Surfactant gene polymorphisms and interstitial lung diseases.
Pulmonary surfactant is a complex mixture of phospholipids and proteins, which is present in the alveolar lining fluid and is essential for normal lung function. Alterations in surfactant composition have been reported in several interstitial lung diseases (ILDs). Furthermore, a mutation in the surfactant protein C gene that results in complete absence of the protein has been shown to be associated with familial ILD. The role of surfactant in lung disease is therefore drawing increasing attention following the elucidation of the genetic basis underlying its surface expression and the proof of surfactant abnormalities in ILD.
Pantelidis
Panagiotis
P
Interstitial Lung Disease Unit, Department of Occupational and Environmental Medicine, Imperial College of Science, Technology and Medicine, National Heart and Lung Institute, & Royal Brompton Hospital, London, UK. s.veeraraghavan@ic.ac.uk
Veeraraghavan
Srihari
S
du Bois
Roland M
RM
D000818:Animals; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000235:genetics*; D010743:Phospholipids / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics*
D010743:Phospholipids; D037661:Pulmonary Surfactant-Associated Proteins