ArticleBritish journal of haematology2023
The distribution and accumulation of the shortest telomeres in telomere biology disorders.
Article in British journal of haematology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Diagnosis and management of adult telomere biology disorders.Haematologica · 2026Review
- Association Between Telomere Shortening and Erythropoietin Resistance in Patients with Chronic Kidney Disease Undergoing Hemodialysis.International journal of molecular sciences · 2025Observational
- Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease.Nature communications · 2024Article
- Telomere length and cancer risk: finding Goldilocks.Biogerontology · 2024Review
- The Impact of Periodontal Disease on Preterm Birth and Preeclampsia.Journal of personalized medicine · 2024Review
- Telomere length is an epigenetic trait - Implications for the use of telomerase-deficient organisms to model human disease.Disease models & mechanisms · 2024Article
- Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease.bioRxiv : the preprint server for biology · 2023Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Individuals with telomere biology disorders (TBDs) have very short telomeres, high risk of bone marrow failure (BMF), and reduced survival. Using data from TBD patients, a mean leukocyte Southern blot telomere length (TL) of 5 kilobases (kb) was estimated as the 'telomere brink' at which human survival is markedly reduced. However, the shortest telomere, not the mean TL, signals replicative senescence. We used the Telomere Shortest Length Assay (TeSLA) to tally TL of all 46 chromosomes in blood-derived DNA and examined its relationship with TBDs. Patients (n = 18) had much shorter mean TL (TeSmTL) (2.54 ± 0.41 kb vs. 4.48 ± 0.52 kb, p < 0.0001) and more telomeres <3 kb than controls (n = 22) (70.43 ± 8.76% vs. 33.05 ± 6.93%, p < 0.0001). The proportion of ultrashort telomeres (<1.6 kb) was also higher in patients than controls (39.29 ± 10.69% vs. 10.40 ± 4.09%, p < 0.0001). TeS <1.6 kb was associated with severe (n = 11) compared with non-severe (n = 7) BMF (p = 0.027). Patients with multi-organ manifestations (n = 10) had more telomeres <1.6 kb than those with one affected organ system (n = 8) (p = 0.029). Findings suggest that TBD clinical manifestations are associated with a disproportionately higher number of haematopoietic cell telomeres reaching a telomere brink, whose length at the single telomere level is yet to be determined.
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