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PubMed2026

Improvement the accuracy and reproducibility of telomere length measurement utilizing qPCR.

Telomere length serves as a well-established molecular biomarker for evaluating aging and age-associated diseases. Among various methods, quantitative PCR for telomere length detection is convenient, rapid, cost-effective, and capable of high-throughput analysis in large epidemiological cohorts. However, numerous studies have indicated that issues related to differences in DNA quality caused by DNA extraction process significantly affect the accuracy and reproducibility of qPCR-based telomere length quantification. Initially, we established a model of DNA integrity variation, by utilizing nucleic acid endonucleases of serial activity units to cleave genomic DNA, generating DNA with varying degrees of degradation. The integrity of DNA templates decreases, the reduction of long fragments and the increase of short fragments in the mixed telomere products are the causes of the disruption in Ct values. Moreover, compared with longer reference gene amplicons, the short-segment internal gene reference can reduce the impact of genomic integrity on its amplification. Subsequently, we utilized additional gel excision purification to reduce degradation products. It was found that gel excision processing provides the best stability for telomere length detection with the lowest coefficient of variation. Additionally, the introduce of another calibrator sample, which is used for to adjust the T/S value of the test sample, narrows the deviation between qPCR-derived telomere length and gold-standard Terminal Restriction Fragment (TRF) measurements. Collectively, these results reveal that gel excision purification supports stable telomere detection. Calculating the correction coefficient incorporating the short internal reference and calibrator minimizes measurement deviations relative to sample TRF values.

Telomere↗

PubMed2026

Telomere length in patients with non-functional adrenal incidentalomas.

Telomeres maintain genomic integrity during cell replication by preventing chromosomal fusions. Beside genetic influences, telomere length is affected by environmental factors such as oxidative stress and inflammation. These mechanisms also contribute to metabolic syndrome components linked to cellular aging. We aim to evaluate whether telomere length is shortened in patients with non-functional adrenal incidentaloma (NFAI) compared to the control group. This study was designed as a prospective, single-center study. The total of 88 participants included were 44 patients aged between 40 and 60 years with NFAI in our endocrinology clinic and 44 control subjects. An Absolute Human Telomere Lengths Quantification qPCR Assay kit (Nucleotestbio, Budapest, Hungary) was used for analyses. There was no significant difference between the NFAI and control groups regarding age and sex distribution. Telomere length was significantly shorter in the NFAI group (NFAI group: 3.680 ± 1.970 kb; control group: 4.469 ± 1.672 kb; p = 0.046). While no significant difference was found in telomere lengths in subgroup analyses, patients with basal adrenocorticotropic hormone (ACTH) levels <15 pg/mL had significantly shorter telomeres than those with basal ACTH levels ≥15 pg/mL (p = 0.034). A strong positive correlation was observed only between telomere length and ACTH level (p = 0.001). This study demonstrated that telomere length is significantly shortened in NFAI patients. Here, we propose that the underlying cause of telomere length shortening in the NFAI group may be related to increased cardiovascular risk and an elevated inflammatory state, even in the presence of cortisol levels within the normal range.

Humans↗

PubMed2025

Causality between telomere length and breast diseases: a two-sample bidirectional Mendelian randomization study.

BACKGROUND: The relationship between telomere length and breast diseases remains unclear, with conflicting evidence for breast cancer. Using an innovative genetic approach, we were the first to comprehensively assess their bidirectional causal relationship. METHODS: Telomere length, breast cancer, benign neoplasm of breast, and breast inflammation were extracted from the genome-wide Association study (GWAS) database as the basis for large-scale population studies. The interaction of telomere length and breast diseases as exposure and outcome factors was analyzed by Mendelian randomization (MR). RESULTS: When telomere length was used as an exposure factor and breast diseases as an outcome, the P value of MR was less than 0.05. Breast cancer (odds ratio (OR) = 1.130, 95% confidence interval (CI) = 1.047-1.219, P = 0.0016), benign neoplasm of breast (OR = 1.002, 95%CI = 1.001-1.004, P = 0.0007) and breast inflammation (OR = 1.487, 95%CI = 1.008-2.191, P = 0.0453). When breast diseases were taken as an exposure factor and telomere length was taken as an outcome, the P value of MR between breast cancer, benign neoplasm of breast, and telomere length was greater than 0.05, and breast inflammation could not be calculated by MR. CONCLUSION: Telomere length is a risk factor for breast diseases, and longer telomeres increase the risk of breast cancer, benign neoplasm of breast, and breast inflammation. However, the reverse study showed no causal association between breast cancer, benign neoplasm of breast and telomere length, and the causal association between breast inflammation and telomere length was not clear. Moreover, further studies are needed to validate our findings in non-European populations.

