ABCA3+/- mice have significantly decreased amounts of phosphatidylcholine and phosphatidylglycerol in lung tissue

Introduction: ABCA3 (ATP-binding cassette A3 transporter) is found predominantly in the membrane of lamellar bodies in lung type II alveolar cells, where it mediates ATP-dependent import of surfactant phospholipids. Haplotype analysis of the ABCA3 gene has identified a polymorphism which is significantly associated with respiratory distress and bronchopulmonary dysplasia in premature infants. Heterozygosity of ABCA3 mutations is also known to affect the severity of lung disease associated with other surfactant protein mutations. ABCA3 deficiency in humans and mice results in decreased phospholipid content, absen…