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Biomedicines
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The Role of Telomere and Telomerase in Human Disease—2nd Edition
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The Role of Telomere and Telomerase in Human Disease—2nd Edition

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 9409

Special Issue Editor

Dr. Orit Uziel

E-Mail Website
Guest Editor
1. The Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva 49100, Israel
2. The Gray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel Aviv 69978, Israel
3. Institute of Hematology, Davidoff Cancer Center, Rabin Medical Center, Petah Tikva 49100, Israel
Interests: telomeres; telomerase; cancer research; exosomes; microenvironment
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Telomeres and telomerase are receiving ever-increasing interest from the scientific community. The telomere/telomerase complex is the key element that determines unlimited replicative potential. Telomere shortening occurs at each round of cell division and, accompanied by DNA synthesis, restricts cell proliferation and induces cell senescence and apoptosis in checkpoint-proficient normal somatic cells. Telomerase is a reverse transcriptase that maintains the length of the telomere, endowing cells with the ability to proliferate indefinitely. Thus, the telomere/telomerase interaction plays a key role in the initiation and progression of diseases such as cancer and aging, making this complex an attractive therapeutic target.

Dr. Orit Uziel
Guest Editor

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Keywords

  • telomere
  • telomerase
  • cancer
  • aging

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Related Special Issue

Published Papers (6 papers)

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Research

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14 pages, 2116 KB  
Article
Shelterin Component TPP1 Drives Tumor Progression and Predicts Poor Prognosis in Hepatocellular Carcinoma
by Jung Eun Jang, Hye Seon Kim, Jin Seoub Kim, Jae Mo Han, Hee Sun Cho, Kwon Yong Tak, Ji Won Han, Pil Soo Sung, Si Hyun Bae and Jeong Won Jang
Biomedicines 2026, 14(2), 364; https://doi.org/10.3390/biomedicines14020364 - 4 Feb 2026
Viewed by 777
Abstract
Background/Objectives: Telomere dysfunction and the shelterin complex are implicated in cancer, yet the specific functions and interactions of telomerase and shelterin genes in hepatocellular carcinoma (HCC) tumorigenesis remain poorly understood. This study aims to investigate the clinico-biological functions and collaborative contributions of [...] Read more.
Background/Objectives: Telomere dysfunction and the shelterin complex are implicated in cancer, yet the specific functions and interactions of telomerase and shelterin genes in hepatocellular carcinoma (HCC) tumorigenesis remain poorly understood. This study aims to investigate the clinico-biological functions and collaborative contributions of telomerase and shelterin components in hepatocarcinogenesis. Methods: We analyzed tumor and matched non-tumor tissues from 274 HCC patients who underwent hepatectomy. Telomere-related parameters, including TERT (telomerase reverse transcriptase) expression and telomere length measured by qRT-PCR, telomerase activity assessed by the Telomerase Repeated Amplification Protocol assay, and six shelterin components analyzed by RNA sequencing, were correlated with clinicopathological features. siRNA-mediated knockdown of TPP1 (POT1–TIN2 organizing protein) was performed to evaluate its regulatory effect on TERT expression. Findings were externally validated. Results: TERT and TPP1 were upregulated in tumors with increased telomerase activity and shortened telomere length. Among the shelterin components, TPP1 showed the strongest correlation with TERT, and its expression increased with tumor multiplicity and advancing stage. TPP1 expression also correlated with proliferation-associated genes, consistent with Gene Set Enrichment Analysis suggesting TPP1 involvement in proliferative activity. TPP1 knockdown suppressed TERT protein expression and inhibited HCC cell proliferation, with the strongest anti-proliferative effect observed after dual TERT–TPP1 knockdown. Clinically, high TPP1 expression was associated with significantly earlier HCC recurrence, and co-high expression of TPP1–TERT was linked to significantly worse survival after hepatectomy. Conclusions: The TERT–TPP1 axis enhances proliferative activity and is associated with aggressive features and poor outcomes in HCC. TPP1 represents a potential therapeutic target and prognostic biomarker for HCC. Full article
(This article belongs to the Special Issue The Role of Telomere and Telomerase in Human Disease—2nd Edition)
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15 pages, 3536 KB  
Article
The Telomerase RNA Protein TERP Exerts a New Function in Safeguarding Female Gamete Quality
by Denis A. Nikishin, Maria D. Tkachenko, Elizaveta G. Fofanova, Oleg A. Permyakov, Olga A. Averina and Maria P. Rubtsova
Biomedicines 2025, 13(9), 2166; https://doi.org/10.3390/biomedicines13092166 - 5 Sep 2025
Viewed by 1465
Abstract
Objectives: Oocyte quality is crucial for female fertility, but the underlying molecular mechanisms remain unclear. This study investigates the non-canonical role of the telomerase RNA protein (TERP), whose function in oogenesis is unknown, in safeguarding female gamete quality. Methods: We used gain-of-function (AT) [...] Read more.
Objectives: Oocyte quality is crucial for female fertility, but the underlying molecular mechanisms remain unclear. This study investigates the non-canonical role of the telomerase RNA protein (TERP), whose function in oogenesis is unknown, in safeguarding female gamete quality. Methods: We used gain-of-function (AT) and loss-of-function (D7) mutant mouse lines to assess oocyte quality via morphological and molecular analyses. Key methods included immunofluorescence of meiotic spindles, Western blotting for the autophagy marker LC3B, and qRT-PCR to quantify the perinatal ovarian reserve. Results: Both AT and D7 mutations caused severe meiotic spindle abnormalities, including aberrant morphology and increased size. The D7 mutation, in particular, led to impaired cytoplasmic maturation and reduced autophagy levels in oocytes. Furthermore, loss of TERP function resulted in an abnormally large ovarian reserve in newborn females, which correlated with decreased expression of autophagy and lysosomal markers in the newborn ovary. Conclusions: This study establishes a novel, non-canonical function for TERP as a crucial regulator of oocyte quality. TERP dysregulation compromises meiotic integrity and oocyte maturation by disrupting lysosome-dependent autophagy. Full article
(This article belongs to the Special Issue The Role of Telomere and Telomerase in Human Disease—2nd Edition)
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Review