Mendelian randomization↗

PubMed2025

Epitalon increases telomere length in human cell lines through telomerase upregulation or ALT activity.

Epitalon, a naturally occurring tetrapeptide, is known for its anti-aging effects on mammalian cells. This happens through the induction of telomerase enzyme activity, resulting in the extension of telomere length. A strong link exists between telomere length and aging-related diseases. Therefore, telomeres are considered to be one of the biomarkers of aging, and increasing or maintaining telomere length may contribute to healthy aging and longevity. Epitalon has been the subject of several anti-aging studies however, quantitative data on the biomolecular pathway leading to telomere length increase, hTERT mRNA expression, telomerase enzyme activity, and ALT activation have not been extensively studied in different cell types. In this article, the breast cancer cell lines 21NT, BT474, and normal epithelial and fibroblast cells were treated with epitalon then DNA, RNA, and proteins were extracted. qPCR and Immunofluorescence analysis demonstrated dose-dependent telomere length extension in normal cells through hTERT and telomerase upregulation. In cancer cells, significant telomere length extension also occurred through ALT (Alternative Lengthening of Telomeres) activation. Only a minor increase in ALT activity was observed in Normal cells, thereby showing that it was specific to cancer cells. Our data suggests that epitalon can extend telomere length in normal healthy mammalian cells through the upregulation of hTERT mRNA expression and telomerase enzyme activity.

Humans↗

PubMed2026

Investigating telomere length and hTERT-MNS16A VNTR polymorphism in Bipolar disorder: Insights into clinical features.

OBJECTIVE: To compare leukocyte telomere length (LTL; T/S ratio) and hTERT-MNS16A VNTR polymorphism between patients with bipolar disorder (BD) and healthy controls, and to examine their associations with clinical features in BD. METHODS: A total of 179 participants (100 BD patients, 79 healthy controls) were enrolled. Relative LTL was assessed by qPCR-based T/S ratio; hTERT-MNS16A VNTR genotyping by PCR and gel electrophoresis. Clinical variables including episode frequency, illness duration, age at onset, symptom severity scales, first episode polarity, and family history of mood disorder were evaluated. RESULTS: No significant differences were observed between BD patients and healthy controls in T/S ratio or hTERT-MNS16A VNTR genotype distributions (all p > 0.05). Within the BD group, S allele carriers (L/S or S/S) had significantly more depressive episodes than L/L homozygotes (1.45 ± 2.58 vs. 0.61 ± 1.52; p = .040). Significant inverse correlations were identified between T/S ratio and depressive episode count (ρ = -0.220, p = .028) and total mood episodes (ρ = -0.207, p = .039). Multivariable negative binomial regression revealed four independent predictors of depressive episode frequency: lower T/S ratio (p = 0.005), S allele carriage (L/S or S/S genotypes) (p = 0.001), first depressive episode polarity (p < 0.001), and family history of mood disorder (p = 0.035). CONCLUSION: Although LTL and hTERT-MNS16A VNTR genotype did not differ between BD patients and healthy controls, shorter telomere length and S allele carriage were independently associated with higher depressive episode frequency within the BD group, implicating telomere biology and hTERT genetic variation in the biological substrate of depressive illness burden.

Humans↗

PubMed2024

Genetic polymorphisms affecting telomere length and their association with cardiovascular disease in the Heinz-Nixdorf-Recall study.

