Format

Send to

Choose Destination
Mutat Res. 2012 Feb 1;730(1-2):52-8. doi: 10.1016/j.mrfmmm.2011.10.013. Epub 2011 Nov 4.

Telomerase and idiopathic pulmonary fibrosis.

Author information

1
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. marmani1@jhmi.edu

Abstract

Idiopathic pulmonary fibrosis (IPF) is the most common manifestation of telomere-mediated disorders. Germline mutations in the essential telomerase genes, hTERT and hTR, are the causal genetic defect in up to one-sixth of pulmonary fibrosis families. The presence of telomerase mutations in this subset is significant for clinical decisions as affected individuals can develop extra-pulmonary complications related to telomere shortening such as bone marrow failure and cryptogenic liver cirrhosis. There is also evidence that IPF is an ancestral manifestation of autosomal dominant telomere syndromes where, with successive generations, the disease evolves from pulmonary fibrosis into a bone marrow failure-predominant disorder, defining a unique form of genetic anticipation. Here I review the significance of telomere defects for understanding the genetics, disease patterns and pathophysiology of IPF. The importance of this diagnosis for patient care decisions will also be discussed.

PMID:
22079513
PMCID:
PMC3292861
DOI:
10.1016/j.mrfmmm.2011.10.013
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

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