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19 pages, 1546 KB  
Review
The Impact of Weight Loss Secondary to Bariatric Surgery on Telomere Biology: A Narrative Review
by Saleha Khan, Husna Irfan Thalib, Sariya Khan, Yara Osama Aldawood, Dahlia Mirdad, Abdulrahman Alotaibi, Wisam Jamal, Haneen Alnazzawi, Wed Salah and Abeer Zakariyah
Biomedicines 2026, 14(2), 417; https://doi.org/10.3390/biomedicines14020417 - 12 Feb 2026
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Abstract
The global escalation in chronic obesity and its associated comorbidities has emerged as a substantial public health and economic challenge. This crisis is further compounded by the genomic impact of obesity on telomere length (TL), primarily driven by unchecked oxidative stress. As a [...] Read more.
The global escalation in chronic obesity and its associated comorbidities has emerged as a substantial public health and economic challenge. This crisis is further compounded by the genomic impact of obesity on telomere length (TL), primarily driven by unchecked oxidative stress. As a result, telomeres shorten, leading to the onset of age-related disorders. In response, effective therapeutic interventions, notably bariatric surgery (BS), have demonstrated significant improvements in patient outcomes by reducing morbidity and mortality rates. Contemporary research has expanded on these benefits, investigating the impact of weight reduction on TL. While the majority of studies support the attenuation of telomeric attrition, ongoing debates surrounding methodological limitations and conflicting results underscore the need for further investigation. This narrative review outlines the current research on the mechanisms that influence telomeres, with a focus on the methodologies used to measure TL. Furthermore, we will examine the most recent findings on the effects of weight loss resulting from surgical intervention on telomere biology. This analysis aims to address specific controversies surrounding this topic and provide evidence-based recommendations valuable to the healthcare sector for mitigating obesity, as well as educating patients about the molecular-level effects of weight reduction resulting from surgical procedures, to enable informed consent. Full article
(This article belongs to the Special Issue The Role of Telomere and Telomerase in Human Disease—2nd Edition)
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22 pages, 1176 KB  
Review
Telomeric Ends and Telomerase—Canonical and Non-Canonical Roles in Breast Cancer Tumorigenesis and Therapy Resistance
by Magdalena Kostrzewa, Julia Niedzielska, Wiktoria Mieczkowska, Maja Hoffmann, Julia Rypińska, Adrianna Kowalczyk, Magdalena Stachowiak and Błażej Rubiś
Biomedicines 2026, 14(2), 314; https://doi.org/10.3390/biomedicines14020314 - 30 Jan 2026
Viewed by 844
Abstract
Telomerase is known as a very specific marker of embryonic cells. It is responsible for telomere elongation (bypassing the end-replication problem) and thus supports normal cell division during tissue and organ development. But it is generally absent or very low in most normal [...] Read more.
Telomerase is known as a very specific marker of embryonic cells. It is responsible for telomere elongation (bypassing the end-replication problem) and thus supports normal cell division during tissue and organ development. But it is generally absent or very low in most normal adult somatic cells. However, its overexpression in adulthood (due to secondary expression and activity restoration) is commonly known to be associated with cancer. Apart from its canonical function (associated with telomere length restoration), it also carries out various other roles. Its non-canonical activity covers mitochondrial and epigenetic processes. Consequently, it contributes to the cell response to stress and chemotherapeutic drug treatment. A more detailed understanding of these phenomena offers the opportunity to identify new pathways and targets that may serve as critical factors in breast cancer diagnostics and therapy. In this article, we summarize the latest reports on the discovery of telomerase’s nature, including its canonical and non-canonical roles. The manuscript highlights how these mechanisms contribute to tumorigenesis, therapy resistance, and the survival of cancer cells. Understanding these multifaceted mechanisms behind hTERT’s role in (breast) cancer progression and therapy resistance is crucial for developing more effective therapeutic strategies. Full article