Short telomeres are associated with cardiovascular disease (CVD). We aimed to investigate, if genetically determined telomere-length effects CVD-risk in the Heinz-Nixdorf-Recall study (HNRS) population. We selected 14 single-nucleotide polymorphisms (SNPs) associated with telomere-length (p<10-8) from the literature and after exclusion 9 SNPs were included in the analyses. Additionally, a genetic risk score (GRS) using these 9 SNPs was calculated. Incident CVD was defined as fatal and non-fatal myocardial infarction, stroke, and coronary death. We included 3874 HNRS participants with available genetic data and had no known history of CVD at baseline. Cox proportional-hazards regression was used to test the association between the SNPs/GRS and incident CVD-risk adjusting for common CVD risk-factors. The analyses were further stratified by CVD risk-factors. During follow-up (12.1±4.31 years), 466 participants experienced CVD-events. No association between SNPs/GRS and CVD was observed in the adjusted analyses. However, the GRS, rs10936599, rs2487999 and rs8105767 increase the CVD-risk in current smoker. Few SNPs (rs10936599, rs2487999, and rs7675998) showed an increased CVD-risk, whereas rs10936599, rs677228 and rs4387287 a decreased CVD-risk, in further strata. The results of our study suggest different effects of SNPs/GRS on CVD-risk depending on the CVD risk-factor strata, highlighting the importance of stratified analyses in CVD risk-factors.

Humans↗

PubMed2025

Effect of Physical Exercise on Telomere Length: Umbrella Review and Meta-Analysis.

BACKGROUND: Telomere length (TL) is a marker of cellular health and aging. Physical exercise has been associated with longer telomeres and, therefore, healthier aging. However, results supporting such effects vary across studies. Our aim was to synthesize existing evidence on the effect of different modalities and durations of physical exercise on TL. OBJECTIVE: The aim of this study was to explore the needs and expectations of individuals with physical disabilities and their interventionists for the use of a virtual reality physical activity platform in a community organization. METHODS: We performed an umbrella review and meta-analysis. Data sources included PubMed, Embase, Web of Science, Cochrane Library, and Scopus. We selected systematic reviews and meta-analyses of randomized and nonrandomized controlled clinical trials evaluating the effect of physical exercise on TL. RESULTS: Our literature search retrieved 12 eligible systematic reviews, 5 of which included meta-analyses. We identified 22 distinct primary studies to estimate the overall effect size of physical exercise on TL. The overall effect size was 0.28 (95% CI 0.118-0.439), with a heterogeneity test value Q of 43.08 (P=.003) and I² coefficient of 51%. The number of weeks of intervention explained part of this heterogeneity (Q_B=8.25; P=.004), with higher effect sizes found in studies with an intervention of less than 30 weeks. Exercise modality explained additional heterogeneity within this subgroup (Q_B=10.28, P=.02). The effect sizes were small for aerobic exercise and endurance training, and moderate for high-intensity interval training. CONCLUSIONS: Our umbrella review and meta-analysis detected a small-moderate positive effect of physical exercise on TL, which seems to be influenced by the duration and type of physical exercise. High quality studies looking into the impact of standardized, evidence-based physical exercise programs on TL are still warranted.

Humans↗

PubMed2026

Genetically Proxied Leukocyte Telomere Length and Epigenetic Age Acceleration in Relation to Healthspan: A Mendelian Randomization Study.

BACKGROUND: Leukocyte telomere length (LTL) and epigenetic age acceleration (EAA) are widely studied biomarkers of biological aging, but their potential roles in healthspan remain unclear. We evaluated whether genetically proxied LTL and EAA show evidence of potential effects on healthspan. METHODS: We conducted a two-sample Mendelian randomization study. Genetic instruments for LTL and four EAA biomarkers were obtained from published genome-wide association studies, including up to 472,174 individuals for LTL and approximately 35,000 individuals for each EAA biomarker. Summary statistics for healthspan, defined as age at first diagnosis of any of eight major chronic conditions or death, were derived from 300,447 unrelated European-ancestry participants in the UK Biobank. We used inverse-variance-weighted (IVW) models for the main analysis, with complementary MR estimators and sensitivity analyses to evaluate consistency, pleiotropy, instrument heterogeneity, and robustness. RESULTS: Genetically proxied longer LTL was associated with extended healthspan (IVW β = 0.106; 95% CI: 0.054-0.158; p = 6.9 × 10-5). The association was robust across multiple sensitivity analyses. In contrast, the four genetically proxied EAA biomarkers did not show consistent MR evidence of an association with healthspan. CONCLUSIONS: These findings provide genetic evidence consistent with a potential role of LTL in healthspan, while providing little support for comparable associations involving the genetically proxied components of the evaluated EAA biomarkers. The findings do not exclude potential associations with environmentally or physiologically acquired EAA.

