Surfactant proteins and genetic predisposition to respiratory distress syndrome

Semin Perinatol. 2002 Dec;26(6):450-60. doi: 10.1053/sper.2002.37314.

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.

Publication types

  • Review

MeSH terms

  • Embryonic and Fetal Development / genetics
  • Embryonic and Fetal Development / physiology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Male
  • Polymorphism, Genetic
  • Pulmonary Surfactant-Associated Proteins / deficiency
  • Pulmonary Surfactant-Associated Proteins / genetics*
  • Pulmonary Surfactant-Associated Proteins / metabolism
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Respiratory Distress Syndrome, Newborn / metabolism

Substances

  • Pulmonary Surfactant-Associated Proteins