The molecular mechanisms of telomerase reverse transcriptase ( upregulation in breast cancer (BC) are complex. We compared genetic variability within and telomere length with the clinical data of patients with BC. Additionally, we assessed the expression of the , , and genes in BC patients and in BC organoids (3D cell cultures obtained from breast cancer tissues). We observed the same correlation in the blood of BC patients and in BC organoids between the expression of and . Only in BC patients was a correlation found between the expression of the and genes and between and . We found associations between genotypes (rs2735940 and rs10069690) and expression and telomere length. BC patients with the genotype rs2735940 have a shorter telomere length, but patients with allele rs10069690 have a longer telomere length. BC patients with a short allele VNTR-MNS16A showed higher expression of the and had a longer telomere. Our results bring new insight into the regulation of , , and gene expression related to genetic variability and telomere length. Our study also showed for the first time a similar relationship in the expression of the above genes in BC patients and in BC organoids. These findings suggest that genetic variability, expression and telomere length might be useful biomarkers for BC, but their prognostic value may vary depending on the clinical parameters of BC patients and tumor aggressiveness.
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http://dx.doi.org/10.3390/ijms23095164 | DOI Listing |
Transplant Proc
January 2025
Respiratory Medicine Department, Lung Transplant Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.
Shortened telomere length (STL) is associated with increased rates of interstitial lung diseases, malignancy, hematological disorders, and immunosuppressive treatment toxicities. In this single-center retrospective study, we aim to determine whether patients with interstitial lung diseases who have STL, as determined by quantitative PCR of buccal epithelial cells, exhibit worse post-transplant outcomes compared to recipients with normal telomere length. In our series of 26 patients, STL was associated with a higher incidence of chronic kidney disease following lung transplantation (100% vs 55%, P = .
View Article and Find Full Text PDFOral Oncol
January 2025
Department of Medical, Surgical and Health Sciences, University of Trieste, 34149 Trieste, Italy.
Head and neck squamous cell carcinomas (HNSCCs) represent a heterogeneous group of malignancies with multifactorial aetiologies. High-risk human papillomavirus (hrHPV) infections, particularly HPV16, and the dysregulation of telomerase activity, specifically through its catalytic subunit, telomerase reverse transcriptase (TERT) are among the key contributors to HNSCC development and progression. HPV promotes oncogenesis via the E6 and E7 oncoproteins, which inactivate tumour suppressors TP53 and RB1, leading to unchecked cellular proliferation.
View Article and Find Full Text PDFMol Ecol
January 2025
Department of Biology, Colorado State University, Fort Collins, Colorado, USA.
Genomic projections of (mal)adaptation under future climate change, known as genomic offset, faces limited application due to challenges in validating model predictions. Individuals inhabiting regions with high genomic offset are expected to experience increased levels of physiological stress as a result of climate change, but documenting such stress can be challenging in systems where experimental manipulations are not possible. One increasingly common method for documenting physiological costs associated with stress in individuals is to measure the relative length of telomeres-the repetitive regions on the caps of chromosomes that are known to shorten at faster rates in more adverse conditions.
View Article and Find Full Text PDFSci Adv
January 2025
Department of Biochemistry and Molecular Biology, Tulane University School of Medicine, Louisiana Cancer Research Center, 1700 Tulane Avenue, New Orleans, LA 70112, USA.
Unlike most species that use telomerase for telomere maintenance, many dipterans, including , rely on three telomere-specific retrotransposons (TRs)-, , and -to form tandem repeats at chromosome ends. Although TR transcription is crucial in their life cycle, its regulation remains poorly understood. This study identifies the Mediator complex, E2F1-Dp, and Scalloped/dTEAD as key regulators of TR transcription.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
West China Hospital of Sichuan University, Chengdu, China.
Background: Idiopathic normal pressure hydrocephalus (iNPH) is highly prevalent among elderly individuals, and there is a strong correlation between telomere length and biological aging. However, there is limited evidence to elucidate the relationship between telomere length and iNPH. This study aimed to investigate the associations between telomere length and iNPH using the Mendelian randomization (MR) method.
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