Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Med Sci. 2011 Jun;341(6):439-43. doi: 10.1097/MAJ.0b013e31821a9d7a.

Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis.

Author information

1
Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232-2650, USA. william.lawson@vanderbilt.edu

Abstract

Idiopathic pulmonary fibrosis (IPF) is the most common form of the idiopathic interstitial pneumonias and remains a disease with a poor prognosis. Familial interstitial pneumonia (FIP) occurs when 2 or more individuals from a given family have an idiopathic interstitial pneumonia. FIP cases have been linked to mutations in surfactant protein C, surfactant protein A2, telomerase reverse transcriptase and telomerase RNA component. Together, mutations in these 4 genes likely explain only 15% to 20% of FIP cases and are even less frequent in sporadic IPF. However, dysfunctional aspects of the pathways that are involved with these genes are present in sporadic forms of IPF even in the absence of mutations, suggesting common underlying disease mechanisms. By serving as a resource for identifying the current and future genetic links to disease, FIP families hold great promise in defining IPF pathogenesis, potentially suggesting targets for the development of future therapies.

PMID:
21613931
PMCID:
PMC3103077
DOI:
10.1097/MAJ.0b013e31821a9d7a
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center