Document Detail

Surfactant composition and function in patients with ABCA3 mutations.
MedLine Citation:
PMID:  16641205     Owner:  NLM     Status:  MEDLINE    
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.
Tami H Garmany; Michael A Moxley; Frances V White; Michael Dean; William M Hull; Jeffrey A Whitsett; Lawrence M Nogee; Aaron Hamvas
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural     Date:  2006-04-26
Journal Detail:
Title:  Pediatric research     Volume:  59     ISSN:  0031-3998     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-05-22     Completed Date:  2006-08-01     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  801-5     Citation Subset:  IM    
Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, 63110, USA.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics*
Bronchoalveolar Lavage Fluid
Case-Control Studies
Chromatography, Thin Layer
Pulmonary Surfactant-Associated Protein B / metabolism*
Pulmonary Surfactants / metabolism*
Grant Support
HL 38859/HL/NHLBI NIH HHS; HL54703/HL/NHLBI NIH HHS; R01 65174//PHS HHS; R01 65385//PHS HHS; T32 HD41925/HD/NICHD NIH HHS
Reg. No./Substance:
0/ABCA3 protein, human; 0/ATP-Binding Cassette Transporters; 0/Pulmonary Surfactant-Associated Protein B; 0/Pulmonary Surfactants

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