Mendelian randomization↗

PubMed2026

Prospective association between leukocyte telomere length and mortality: findings from the Black Women's Experiences Living with Lupus (BeWELL) Study.

Leukocyte telomere length (LTL) is a biomarker of replicative history of cells and has been posited to be an indicator of biological aging. LTL may yield insight into immunomodulatory disorders, including systemic lupus erythematosus (SLE), an immune-mediated inflammatory disease that disproportionately affects Black/African American women. This study examined the association between LTL and mortality among 422 Black/African American women in the Black Women's Experiences Living with Lupus (BeWELL) Study. Participants were recruited from metropolitan Atlanta, Georgia, between April 2015 and May 2017 and followed for a mean of 1.98 years (SD = 0.38). LTL was measured as the telomere-to-single copy gene ratio (T/S). Mortality was assessed prospectively. Cox proportional hazards regression models adjusting for sociodemographic, health, and disease characteristics were specified. A total of 19 participants died during the follow-up period. Adjusting for demographic, socioeconomic, and health-related covariates, longer LTL was associated with lower risk of mortality (hazard ratio = 0.13, 95% confidence interval = 0.02, 0.83, P = 0.03). This study is the first to report an association between LTL and subsequent mortality among Black/African American women with SLE. Findings may be particularly relevant for this population, which has been shown to experience severe disease consequences. Future research may further explore LTL in mechanistic studies of SLE and assess the utility of LTL for monitoring disease progression and outcomes.

Humans↗

PubMed2024

Effects of particulate air pollution on BPDE-DNA adducts, telomere length, and mitochondrial DNA copy number in human exhaled breath condensate and BEAS-2B cells.

Traffic-related particulate matter (PM) and polycyclic aromatic hydrocarbons (PAHs) have been linked to respiratory diseases and cancer risk in humans. Genomic damage, including benzo[a]pyrene diolepoxide (BPDE)-DNA adducts as well as alterations in telomere length (TL) and mitochondrial DNA copy number (mtDNA-CN) are associated with respiratory diseases. This study aimed to investigate the association between exposure to traffic-related particulate pollutants and genomic damage in exhaled breath condensate (EBC) in human subjects and a bronchial epithelial cell line (BEAS-2B). Among the 60 healthy recruited subjects, residents living in high-traffic-congested areas were exposed to higher concentrations of PM2.5 (1.66-fold, p < 0.01), UFPs (1.79-fold, p < 0.01), PM2.5-PAHs (1.50-fold, p < 0.01), and UFPs-PAHs (1.35-fold, p < 0.05), than those in low-traffic-congested areas. In line with increased exposure to particulate air pollution, the high-traffic-exposed group had significantly increased BPDE-DNA adducts (1.40-fold, p < 0.05), TL shortening (1.24-fold, p < 0.05), and lower mtDNA-CN (1.38-fold, p < 0.05) in EBC. The observations in the human study linking exposure to PM2.5, UFPs, PM2.5-PAHs, and UFPs-PAHs with the aforementioned biological effects were confirmed by an in vitro cell-based study, in which BEAS-2B cells were treated with diesel exhaust particulate matter (DEP) containing fine and ultrafine PM and PAHs. Increased BPDE-DNA adducts levels, shortened TL, and decreased mtDNA-CN were also found in treated BEAS-2B cells. The shortened TL and decreased mtDNA-CN were in part mediated by decreased transcript levels of hTERT, and SIRT1, which are involved in telomerase activity and mitochondrial biogenesis, respectively. These results suggest that exposure to traffic-related particulate pollutants can cause genomic instability in respiratory cells, which may increase the health risk of respiratory diseases and the development of cancer.

