Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
Open accessAbstract
BACKGROUND: Mutations in TERC, the gene for the RNA component of telomerase, cause short telomeres in congenital aplastic anemia and in some cases of apparently acquired hematopoietic failure. We investigated whether mutations in genes for other components of telomerase also occur in aplastic anemia. METHODS: We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282 control subjects for sequence variations in the TERT, DKC1, NHP2, and NOP10 genes; an additional 81 patients and 246 controls were examined for genetic variations in TERT. Telomere lengths and the telomerase activity of peripheral-blood leukocytes were evaluated in patients carrying genetic variants. Identified mutations were transfected into telomerase-deficient cell lines to examine their effects and their mechanism of action on telomerase function. RESULTS: Five heterozygous, nonsynonymous mutations (which cause an amino acid change in the corresponding protein) were identified in TERT, the gene for the telomerase reverse transcriptase catalytic enzyme, among seven unrelated patients. Leukocytes from these patients had short telomeres and low telomerase enzymatic activity. In three of these patients, the mutation was also detected in buccal mucosa cells. Family members carrying the mutations also had short telomeres and reduced telomerase activity but no evident hematologic abnormality. The results of coexpression of wild-type TERT and TERT with aplastic anemia-associated mutations in a telomerase-deficient cell line suggested that haploinsufficiency was the mechanism of telomere shortening due to TERT mutations. CONCLUSIONS: Heterozygous mutations in the TERT gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure.
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Patients with aplastic anaemia and shorter telomeres at diagnosis show more severe disease, poorer response to treatment, increased risk of relapse and MDS, and lower survival.
“Patients with shorter telomeres at diagnosis show a more severe disease, a poorer response to treatments, an increased risk of relapse and development of myelodysplastic syndrome (MDS; see below) and a lower survival rate75,80,81.”
From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [75]
The introductory passage reports short telomeres in patients with acquired aplastic anemia, especially those who do not respond to immunosuppressive therapy; the discussion also notes poor response among patients with TERT mutations. The paper does not establish that telomere length at diagnosis predicts disease severity, relapse, development of MDS, or survival. Its treatment-response evidence is narrower than the full claim. (LLM, conf=0.86)
Experimental — accuracy not yet measuredAround 9% of patients with acquired aplastic anaemia carry mutations in TERC, TERT and DKC1, which are also mutated in inherited aplastic anaemia such as dyskeratosis congenita.
“Around 9% of patients with acquired aplastic anaemia carry mutations in the telomerase components TERC, TERT and DKC1, which are also mutated in inherited aplastic anaemia, as in dyskeratosis congenita74,75.”
From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [75]
The Mutations section (page not provided) reports TERC mutations in 5 of 205 patients and TERT mutations in 7 of the remaining 200—12 of 205 overall, or about 6%, rather than 9%. It explicitly reports no DKC1 mutations in the patients studied. The background section (page not provided) does link DKC1 and TERC mutations to dyskeratosis congenita. (LLM, conf=0.89)
Experimental — accuracy not yet measuredAbout one-third of patients with aplastic anaemia show short telomeres in peripheral blood, suggesting a causative link between aplastic anaemia pathology and telomere dysfunction.
“About one-third of patients with aplastic anaemia show short telomeres in peripheral blood, which suggests that there is a causative link between aplastic anaemia pathology and telomere dysfunction75,76,79.”
From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [75]
The paper’s introductory passage (indexed under Abstract; page unavailable) says that approximately one third of patients with *acquired* aplastic anemia have short telomeres in leukocytes, especially those who do not respond to immunosuppressive therapy. Its conclusion says TERT mutations impair telomerase activity and may be risk factors for marrow failure, supporting the suggested link. The citing sentence omits the restriction to acquired aplastic anemia and thus states the one-third figure for a broader population. (LLM, conf=0.84)
Experimental — accuracy not yet measuredBecause losing function of a single TERT or TR allele is enough to impair telomere maintenance, these mutations follow autosomal-dominant inheritance.
“They manifest in an autosomal-dominant inheritance pattern because complete or partial loss-of-function of one allele is sufficient to perturb telomere maintenance38,39,41.”
From The telomere syndromes (2012) · cites this paper as [41]
Between 3% and 5% of aplastic anaemia patients have mutations in TERT or TR.
“In addition, 3–5% of aplastic anaemia patients carry mutant TERT and TR genes41,72,73.”
From The telomere syndromes (2012) · cites this paper as [41]
In humans and mice, short telomeres cause quantitative and qualitative defects in hematopoietic stem cells, manifesting as stem cell exhaustion.
“In both humans and mice, there is clear evidence that short telomeres cause quantitative and qualitative defects in HSCs, which manifest as stem cell exhaustion36,41,71,114–117 (Fig. 4).”
From The telomere syndromes (2012) · cites this paper as [41]
None of the seven mutations were found in 94 locally collected, ethnically matched individuals, nor in 200 patients with aplastic anemia or a multiethnic panel of 528 individuals sequenced as controls.
“None of the seven mutations were found in 94 locally collected, ethnically matched individuals, nor were they detected in 200 patients with aplastic anemia or a multiethnic panel of 528 individuals sequenced as controls (9).”
From Adult-onset pulmonary fibrosis caused by mutations in telomerase (2007) · cites this paper as [9]
Individuals with TERT or TERC mutations have none of the physical manifestations of DKC and were all ascertained by the lung fibrosis phenotype, distinguishing them from previously described patients with mutations in these genes.
“The individuals with TERT or TERC mutations have none of the physical manifestations of DKC and were all ascertained by the lung fibrosis phenotype, distinguishing them from previously described patients with mutations in these genes (6, 9, 10, 17).”
From Adult-onset pulmonary fibrosis caused by mutations in telomerase (2007) · cites this paper as [9]
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 [61]
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 [61]
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Self-citation
- Authors
- Yamaguchi, H., Calado, R. T., Ly, H., Kajigaya, S., Baerlocher, G. M., Chanock, S. J., Lansdorp, P. M., & Young, N. S.
- Affiliations
- National Institutes of Health (US)
- National Heart, Lung, and Blood Institute (US)
- Emory University (US)
- Terry Fox Research Institute (CA)
- University of British Columbia (CA)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2005-04-07
- Volume
- 352
- Issue
- 14
- Pages
- 1413-1424
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2037236933
- Cited by
- 723
- References
- 52
- Citations by year
- 2026: 14 · 2025: 12 · 2024: 27 · 2023: 23 · 2022: 26 · 2021: 21 · 2020: 27 · 2019: 28 · 2018: 28 · 2017: 39 · 2016: 23 · 2015: 37 · 2014: 49 · 2013: 44 · 2012: 32
- FWCI
- 30.18
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Keywords
- TERT mutation, telomerase reverse transcriptase, aplastic anemia, telomere shortening, haploinsufficiency, telomerase activity, DKC1, NHP2, NOP10, hematopoietic failure, non-synonymous mutations, leukocytes
- MeSH terms
- Adult, Aged, Anemia, Aplastic, Bone Marrow Cells, DNA Mutational Analysis, DNA-Binding Proteins, Female, Heterozygote, Humans, Male, Middle Aged, Mutation, Risk Factors, RNA, Gene Expression, Case-Control Studies, Polymerase Chain Reaction, Telomere, Telomerase
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