Article
Oncology
Gh. Rasool Bhat, Rajeshwer Singh Jamwal, Itty Sethi, Amrita Bhat, Ruchi Shah, Sonali Verma, Minerva Sharma, Hana Q. Sadida, Sara K. Al-Marzooqi, Tariq Masoodi, Sameer Mirza, Mohammad Haris, Muzafar A. Macha, Ammira S. Alshabeeb Akil, Ajaz A. Bhat, Rakesh Kumar
Summary: This study highlights the important relationship between genetic variation in telomere maintenance genes, telomere attrition, and NSCLC risk in the population of Jammu and Kashmir, North India. The study found significant associations between specific variants in TERT and POT1 genes and NSCLC risk, as well as significantly shorter telomere lengths in NSCLC patients. These findings suggest that TERT and POT1 gene variants, along with telomere length, may serve as potential biomarkers and therapeutic targets for NSCLC in this population.
Article
Genetics & Heredity
Yonggui Xiao, Danping Xu, Chonghao Jiang, Youlong Huili, Shiwen Nie, Hongfei Zhu, Guorui Fan, Xiaohai Guan
Summary: Through bioinformatics analysis, we obtained a prognostic model of telomere maintenance-related genes. Through validation with both internal and external groups, we believe that the model can accurately predict the survival of bladder cancer patients. With the help of the HPA database, we identified genes with low expression in tumor patients (ABCC9, AHNAK, DIP2C) and genes with high expression (PLOD1, SLC3A2, RUNX2, RAD9A, CHMP4C, DARS2, CLIC3, POU5F1). The model has accurate predictive power for populations with different clinical and pathological features. Clinicians can use the nomogram to easily assess patient survival rates and formulate personalized treatment plans based on prediction results, immune analysis, and drug susceptibility analysis. Different subtypes can further divide patients for more precise treatment plans.
FRONTIERS IN GENETICS
(2023)
Review
Biochemistry & Molecular Biology
Eleonora Vertecchi, Angela Rizzo, Erica Salvati
Summary: Telomeres, crucial for maintaining genome stability, gradually shorten over time and can determine the senescence of cells and organisms. Targeting telomere maintenance mechanisms has become an important approach for cancer treatment, as telomere length homeostasis plays a critical role in cancer development. Dysfunction in telomeres can affect intracellular signaling pathways, particularly DNA damage signaling and repair, leading to implications for cancer cell survival and proliferation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Yongshi Liu, Xiaohua Liang, Hongpei Zhang, Jiajia Dong, Yan Zhang, Juan Wang, Chunmei Li, Xiangbing Xin, Yan Li
Summary: This study found associations between polymorphisms of EIF2AK3, HSPA5, and DDIT3 genes and the risk of lung cancer. The A allele of rs6750998 was shown to be a protective allele, while the minor alleles of rs867529, rs391957, and rs697221 were all risk alleles. Different genotypes were associated with an increased or decreased risk of lung cancer.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Article
Biology
Varvara Minina, Anna Timofeeva, Anastasya Torgunakova, Olga Soboleva, Marina Bakanova, Yana Savchenko, Elena Voronina, Andrey Glushkov, Alexander Prosekov, Aleksandra Fucic
Summary: Through genotyping and gene-gene interaction analysis, this study found associations between APEX1 and XPD gene polymorphisms with increased risk of LC, while GSTM1 deletion was associated with decreased risk of LC formation. The combination of GSTM1 (deletion)-APEX1 (rs1130409)-XPD (rs13181) was identified as a potential risk factor for LC development in coal mine workers.
Article
Oncology
Maria Monteagudo, Paula Martinez, Luis J. Leandro-Garcia, Angel M. Martinez-Montes, Bruna Calsina, Marta Pulgarin-Alfaro, Alberto Diaz-Talavera, Sara Mellid, Rocio Leton, Eduardo Gil, Manuel Perez-Martinez, Diego Megias, Raul Torres-Ruiz, Sandra Rodriguez-Perales, Patricia Gonzalez, Eduardo Caleiras, Scherezade Jimenez-Villa, Giovanna Roncador, Cristina Alvarez-Escola, Rita M. Regojo, Maria Calatayud, Sonsoles Guadalix, Maria Curras-Freixes, Elena Rapizzi, Letizia Canu, Svenja Noelting, Hanna Remde, Martin Fassnacht, Nicole Bechmann, Graeme Eisenhofer, Massimo Mannelli, Felix Beuschlein, Marcus Quinkler, Cristina Rodriguez-Antona, Alberto Cascon, Maria A. Blasco, Cristina Montero-Conde, Mercedes Robledo
Summary: Recent studies have highlighted the importance of telomere maintenance mechanisms involving TERT and ATRX genes in metastatic pheochromocytoma and paraganglioma (mPPGL). In addition to validating the predictive value of TERT and ATRX in mPPGL progression, this study also identified NOP10 as a novel prognostic risk marker of mPPGLs. By analyzing 29 telomere-related genes, it was found that NOP10 plays a role in telomerase-dependent telomere length maintenance in these tumors, suggesting its potential as a new marker for identifying metastatic-risk patients. The proposal to implement NOP10 immunohistochemistry (IHC) as part of the current marker panel for PPGL patients aims to improve clinical diagnoses.
