Cited by 245Telomeres, Telomerase, and SenescenceInterstitial Lung Diseases and Idiopathic Pulmonary FibrosisOccupational and environmental lung diseases

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Telomerase and idiopathic pulmonary fibrosis

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Armanios, Mary·2012·Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

DOI 10.1016/j.mrfmmm.2011.10.013PMC PMC3292861

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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.

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Authors: Armanios, M.
Affiliations: Johns Hopkins University (US)
Corresponding author: Armanios, Mary
ORCID: Armanios, Mary
Venue: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Publisher: Elsevier BV
Published: 2012-02
Volume: 730
Issue: 1-2
Pages: 52-58
ISSN: 0027-5107 (ISSN-L)
1386-1964
DOI: 10.1016/j.mrfmmm.2011.10.013
PMC: PMC3292861
OpenAlex: W1973305610
Cited by: 245
References: 56
Citations by year: 2026: 1 · 2025: 11 · 2024: 4 · 2023: 13 · 2022: 19 · 2021: 19 · 2020: 16 · 2019: 25 · 2018: 18 · 2017: 18 · 2016: 18 · 2015: 25 · 2014: 24 · 2013: 16 · 2012: 16
FWCI: 1.99
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc-nd
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by-nc-nd/3.0/ (vor, 531 d)
Locations: Mutation research. Fundamental and molecular mechanisms of mutagenesis (publishedVersion, cc-by-nc-nd)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: Maryland Stem Cell Research Fund
Flight Attendant Medical Research Institute
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
Keywords: idiopathic pulmonary fibrosis, telomerase, hTERT, hTR, germline mutations, telomere shortening, bone marrow failure, cryptogenic cirrhosis, genetic anticipation
MeSH terms: Age Factors, Bone Marrow Diseases, Emphysema, Genes, Dominant, Humans, Pulmonary Fibrosis, Telomerase, Dyskeratosis Congenita, Genetic Predisposition to Disease, Telomere Shortening

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