Document Detail

ENaCbeta and gamma genes as modifier genes in cystic fibrosis.
MedLine Citation:
PMID:  17560176     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Clinical phenotype varies among cystic fibrosis (CF) patients with identical CF transmembrane conductance regulator (CFTR)genotype, suggesting that genetic modifiers exist. Transgenic mice that overexpress SCNN1beta present CF-like lung disease symptoms. Mutations or variants in SCNN1beta may therefore potentially modulate the clinical phenotype in CF patients. METHODS: We analysed by DHPLC SCNN1beta and SCNN1gamma genes in 56 patients with classical CF. Patients were classified into two groups according to their CFTR genotype and their severity: 38 patients with severe genotype and an unexpectedly mild lung phenotype, and 18 patients with mild genotype and a severe lung phenotype. RESULTS: We found 3 patients out of 56 carrying at least one missense mutation. Two were novel (p.Thr313Met in SCNN1beta, p.Leu481Gln in SCNN1gamma) and two were previously described (p.Gly589Ser in SCNN1beta and p.Val546Ileu in SCNNgamma). p.Thr313Met has been identified in a CF patient with mild genotype and severe lung phenotype suggesting that it could act in increasing ENaC activity. The three other variants have been identified in CF patients with severe genotype and mild lung phenotype suggesting that they might decrease ENaC activity. However, the function of ENaC in the nasal epithelia of these patients, evaluated by nasal potential difference measurements, did not support the fact that these variants were functional, at least in nasal epithelium. CONCLUSION: Our results suggest that genetic variants in ENaCbeta and gamma genes do not modulate disease severity in the majority of CF patients.
Marion Viel; Chrystel Leroy; Dominique Hubert; Isabelle Fajac; Thierry Bienvenu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-06-07
Journal Detail:
Title:  Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society     Volume:  7     ISSN:  1569-1993     ISO Abbreviation:  J. Cyst. Fibros.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2008-01-14     Completed Date:  2008-04-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101128966     Medline TA:  J Cyst Fibros     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  23-9     Citation Subset:  IM    
Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin (AP-HP), 123 boulevard de Port Royal, 75014, Paris, France.
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MeSH Terms
Cohort Studies
Cystic Fibrosis / genetics*,  physiopathology*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Epithelial Sodium Channel / genetics*
Forced Expiratory Volume
Genetic Heterogeneity
Mutation, Missense / genetics
Nasal Mucosa / metabolism
Severity of Illness Index
Reg. No./Substance:
0/CFTR protein, human; 0/Epithelial Sodium Channel; 0/SCNN1B protein, human; 0/SCNN1G protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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