Progressive Lung Disease and Surfactant Dysfunction with a Deletion in Surfactant Protein C Gene

• Published in: American journal of respiratory cell and molecular biology Vol. 30; no. 6; pp. 771 - 776
• Main Authors: Hamvas, Aaron, Nogee, Lawrence M, White, Frances V, Schuler, Pamela, Hackett, Brian P, Huddleston, Charles B, Mendeloff, Eric N, Hsu, Fong-Fu, Wert, Susan E, Gonzales, Linda W, Beers, Michael F, Ballard, Philip L
• Format: Journal Article
• Language: English
• Published: United States Am Thoracic Soc 01.06.2004; American Thoracic Society
• Subjects: Adult; Animals; Child; Disease Progression; Exons; Female; Humans; Infant; Lung - metabolism; Lung - pathology; Lung - ultrastructure; Lung Diseases, Interstitial - genetics; Lung Diseases, Interstitial - pathology; Lung Transplantation; Male; Mice; Mutation; Peptides - metabolism; Pulmonary Surfactant-Associated Protein C - genetics; Pulmonary Surfactant-Associated Protein C - metabolism; Pulmonary Surfactants - metabolism; RNA - metabolism

Mutations in the surfactant protein (SP)-C gene are responsible for familial and sporadic interstitial lung disease (ILD). The consequences of such mutations on pulmonary surfactant composition and function are poorly understood. To determine the effects of a mutation in the SP-C gene on surfactant,...