Syndromes of Telomere Shortening
Open accessAbstract
Telomeres and telomerase were initially discovered in pursuit of questions about how the ends of chromosomes are maintained. The implications of these discoveries to age-related disease have emerged in recent years with the recognition of a group of telomere-mediated syndromes. Telomere-mediated disease was initially identified in the context of dyskeratosis congenita, a rare syndrome of premature aging. More recently, mutations in telomerase components were identified in adults with idiopathic pulmonary fibrosis. These findings have revealed that the spectrum of telomere-mediated disease is broad and includes clinical presentations in both children and adults. We have previously proposed that these disorders be collectively considered as syndromes of telomere shortening. Here, the spectrum of these disorders and the unique telomere genetics that underlies them are reviewed. I also propose broader clinical criteria for defining telomere-mediated syndromes outside of dyskeratosis congenita, with the goal of facilitating their diagnosis and highlighting their pathophysiology.
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TERT interacts with the RNA component of mitochondrial RNA processing endoribonuclease and ribonuclease P and can act as an RNA-dependent RNA polymerase.
“In addition, TERT was shown to interact with RNA component of mitochondrial RNA processing endoribonuclease, the RNA component of ribonuclease P, and in this context TERT is able to act as an RNA-dependent RNA polymerase.”
From Telomeres and telomerase in cancer (2010) · cites this paper as [153]
TERT may amplify small non-coding RNAs and exert other activities through this mechanism.
“These findings suggest that TERT may amplify small non-coding RNAs and exert other activities through this mechanism (153).”
From Telomeres and telomerase in cancer (2010) · cites this paper as [153]
The clinically diverse telomere disorders together constitute one syndrome spectrum whose defining feature is short telomere length.
“Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect.”
From The telomere syndromes (2012) · cites this paper as [13]
Most telomere disorders appear in adulthood and result from inherited loss-of-function mutations in TERT or TR.
“Telomere disorders most commonly manifest as adult-onset disease and as a consequence of germline TERT or TR loss-of-function mutations13.”
From The telomere syndromes (2012) · cites this paper as [13]
When IPF, bone marrow failure, and liver cirrhosis occur together, this combination is specific for and strongly predicts an inherited telomere maintenance defect.
“Indeed, the co-occurrence of IPF and bone marrow failure, along with liver cirrhosis, is specific to and highly predictive of a germline telomere maintenance defect13,39,71.”
From The telomere syndromes (2012) · cites this paper as [13]
Even when one disorder's symptoms dominate, affected people often have subclinical disease in other organs at the same time.
“However, affected individuals often have subclinical disease concurrently in other organs, even when symptoms related to a single disorder predominate13,39.”
From The telomere syndromes (2012) · cites this paper as [13]
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Myocyte Turnover in the Aging Human Heart
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RetractedTelomere Length Is a Determinant of Emphysema Susceptibility
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Self-citationShort Telomeres are Sufficient to Cause the Degenerative Defects Associated with Aging
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Self-citationTelomeres and lifestyle factors: Roles in cellular aging.
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A Platform for Rapid Exploration of Aging and Diseases in a Naturally Short-Lived Vertebrate
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Telomerase and idiopathic pulmonary fibrosis
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Telomerase mutations in smokers with severe emphysema
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Short Telomeres Compromise β-Cell Signaling and Survival
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- Authors
- Armanios, M.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Armanios, Mary
- ORCID
- Armanios, Mary
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2009-09-01
- Volume
- 10
- Issue
- 1
- Pages
- 45-61
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- PMC
- PMC2818564
- OpenAlex
- W2109229110
- Cited by
- 317
- References
- 82
- Citations by year
- 2026: 6 · 2025: 11 · 2024: 8 · 2023: 5 · 2022: 8 · 2021: 19 · 2020: 12 · 2019: 11 · 2018: 18 · 2017: 16 · 2016: 22 · 2015: 17 · 2014: 30 · 2013: 26 · 2012: 31
- FWCI
- 3.92
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Doris Duke Charitable Foundation
- National Cancer Institute (K08CA118416)
- Topics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- telomere shortening, telomerase, dyskeratosis congenita, premature aging, idiopathic pulmonary fibrosis, age-related diseases, clinical criteria
- MeSH terms
- Animals, Humans, Pulmonary Fibrosis, Syndrome, Telomere, Telomerase, Dyskeratosis Congenita, Genetic Predisposition to Disease
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