Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
Open accessAbstract
BACKGROUND: Idiopathic pulmonary fibrosis is progressive and often fatal; causes of familial clustering of the disease are unknown. Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis. METHODS: To test the hypothesis that familial idiopathic pulmonary fibrosis may be caused by short telomeres, we screened 73 probands from the Vanderbilt Familial Pulmonary Fibrosis Registry for mutations in hTERT and hTR. RESULTS: Six probands (8%) had heterozygous mutations in hTERT or hTR; mutant telomerase resulted in short telomeres. Asymptomatic subjects with mutant telomerase also had short telomeres, suggesting that they may be at risk for the disease. We did not identify any of the classic features of dyskeratosis congenita in five of the six families. CONCLUSIONS: Mutations in the genes encoding telomerase components can appear as familial idiopathic pulmonary fibrosis. Our findings support the idea that pathways leading to telomere shortening are involved in the pathogenesis of this disease.
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Causality of telomere dysfunction in familial and sporadic IPF is indicated by germline mutations in genes involved in telomere maintenance.
“Causality of telomere dysfunction in familial and sporadic IPF is indicated by the detection of germline mutations in genes involved in telomere maintenance57,58.”
From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [57]
The Abstract reports germline mutations in hTERT or hTR in six probands from a familial pulmonary fibrosis registry, and the Discussion links mutant telomerase and short telomeres to familial IPF. This paper does not report germline mutations in sporadic IPF; it only suggests that acquired telomere shortening may contribute to disease in people without telomerase mutations. The passages provide evidence for a causal role in a subgroup of familial cases, but not the claimed evidence from germline mutations in both familial and sporadic IPF. Page numbers are unavailable in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredLung disease is highly penetrant in people with telomerase mutations, despite the lung's slow rate of cell division.
“Clinically, this is most apparent in the high penetrance of pulmonary disease in telomerase mutation carriers, even though the lung has a slow mitotic rate56,99.”
From The telomere syndromes (2012) · cites this paper as [56]
TERT or TR mutations are found in 8-15% of familial IPF and 1-3% of sporadic IPF cases.
“The frequency of these mutations is highest in individuals with the progressive disorder IPF, which accounts for 8–15% of familial and 1–3% of sporadic cases54,56,68,69.”
From The telomere syndromes (2012) · cites this paper as [56]
Patients who have inherited or acquired genetic defects that limit telomere maintenance seem to be at substantially increased risk of a range of conditions including aplastic anaemia, idiopathic pulmonary fibrosis and the rarer dyskeratosis congenita syndrome.
“patients who have inherited or acquired genetic defects that limit telomere maintenance seem to be at substantially increased risk of a range of conditions including aplastic anaemia 61 , idiopathic pulmonary fibrosis 62, 63 and the rarer dyskeratosis congenita syndrome”
From The common biology of cancer and ageing (2007) · cites this paper as [62]
Patients with dyskeratosis congenita and aplastic anaemia show decreased telomerase activity and shortened telomeres owing to mutations in the TERC and TERT telomerase genes.
“By contrast, telomere shortening is accelerated in several human premature ageing syndromes, and patients with dyskeratosis congenita and aplastic anaemia show decreased telomerase activity and shortened telomeres owing to mutations in the TERC and TERT telomerase genes.”
From The common biology of cancer and ageing (2007) · cites this paper as [62]
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- Authors
- Armanios, M. Y., Chen, J. J.-L., Cogan, J. D., Alder, J. K., Ingersoll, R. G., Markin, C., Lawson, W. E., Xie, M., Vulto, I., Phillips, J. A., Lansdorp, P. M., Greider, C. W., & Loyd, J. E.
- Affiliations
- Johns Hopkins University (US)
- Arizona State University (US)
- Vanderbilt University (US)
- University of British Columbia (CA)
- BC Cancer Agency (CA)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2007-03-29
- Volume
- 356
- Issue
- 13
- Pages
- 1317-1326
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2107665433
- Cited by
- 1,357
- References
- 35
- Citations by year
- 2026: 40 · 2025: 69 · 2024: 50 · 2023: 66 · 2022: 80 · 2021: 89 · 2020: 85 · 2019: 86 · 2018: 67 · 2017: 59 · 2016: 60 · 2015: 86 · 2014: 76 · 2013: 72 · 2012: 67
- FWCI
- 66.79
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Francis Family Foundation
- Vanderbilt University
- Johns Hopkins University
- National Institutes of Health
- U.S. Public Health Service (K08 118416, K08 85406)
- National Institute on Aging (R01AG027406)
- National Heart, Lung, and Blood Institute (K08HL085406)
- National Cancer Institute
- National Institute of Allergy and Infectious Diseases (AI 29524)
- National Center for Research Resources (M01RR000095, M01-RR-00095)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
- Keywords
- idiopathic pulmonary fibrosis, familial pulmonary fibrosis, telomerase, hTERT, hTR, telomere shortening, dyskeratosis congenita, germline mutations, genetic disorders, pathogenesis
- MeSH terms
- Female, Genes, Dominant, Heterozygote, Humans, Male, Mutation, Pedigree, Pulmonary Fibrosis, Radiography, RNA, Telomere, Telomerase, Mutation, Missense, Reverse Transcriptase Polymerase Chain Reaction
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