Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Surfactant composition and function in patients with ABCA3 mutations.

Tami H Garmany1, Michael A Moxley, Frances V White

  • 1Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, 63110, USA. garmany_t@kids.wustl.edu

Pediatric Research
|April 28, 2006
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

KLF6 activation marks an angiogenic and apoptosis resistant endothelial phenotype in pulmonary arterial hypertension.

Communications biology·2026
Same author

Implementation of a coarctation personalized longitudinal algorithm for newborns (Coarc-PLAN) in the care of patients with prenatal concern for coarctation of the aorta.

Journal of perinatology : official journal of the California Perinatal Association·2026
Same author

Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants.

American journal of respiratory cell and molecular biology·2026
Same author

Cell fate specification during respiratory development requires ARID1A-containing canonical BAF complex activity.

Nature communications·2026
Same author

Placental histopathology and early childhood neurodevelopment in the Environmental influences on Child Health Outcomes cohort.

American journal of obstetrics and gynecology·2026
Same author

Divergent pathways of surfactant protein C maturation for disease-associated isoforms.

The Journal of biological chemistry·2026
Same journal

Choice, confounding, and consequence: twenty years of empiric antibiotics for neonatal early-onset sepsis.

Pediatric research·2026
Same journal

Comparing in-person and online recruitment methods in a prospective pediatric cohort study.

Pediatric research·2026
Same journal

Craniosynostosis and neurodevelopment: reframing a surgical condition as a global developmental risk.

Pediatric research·2026
Same journal

Neurologic sequelae of cerebral malaria and other forms of severe malaria in children.

Pediatric research·2026
Same journal

Home and in-hospital phototherapy as comparable select routine approach for neonatal hyperbilirubinemia.

Pediatric research·2026
Same journal

Polycyclic aromatic hydrocarbons and perinatal outcomes: a scoping review.

Pediatric research·2026
See all related articles

Mutations in the ATP binding cassette transporter member A3 (ABCA3) gene lead to surfactant deficiency. This study found ABCA3 mutations cause reduced phosphatidylcholine in lung surfactant, impairing its function.

Area of Science:

  • Pulmonary Medicine
  • Biochemistry
  • Genetics

Background:

  • Mutations in the ATP binding cassette transporter member A3 (ABCA3) gene are linked to fatal surfactant deficiency.
  • ABCA3 is localized in lamellar bodies of alveolar type-II cells, indicating its role in surfactant metabolism.

Purpose of the Study:

  • To investigate the surfactant phospholipid composition and function in infants with ABCA3 gene mutations.

Main Methods:

  • Analysis of bronchoalveolar lavage (BAL) fluid from three infant groups: ABCA3 mutations, surfactant protein-B (SP-B) deficiency, and controls (CON).
  • Two-dimensional thin-layer chromatography for surfactant phospholipid profiling.
  • Pulsating bubble surfactometry to measure surface tension.

Main Results:

Related Experiment Videos

  • Infants with ABCA3 mutations showed significantly lower phosphatidylcholine levels (41%) compared to controls (78%) and SP-B deficient infants (68%).
  • Surfactant from ABCA3 mutation patients exhibited significantly higher surface tension than controls, indicating impaired function.

Conclusions:

  • ABCA3 gene mutations are associated with pulmonary surfactant deficient in phosphatidylcholine.
  • These findings highlight ABCA3's critical role in maintaining surfactant phospholipid homeostasis and lung function.