p = 0.04). The NOS3 isoform correlated with missing central microtubules (p = 0.048; r = 0.447). nNO levels were higher in PCD subjects with the NOS3 thymidine 894 mutation, and this was associated with a higher ciliary beat frequency (p = 0.045). These results demonstrate a relationship between nNO level, NOS mRNA expression and ciliary beat frequency.
authors.affiliation: Dept of Pediatrics, University of Pisa, Via Roma 67, 56126 Pisa, Italy. m.pifferi@med.unipi.it
authors.forename: M
authors.initials: M
authors.lastname: Pifferi
authors.forename: A
authors.initials: A
authors.lastname: Bush
authors.forename: F
authors.initials: F
authors.lastname: Maggi
authors.forename: A
authors.initials: A
authors.lastname: Michelucci
authors.forename: V
authors.initials: V
authors.lastname: Ricci
authors.forename: M E
authors.initials: ME
authors.lastname: Conidi
authors.forename: A M
authors.initials: AM
authors.lastname: Cangiotti
authors.forename: A
authors.initials: A
authors.lastname: Bodini
authors.forename: P
authors.initials: P
authors.lastname: Simi
authors.forename: P
authors.initials: P
authors.lastname: Macchia
authors.forename: A L
authors.initials: AL
authors.lastname: Boner
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002925:Ciliary Motility Disorders / Q000201:enzymology / Q000378:metabolism; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000201:enzymology* / Q000378:metabolism*; D007962:Leukocytes / Q000166:cytology; D008297:Male; D009569:Nitric Oxide / Q000378:metabolism*; D019001:Nitric Oxide Synthase / Q000096:biosynthesis* / Q000378:metabolism; D009666:Nose / Q000473:pathology; D011110:Polymorphism, Genetic; D020033:Protein Isoforms
chemical_list: D020033:Protein Isoforms; D009569:Nitric Oxide; D019001:Nitric Oxide Synthase