Surfactant composition and function in patients with ABCA3 mutations

Tami H. Garmany*, Michael A. Moxley, Frances V. White, Michael Dean, William M. Hull, Jeffrey A. Whitsett, Lawrence M. Nogee, Aaron Hamvas

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

87 Scopus citations

Abstract

Mutations in the gene encoding the ATP binding cassette transporter member A3 (ABCA3) are associated with fatal surfactant deficiency. ABCA3 lines the limiting membrane of lamellar bodies within alveolar type-II cells, suggesting a role in surfactant metabolism. The objective of this study was to determine the surfactant phospholipid composition and function in patients with mutations in the ABCA3 gene. Bronchoalveolar lavage (BAL) fluid was analyzed from three groups of infants: 1) Infants with ABCA3 mutations, 2) infants with inherited surfactant protein-B deficiency (SP-B), and 3) patients without parenchymal lung disease (CON). Surfactant phospholipid profile was determined using two-dimensional thin-layer chromatography, and surface tension was measured with a pulsating bubble surfactometer. Phosphatidylcholine comprised 41 ± 19% of the total phospholipid in the BAL fluid of the ABCA3 group compared with 78 ± 3% and 68 ± 18%, p = 0.008 and 0.05, of the CON and SP-B groups, respectively. Surface tension was 31.5 ± 9.3 mN/m and was significantly greater than CON but no different from SP-B. We conclude that mutations in ABCA3 are associated with surfactant that is deficient in phosphatidylcholine and has decreased function, suggesting that ABCA3 plays an important role in pulmonary surfactant phospholipid homeostasis.

Original languageEnglish (US)
Pages (from-to)801-805
Number of pages5
JournalPediatric research
Volume59
Issue number6
DOIs
StatePublished - Jun 2006

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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