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MUC5B expression and location in surfactant protein C mutations in children

Deborah R Liptzin1, Alan M Watson2, Elissa Murphy2

  • 1Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.

Pediatric Pulmonology
|April 11, 2015
PubMed
Abstract

Insights

Mucin 5B (MUC5B) may contribute to lung fibrosis in children with Surfactant Protein C (SFTPC) gene mutations. Increased MUC5B levels were found in patients, suggesting a potential therapeutic target for fibrotic interstitial lung disease (ILD).

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Cell Biology

Background:

  • Mutations in the Surfactant Protein C (SFTPC) gene cause fibrotic interstitial lung disease (ILD) with varied phenotypes, particularly in pediatric cases.
  • The MUC5B promoter variant rs35705950 is linked to adult Idiopathic Pulmonary Fibrosis (IPF), but its role in SFTPC-related ILD is unclear.

Purpose of the Study:

  • To investigate the association between MUC5B and ILD in pediatric patients with SFTPC mutations.
  • To explore the localization and concentration of MUC5B in relation to SFTPC mutations.

Main Methods:

  • Measured MUC5B concentration in bronchoalveolar lavage fluid (BALF) from pediatric patients with SFTPC mutations and controls.
  • Performed immunohistochemical analysis of MUC5B in lung tissues from patients with SFTPC or ABCA3 mutations and controls.
  • Attempted genotyping for the MUC5B promoter variant rs35705950 in all available samples.

Main Results:

  • MUC5B glycoprotein levels were significantly elevated in the BALF of patients with SFTPC mutations compared to controls (P = 0.04).
  • MUC5B was detected in alveolar epithelial type II cells in patients with SFTPC mutations, particularly those with BRICHOS domain mutations.
  • No significant correlation was found between the MUC5B promoter variant rs35705950 and MUC5B levels or localization in the studied cohort.

Conclusions:

  • MUC5B may play a role in the pathogenesis of lung fibrosis associated with SFTPC mutations, especially in BRICHOS domain variants.
  • Further understanding of MUC5B's function in pediatric and adult fibrotic lung diseases could inform novel therapeutic strategies.
Keywords:
bronchoalveolar lavageinterstitial lung diseasemucinspediatricspulmonary fibrosisrare diseasessingle nucleotide polymorphismsurfactant

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