Could a defective epithelial sodium channel lead to bronchiectasis

Fajac, Isabelle; Viel, Marion; Sublemontier, Sébastien; Hubert, D.; Bienvenu, Thierry

doi:10.1186/1465-9921-9-46

Cited by 33 publications

(32 citation statements)

References 25 publications

(40 reference statements)

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“…Fajac et al screened a group of 55 patients with diffuse idiopathic bronchiectasis (permanent dilation of the airways as a result of chronic bronchial infection) by sequencing SCNN1B and SCNN1G exons and identified five heterozygous missense variants (S82C, P369T, N288S in β, and G183S, E197K in γ subunit) in eight patients (Fajac et al, 2008). The S82C mutation was found in three unrelated patients who were also heterozygous for a CFTR mutation.…”

Section: Diseases Associated With Enac Mutationsmentioning

confidence: 99%

Epithelial sodium channel (ENaC) family: Phylogeny, structure–function, tissue distribution, and associated inherited diseases

Hanukoglu

2016

Gene

339

345

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The epithelial sodium channel (ENaC) is composed of three homologous subunits and allows the flow of Na+ ions across high resistance epithelia, maintaining body salt and water homeostasis. ENaC dependent reabsorption of Na+ in the kidney tubules regulates extracellular fluid (ECF) volume and blood pressure by modulating osmolarity. In multi-ciliated cells, ENaC is located in cilia and plays an essential role in the regulation of epithelial surface liquid volume necessary for cilial transport of mucus and gametes in the respiratory and reproductive tracts respectively. The subunits that form ENaC (named as alpha, beta, gamma and delta, encoded by genes SCNN1A, SCNN1B, SCNN1G, and SCNN1D) are members of the ENaC/Degenerin superfamily. The earliest appearance of ENaC orthologs is in the genomes of the most ancient vertebrate taxon, Cyclostomata (jawless vertebrates) including lampreys, followed by earliest representatives of Gnathostomata (jawed vertebrates) including cartilaginous sharks. Among Euteleostomi (bony vertebrates), Actinopterygii (ray finned-fishes) branch has lost ENaC genes. Yet, most animals in the Sarcopterygii (lobe-finned fish) branch including Tetrapoda, amphibians and amniotes (lizards, crocodiles, birds, and mammals), have four ENaC paralogs. We compared the sequences of ENaC orthologs from 20 species and established criteria for the identification of ENaC orthologs and paralogs, and their distinction from other members of the ENaC/Degenerin superfamily, especially ASIC family. Differences between ENaCs and ASICs are summarized in view of their physiological functions and tissue distributions. Structural motifs that are conserved throughout vertebrate ENaCs are highlighted. We also present a comparative overview of the genotype-phenotype relationships in inherited diseases associated with ENaC mutations, including multisystem pseudohypoaldosteronism (PHA1B), Liddle syndrome, cystic fibrosis-like disease and essential hypertension.

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Section: Diseases Associated With Enac Mutationsmentioning

confidence: 99%

Epithelial sodium channel (ENaC) family: Phylogeny, structure–function, tissue distribution, and associated inherited diseases

Hanukoglu

2016

Gene

339

345

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“…Abnormal ciliary motion will lead to recurrent infections due to retention of secretions. A more recent discovery of a congenital cause is that of Fajac et al ,20 who showed that some patients with idiopathic bronchiectasis carried a mutation in the ENaC β or γ genes, giving a defective epithelial sodium channel (ENaC) protein.…”

Section: Diagnosis Of Ncfbmentioning

confidence: 99%

Non-cystic fibrosis bronchiectasis: diagnosis and management in 21st century

Goeminne

Dupont²

2010

Postgraduate Medical Journal

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“…To summarise the results from our 55 patients with bronchiectasis, 10 (18%) patients carried at least one missense mutation in the ENaC alpha (as outlined in this report), beta or gamma genes [1]. Among them, six had evidence of abnormal sodium transport, either in the sweat glands (sweat chloride concentration 40-59 mmol?L -1 ) or in the nasal epithelium (basal nasal potential difference (PD) magnitude .30 mV or ,10 mV).…”

Section: To the Editorsmentioning

confidence: 99%

“…The radiological features of a goitre include: heterogeneous attenuation, focal punctate or curvilinear calcification within the mass, rapid and prolonged enhancement of the mass after contrast injection, and continuity of the mass with one of the lobes of the thyroid gland [1].…”

Section: Diagnosis Of a Posterior Mediastinal Goitre Via Endobronchiamentioning

confidence: 99%

“…We have recently screened ENaC beta and gamma genes in 55 patients with diffuse bronchiectasis and with only one or no CFTR mutation/variant and showed that eight (15%) patients carried at least one missense mutation in these ENaC genes [1]. AZAD et al [2] have also investigated the frequency of ENaC mutations in ENaC alpha, beta and gamma genes in a cohort of 76 patients with cystic fibrosis (CF)-like disease and with only one or no mutation in the CFTR gene.…”

Section: To the Editorsmentioning

confidence: 99%

See 1 more Smart Citation

Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease

Fajac¹,

Viel²,

Gaitch³

et al. 2009

European Respiratory Journal

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Could a defective epithelial sodium channel lead to bronchiectasis

Abstract: Our results suggest that several variants in ENaCbeta and gamma genes might be deleterious for ENaC function and lead to bronchiectasis, especially in patients who are trans-heterozygotes for ENaCbeta/CFTR mutations or variants.

Cited by 33 publications

References 25 publications

Epithelial sodium channel (ENaC) family: Phylogeny, structure–function, tissue distribution, and associated inherited diseases

Epithelial sodium channel (ENaC) family: Phylogeny, structure–function, tissue distribution, and associated inherited diseases

Non-cystic fibrosis bronchiectasis: diagnosis and management in 21st century

Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease

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