(This article belongs to the Special Issue The Role of Telomere and Telomerase in Human Disease—2nd Edition)
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36 pages, 1096 KB  
Review
Telomere Length Abnormality: Investigating Approaches and Correlations with Cancer, Bone Marrow Failure and Hematological Malignancies
by Corrado Tarella, Dario Ferrero, Maria Beatriz Herrera Sanchez, Alessia Rita Canestrale, Sharad Kholia, Lorenzo Silengo, Enrico Derenzini and Irene Ricca
Biomedicines 2025, 13(12), 3009; https://doi.org/10.3390/biomedicines13123009 - 8 Dec 2025
Viewed by 1561
Abstract
Proper telomere maintenance is crucial for ensuring healthy cellular function. Telomeres have a tendency to reduce in length with cellular aging. Moreover several factors may promote telomere attrition. Other conditions, primarily due to genetic and inherited origins, can be characterized by unusually long [...] Read more.
Proper telomere maintenance is crucial for ensuring healthy cellular function. Telomeres have a tendency to reduce in length with cellular aging. Moreover several factors may promote telomere attrition. Other conditions, primarily due to genetic and inherited origins, can be characterized by unusually long telomeres. Both shortening and elongation of telomere length (TL) may lead to increased risk of cancer occurrence or cancer progression. Additionally, some hematopoietic dysfunctions may also be associated with telomere abnormalities. This review is aimed to describe and discuss main aspects of TL, in relation to carcinogenesis. The initial section describes main current methods for TL assessment, since the accurate and reliable TL measurements is a crucial issue in TL research. The various studies describing the association between TL and cancer risk are then reported and critically illustrated, with special interest on TL shortening in hematological malignancies, as well as in some peculiar non-malignant dysfunctions. Hence, a systematic analysis of the broad contribution of TL to cancer development is extensively appraised. Full article
(This article belongs to the Special Issue The Role of Telomere and Telomerase in Human Disease—2nd Edition)
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19 pages, 1426 KB  
Review
Telomeres, Telomerase, and Curcumin: A New Frontier in Cancer Therapy: A Narrative Review
by Hind Muteb Albadrani and Abeer Fouad Zakariyah
Biomedicines 2025, 13(11), 2721; https://doi.org/10.3390/biomedicines13112721 - 6 Nov 2025
Cited by 1 | Viewed by 3228
Abstract
Telomeres, which serve as protective ends on chromosomes, and telomerase, the enzyme that preserves telomere length, play crucial roles in ensuring genomic stability and delaying cellular aging. Dysregulation of these proteins is a key characteristic of cancer development. This review aimed to explore [...] Read more.
Telomeres, which serve as protective ends on chromosomes, and telomerase, the enzyme that preserves telomere length, play crucial roles in ensuring genomic stability and delaying cellular aging. Dysregulation of these proteins is a key characteristic of cancer development. This review aimed to explore the complex processes involved in telomere and telomerase dysregulation in cancer and evaluate the therapeutic potential of curcumin. Curcumin has attracted significant interest due to its anticancer, antioxidant, and anti-inflammatory properties. Curcumin modulates telomere dynamics and inhibits telomerase activity, leading to cancer cell senescence and telomere shortening. Curcumin downregulates human telomerase reverse transcriptase expression and reduces telomerase activity in various cancer cell lines. Despite its potential, its clinical use is restricted by its poor water solubility and limited bioavailability. This review underscores the critical role of telomere/telomerase dysregulation in cancer and highlights curcumin as a promising modulator of these pathways, thereby offering potential novel strategies for cancer treatment. This review integrates the literature published up to September 2025 to ensure the inclusion of the most recent advances in curcumin-related telomerase modulation. Full article
(This article belongs to the Special Issue The Role of Telomere and Telomerase in Human Disease—2nd Edition)
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