Molecular mechanisms in progressive idiopathic pulmonary fibrosis

Annu Rev Med. 2013:64:265-76. doi: 10.1146/annurev-med-042711-142004. Epub 2012 Sep 27.

Abstract

There is clear evidence that environmental exposures and genetic predisposition contribute to the pathogenesis of idiopathic pulmonary fibrosis (IPF). Cigarette smoking increases the risk of developing IPF several-fold, as do other exposures such as metal-fume and wood-dust exposure. Occupations that increase the risk of IPF are agricultural work, hairdressing, and stone polishing, supporting the role of environmental exposure in disease pathogenesis. Genetic predisposition to IPF is evident from its familial aggregation and the fact that pulmonary fibrosis develops in several rare genetic disorders. Mutations in surfactant proteins lead to pulmonary fibrosis and are associated with endoplasmic reticulum stress in alveolar type II epithelial cells. Mutations in telomerase have been found in several families with IPF, and shortened telomeres are found in sporadic cases of IPF. A common variant in mucin 5B predisposes to both familial and sporadic IPF and is present in the majority of cases, indicating sporadic IPF occurs in those with genetic predisposition.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Humans
  • Idiopathic Pulmonary Fibrosis / genetics*
  • Idiopathic Pulmonary Fibrosis / metabolism
  • Mutation*
  • Pulmonary Surfactant-Associated Protein A / genetics*
  • Pulmonary Surfactant-Associated Protein A / metabolism
  • Pulmonary Surfactant-Associated Protein C / genetics*
  • Pulmonary Surfactant-Associated Protein C / metabolism
  • RNA / genetics*
  • Risk Factors

Substances

  • Pulmonary Surfactant-Associated Protein A
  • Pulmonary Surfactant-Associated Protein C
  • RNA