Humans↗

PubMed2026

Telomere Length Dynamics as a Biomarker of Individual Radiation Sensitivity and Pneumonitis in Lung Cancer Patients Receiving Thoracic Radiation Therapy.

PURPOSE: Telomere shortening is a biomarker for genome instability and aging, and the vulnerability of telomeric DNA to oxidative damage suggests its potential role in mediating radiation therapy (RT) side effects. This study evaluates telomere length (TL) as a biomarker for clinical radiosensitivity and adverse outcomes in thoracic RT-treated patients. METHODS AND MATERIALS: Patients with cancer receiving thoracic RT (2019-2022) were prospectively enrolled at Brigham and Women's Hospital, Boston, Massachusetts. Peripheral blood mononuclear cells (PBMCs) were collected pre-RT and ≤12 months post-RT. TL was measured using quantitative PCR, and multipathway DNA repair capacity (DRC) was simultaneously assessed by fluorescence multiplex host cell reactivation assays. RT outcomes included patient-reported quality of life and radiation pneumonitis. Linear mixed-effects models were used to analyze TL dynamics; risk prediction models for RT outcomes were evaluated using area under the curve. RESULTS: Pre-RT TL decreased with age (0.44% lower per year; 95% CI, 0.12%-0.77%) and advanced cancer stage (6.87% lower per step increase of stage; 95% CI, 3.45%-10.16%). Radical RT was associated with telomere shortening (3.7% lower; 95% CI, 0.27%-7.07%) in PBMCs, detectable ≤6 months post-RT. Pre-RT TL strongly predicted post-RT changes, and TL dynamics outperformed static measures in predicting symptom burden and radiation pneumonitis. Positive associations were observed between TL and DRC against oxidative lesions, with A:8-oxoG repair capacity mediating 12.8% of RT-induced TL shortening. CONCLUSIONS: Lymphocyte TL can reflect individual radiosensitivity and interact with oxidative damage repair. Longitudinal assessment of TL dynamics provides additional predictive value for adverse RT outcomes compared with static measures. Further studies are needed to fully determine the clinical utility of TL.

Humans↗

PubMed2026

Telomere length and clonal hematopoiesis interact to influence outcomes in hematopoietic stem cell transplantation.

Clonal hematopoiesis (CH), the clonal expansion of a hematopoietic stem cell and its progeny driven by somatic mutations, has been associated with inferior survival outcomes among recipients of autologous stem cell transplants (ASCT). Leukocyte telomere length (LTL) has a complex but well-documented interaction with CH, but the impact of this interaction on stem cell transplantation has not been adequately examined. We measured LTL in graft cell DNA from 452 patients undergoing ASCT for myeloma, for whom targeted DNA sequencing for CH driver gene mutations was available. We interrogated clinical and longitudinal large-scale laboratory data for these patients to understand the impact of graft LTL on progression-free survival (PFS) and overall survival after transplantation, as well as blood count indices and their trajectories. In multivariate analyses, longer LTL was associated with increased PFS among patients without CH. However, this protective association was not seen in patients with CH. We also report that among patients with CH, longer LTL was associated with an increased red cell distribution width before myeloablative chemotherapy and after ASCT. Collectively, these data reveal hitherto undescribed interactions between LTL, CH, and ASCT outcomes.

Humans↗

PubMed2026

Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure.

