title: Surfactant proteins and genetic predisposition to respiratory distress syndrome.
abstract: Respiratory distress syndrome (RDS) is caused by surfactant deficiency at birth. The risk of RDS decreases from the gestational age of 24 weeks to full-term. Genetic and acquired factors additionally influence the risk of RDS. Surfactant deficiency in RDS is mainly caused by immaturity and a lack of differentiation of the alveolar epithelial cells involved in surfactant synthesis and secretion. A network of hormones and growth factors regulate perinatal development. Host-related factors, including the levels of expression of surfactant proteins (SP), modulate the responsiveness of growth factors. SP-A has roles in surface activity and regulatory roles particularly in innate immunity; SP-B is essential for the processing of surfactant and for the surface activity; SP-C has roles in surfactant metabolism and function; the regulatory roles of SP-D mainly pertain to innate immunity. The genetic variation of SP-A and SP-B genes and the risk of RDS have been studied. Both SP-A and SP-B associate with susceptibility to RDS. The association between the SP-A allele and genotypes and the risk of RDS is dependent on the SP-B genotype and significantly influenced by the degree of prematurity, antenatal glucocorticoid therapy, multiple birth, and birth order. The alleles/genotypes of SP-A, SP-C, or SP-D also associate with several other inflammatory lung and airway diseases. Rare mutations in SP-B or SP-C cause serious, often fatal lung diseases. Genetic and post-genomic research is likely to eventually result in new diagnostic applications and specific therapies for the prevention of respiratory failure and inflammatory lung diseases.
authors.affiliation: Department of Pediatrics and Biocenter Oulu, University of Oulu, Finland. Mikko.Hallman@oulu.fi
authors.forename: Mikko
authors.initials: M
authors.lastname: Hallman
authors.forename: Ritva
authors.initials: R
authors.lastname: Haataja
authors.forename: Riitta
authors.initials: R
authors.lastname: Marttila
mesh_terms: D005314:Embryonic and Fetal Development / Q000235:genetics / Q000502:physiology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D011110:Polymorphism, Genetic; D037661:Pulmonary Surfactant-Associated Proteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics* / Q000378:metabolism
chemical_list: D037661:Pulmonary Surfactant-Associated Proteins