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ABCA3 mutations associated with pediatric interstitial lung disease.

Janine E Bullard1, Susan E Wert, Jeffrey A Whitsett

  • 1Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

American Journal of Respiratory and Critical Care Medicine
|June 25, 2005
PubMed
Summary

Mutations in the ABCA3 gene, which affects surfactant production, can cause interstitial lung disease in children, not just fatal neonatal conditions. This finding expands the known spectrum of ABCA3-related lung disease.

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Area of Science:

  • Genetics
  • Pulmonology
  • Biochemistry

Background:

  • ABCA3 protein facilitates substrate transport across cellular membranes.
  • ABCA3 gene mutations are linked to fatal neonatal surfactant deficiency.
  • The role of ABCA3 in pediatric lung disease requires further investigation.

Purpose of the Study:

  • To investigate if ABCA3 mutations cause pediatric interstitial lung disease.
  • To determine if ABCA3 mutations are associated with chronic lung disease in children beyond the neonatal period.

Main Methods:

  • Sequencing of the ABCA3 gene in 195 children with unexplained chronic lung disease.
  • Focus on four children diagnosed with desquamative interstitial pneumonitis.
  • Immunohistochemical analysis of surfactant protein expression.

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Main Results:

  • Three of four patients with desquamative interstitial pneumonitis had ABCA3 mutations on both alleles, including a common E292V missense mutation.
  • The E292V mutation was absent in healthy adult controls.
  • Immunohistochemistry revealed abnormal surfactant protein-B expression, similar to infants with fatal ABCA3 lung disease.

Conclusions:

  • ABCA3 mutations are a cause of interstitial lung disease in pediatric patients.
  • The E292V mutation is implicated in a subset of pediatric interstitial lung disease.
  • ABCA3 mutations present a broader spectrum of lung disease than previously recognized.