Telomere Biology Disorders (TBDs) are a genetically heterogeneous and often under-recognized cause of Bone Marrow Failure Syndromes (BMFS), driven by defective telomere maintenance and progressive telomere attrition. We performed an integrated genomic, telomeric and computational analysis in 118 subjects presenting clinical features of BMFS to delineate the contribution of Telomere Regulatory Genes (TRGs) variants to disease pathogenesis. Whole exome sequencing (WES) identified pathogenic (18.18%), likely pathogenic (27.27%) and rare variants of uncertain significance (54.54%) in 27 subjects (22.9%) across five TRGs: RTEL1, TERT, TINF2, NOP10, and WRAP53. Telomere Length (TL) assessment revealed significant telomere shortening in TRG variant-positive subjects compared with age-matched controls, with the most profound attrition observed in individuals harboring de novo TINF2 gene variants. RTEL1 emerged as the most frequently affected gene, with recurrent clustering of variants within its C-terminal regulatory region. A familial NOP10 variant, Asp12His, segregated with cutaneous pigmentation and hematological abnormalities consistent with the established role of NOP10 in dyskeratosis congenita, further broadening the known mutational spectrum of the gene. Structure-guided in-silico analyses predicted that both novel and recurrent variants disrupt protein stability, telomerase assembly or trafficking and shelterin complex integrity. Reduced TERT expression and a significant inverse correlation between telomere length and clinical severity further underscored the functional impact of TRG defects. Collectively, this study provides the first comprehensive characterization of TRG variants in the Indian BMFS cohort and highlights the utility of integrating genomic sequencing, telomere length measurement and computational modeling to improve diagnostic precision, variant interpretation and clinical stratification in TBDs.

Journal Article↗

PubMed2026

Parental senescence effects in a short-lived fish.

Senescence is age-related decline that may carry over to subsequent generations. Advanced parental age can both improve or reduce offspring fitness, however. Identification of mechanisms of parental effects senescence thus proved challenging so far. We investigated the effects of old parental age on offspring performance in a laboratory short-lived fish, Nothobranchius furzeri (Cyprinodontiformes). We followed age-related changes in parents and then focused on the effect of parental age on key offspring life-history traits (embryonic survival, hatching rate and juvenile growth). We employed telomere length as a senescence marker and a potential route for transmitting senescence effects from parents to the offspring. As parents aged, their body condition, reproductive output, and telomere length declined. Offspring of older parents showed lower survival and hatching rate. In contrast, old parental age did not compromise juvenile growth and telomere length of the successfully hatched offspring. This, among other things, resulted in decoupling of parent-offspring telomere length. Our study highlights the sensitivity of the early life-stages to old parental age in contrast to offspring post-hatching performance.

Nothobranchius↗

PubMed2025

Fins as a reliable surrogate tissue for age-related changes of telomeres and DNA methylation in gonads of a short-lived fish.

Senescence is a multifactorial and individualised process of age-related physiological decline. Cellular markers, such as telomere length and DNA methylation, can reveal subtle changes associated with chronological age or expected lifespan. In this study, we evaluated the utility of fin tissue as a surrogate for assessing telomere length and proportion of DNA methylation in the gonads of a small, short-lived laboratory fish, the turquoise killifish (Nothobranchius furzeri). We collected fin and gonadal tissues from both females and males at three different ages. We extracted DNA to measure telomere length via terminal restriction fragment (TRF) analysis and global DNA methylation levels using double-digest restriction-associated DNA sequencing (ddRADseq). Our results show a notable correspondence between telomere length and DNA methylation patterns in fin and gonadal tissues. These findings support the use of fin biopsies as a non-lethal method for assessing ageing biomarkers in the gonads of small freshwater fish.

Animals↗

PubMed2026

Investigation of the Causal Association Between Biological Aging Indicators and Vascular Disease Through Two-Sample Mendelian Randomization Analysis.