Review
Cell Biology
Hiroshi Ebata, Tze Mun Loo, Akiko Takahashi
Summary: This review summarizes the unique characteristics of cancer cells, such as high proliferation and aberrant DNA damage response, and the role of telomerase and ALT in cancer regulation. It focuses on their noncanonical functions beyond telomere maintenance, as well as intercellular communication in the tumor microenvironment (TME) through the cGAS-STING pathway. Understanding the functional connection between telomere-related molecules and TME regulation is crucial for developing cancer therapeutics targeting specific pathways.
Article
Biology
Ricardo Cortez Cardoso Penha, Karl Smith-Byrne, Joshua R. Atkins, Philip C. Haycock, Siddhartha Kar, Veryan Codd, Nilesh J. Samani, Christopher Nelson, Maja Milojevic, Aurelie A. G. Gabriel, Christopher Amos, Paul Brennan, Rayjean J. Hung, Linda Kachuri, James D. Mckay
Summary: This study explored the shared genetic basis between leukocyte telomere length (LTL) and lung cancer susceptibility, and investigated their impact on somatic environment of lung tumors. The results revealed that although there was no genome-wide genetic correlation between LTL and lung cancer risk, longer LTL conferred an increased risk of lung cancer, especially for adenocarcinoma. The study also identified novel susceptibility loci and potential molecular mechanisms related to LTL in lung adenocarcinoma.
Review
Oncology
Jixuan Gao, Hilda A. Pickett
Summary: This review discusses the latest developments and strategies in targeting telomerase and ALT mechanisms for cancer treatment. It also introduces the methods for detecting these two mechanisms and their utility in clinical diagnosis. In addition to inhibiting telomere maintenance, exploiting the weaknesses of telomeres themselves can induce cell death.
NATURE REVIEWS CANCER
(2022)
Article
Immunology
Xiaohua Liang, Jian Wang, Yongshi Liu, Lin Wei, Feng Tian, Jianyong Sun, Guoliang Han, Yan Wang, Chao Ding, Zhaolei Guo
Summary: SNPs of COX/PGE2 pathway-related genes are associated with an elevated risk of lung cancer, providing new clues for understanding the pathogenesis and personalized treatment of the disease.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2022)
Article
Biology
Kevin Hu, Mahmoud Ghandi, Franklin W. Huang
Summary: Research shows that telomerase reverse transcriptase (TERT) expression correlates with telomere content in lung, central nervous system, and leukemia cell lines. Lower telomeric content is associated with dependency of CST telomere maintenance genes, while increased dependencies of shelterin members are associated with wild-type TP53 status.
Article
Biochemistry & Molecular Biology
Ji-Yong Sung, Jae-Ho Cheong
Summary: This study classified four telomere maintenance mechanisms and demonstrated the impact of different TMMs on patient prognoses in six cancer types. The results revealed significant associations between specific TMMs and patient outcomes, as well as potential effects of master transcriptional regulators on TMM pathway selection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Immunology
Andrzej Wisniewski, Maciej Sobczynski, Konrad Pawelczyk, Irena Porebska, Monika Jasek, Marta Wagner, Wanda Niepieklo-Miniewska, Aneta Kowal, Joanna Dubis, Natalia Jedruchniewicz, Piotr Kusnierczyk
Summary: The distribution of APM polymorphic variants in NSCLC patients shows significant differences between smokers and never-smokers, indicating that ERAP1 may play a different role in anti-cancer response depending on smoking status.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Environmental Sciences
Xiaoshan Zhou, Xinling Li, Wan Wei, Xiaoran Duan, Hui Zhang, Mingcui Ding, Wu Yao, Qi Wang, Wei Wang, Yongli Yang
Summary: The study found that the level of H2O2 was higher in omethoate exposure workers and was associated with the AA + AT genotypes in the POT1 gene. This suggests that genetic variations in telomere pathway genes may indirectly regulate telomere length by influencing oxidative stress.
ENVIRONMENTAL TOXICOLOGY AND PHARMACOLOGY
(2021)