ObjectiveThis study used two-sample Mendelian Randomization to investigate the causal link between multiple biological aging indicators and vascular disease.MethodsSummary genetic data was obtained from genome-wide association studies (GWAS) focusing on aging-related exposures and various vascular disease outcomes. The exposures included granulocyte proportions, PAI-1 (plasminogen activator inhibitor-1), telomere lengths, and the Frailty Index. The primary analysis employed the Inverse Variance Weighted (IVW) method to estimate causal relationships, supported by MR-Egger, weighted median, and weighted mode methods. Sensitivity analyses, including Cochran's Q test, MR-Egger regression, leave-one-out test, and the MR Pleiotropy Residual Sum and Outlier (MR-PRESSO) test, were conducted to evaluate heterogeneity and pleiotropy.ResultsThe analysis revealed distinct pathways after sensitivity adjustments. A higher genetically predicted Frailty Index was associated with an increased risk of abdominal aortic aneurysm (OR=2.5935, 95% CI: 1.3936-4.8268, P=0.0026, false discovery rate (FDR)=0.0475), atherosclerosis excluding cerebral and coronary sclerosis (OR=2.0262, 95% CI:1.5179-2.705, P=1.66×10-6, FDR=1×10-4), and arterial thromboembolic events (OR = 4.0306, 95% CI: 1.7133-9.4818, P = 0.0014, FDR = 0.0337). Conversely, longer telomere length demonstrated a strong, specific protective effect against abdominal aortic aneurysm (OR=0.5008, 95% CI:0.4111-0.6100, P=6.42×10-12, FDR=9.25×10-10), indicating that shorter telomere length is associated with an increased risk of AAA. Furthermore, a lower granulocyte proportion was causally linked to an increased risk of thoracic aortic aneurysm (OR=0.0181, 95% CI: 0.0014-0.2376, P=0.0023, FDR=0.0465).ConclusionThis study identifies three genetic pathways linking biological aging to vascular disease, offering new molecular targets for its prevention and treatment.

Humans↗

PubMed2024

Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region.

Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which inevitably results in a deficiency of the SMN protein. In present study, we investigated the potential role of telomere attrition in SMA patients. Relative telomere length in peripheral blood lymphocytes was measured by Monochrome Multiplex Quantitative Polymerase Chain Reaction (MMQPCR) in 98 subjects and we conclusively found that SMA cases exhibit telomere attrition compared to healthy controls (P = 4 × 10- 2). Moreover, significant attrition was also observed in severe form of SMA, i.e. SMA type 0 (P = 0.04) as well.Although, the exact mechanism through which telomere shortening contributes to the pathogenesis of SMA is not fully understood and is yet to be delineated. However, one possibility is that telomere shortening leads to genomic instability and DNA damage, which can contribute to motor neuron degeneration. Another possibility is that telomere shortening leads to cellular senescence, which can impair the ability of motor neurons to regenerate and repair themselves. Recent studies have suggested that telomere shortening may be a potential therapeutic target in SMA. Thus, understanding the role of SMN1 gene in disease pathogenesis & its effect on telomere length will aid in estimating the risk & prognosis of SMA in genetically less explored & highly inbred region of Kashmir, Northern India.

Humans↗

PubMed2026

Occupational exposure to 2,4-dichlorophenoxyacetic acid (2,4-D) and associated oxidative and genomic biomarkers among soybean farmers: a cross-sectional study.

BACKGROUND: 2,4-Dichlorophenoxyacetic acid (2,4-D) is a herbicide widely used for weed control in soybean cultivation. This study aimed to investigate hepatic and genetic damage biomarkers in farmers occupationally exposed to 2,4-D, widely used in soybean cultivation in southern Brazil (Rio Grande do Sul), in addition to estimate urinary 2,4-D concentrations as an indicator of recent exposure. METHODS: A cross-sectional study was conducted, including 54 occupationally exposed farmers and 51 non-exposed controls (organic farmers). RESULTS: Urinary 2,4-D was detected in 88.5% of the exposed group versus 25% of the controls (p < 0.001). Creatine kinase (CK) was significantly elevated in the exposed group (p < 0.05), suggesting possible muscle injury, while AST and ALT (classical liver enzymes) did not differ between groups. Oxidative stress markers showed a clear pattern of redox imbalance, with increased TBARS (p < 0.001), increased CAT activity (p < 0.001), and reduced SOD activity (p < 0.001). Telomere length was significantly shorter in the exposed group (p = 0.001). Use of personal protective equipment (PPE) was reported to be inadequate. CONCLUSION: Occupational exposure to 2,4-D is associated with systemic oxidative stress and telomere shortening, even in the absence of transaminase elevation. This points to early hepatocellular vulnerability mediated by oxidative mechanisms rather than overt cytolysis. The study emphasizes the need for continuous monitoring of populations chronically exposed to chlorophenoxy herbicides.

2,4-dichlorophenoxyacetic acid↗