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https://www.readbyqxmd.com/read/30055055/aplastic-anemia-etiology-molecular-pathogenesis-and-emerging-concepts
#1
REVIEW
Rory M Shallis, Rami Ahmad, Amer M Zeidan
Aplastic anemia (AA) is rare disorder of bone marrow failure which if severe and not appropriately treated is highly fatal. AA is characterized by morphologic marrow features, namely hypocellularity, and resultant peripheral cytopenias. The molecular pathogenesis of AA is not fully understood and a uniform process may not be the culprit across all cases. An antigen-driven and likely autoimmune dysregulated T-cell homeostasis is implicated in the hematopoietic stem cell injury which ultimately founds the pathologic features of the disease...
July 28, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29976374/clinical-correlates-and-treatment-outcomes-for-patients-with-short-telomere-syndromes
#2
Abhishek A Mangaonkar, Alejandro Ferrer, Filippo Pinto E Vairo, Margot A Cousin, Ryan J Kuisle, Eric W Klee, Cassie C Kennedy, Steve G Peters, J P Scott, James P Utz, Misbah Baqir, Hiroshi Sekiguchi, Shakila P Khan, Vilmarie Rodriguez, Douglas A Simonetto, Patrick S Kamath, Roshini S Abraham, Mark E Wylam, Mrinal M Patnaik
Short telomere syndromes (STSs) are accelerated aging syndromes with multisystemic manifestations that present complex management challenges. In this article, we discuss a single-institution experience in diagnosing and managing patients with inherited STSs. In total, we identified 17 patients with short telomeres, defined by flow-fluorescence in-situ hybridization telomere lengths of less than first centile in granulocytes/lymphocytes OR the presence of a characteristic germline pathogenic variant in the context of a highly suggestive clinical phenotype...
July 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29891356/analysis-of-protein-altering-variants-in-telomerase-genes-and-their-association-with-muc5b-common-variant-status-in-patients-with-idiopathic-pulmonary-fibrosis-a-candidate-gene-sequencing-study
#3
Amy Dressen, Alexander R Abbas, Christopher Cabanski, Janina Reeder, Thirumalai R Ramalingam, Margaret Neighbors, Tushar R Bhangale, Matthew J Brauer, Julie Hunkapiller, Jens Reeder, Kiran Mukhyala, Karen Cuenco, Jennifer Tom, Amy Cowgill, Jan Vogel, William F Forrest, Harold R Collard, Paul J Wolters, Jonathan A Kropski, Lisa H Lancaster, Timothy S Blackwell, Joseph R Arron, Brian L Yaspan
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) risk has a strong genetic component. Studies have implicated variations at several loci, including TERT, surfactant genes, and a single nucleotide polymorphism at chr11p15 (rs35705950) in the intergenic region between TOLLIP and MUC5B. Patients with IPF who have risk alleles at rs35705950 have longer survival from the time of IPF diagnosis than do patients homozygous for the non-risk allele, whereas patients with shorter telomeres have shorter survival times...
June 8, 2018: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/29880812/hur-regulates-telomerase-activity-through-terc-methylation
#4
Hao Tang, Hu Wang, Xiaolei Cheng, Xiuqin Fan, Fan Yang, Mengmeng Zhang, Yanlian Chen, Yuyang Tian, Cihang Liu, Dongxing Shao, Bin Jiang, Yali Dou, Yusheng Cong, Junyue Xing, Xiaotian Zhang, Xia Yi, Zhou Songyang, Wenbin Ma, Yong Zhao, Xian Wang, Jinbiao Ma, Myriam Gorospe, Zhenyu Ju, Wengong Wang
Telomerase consists of the catalytic protein TERT and the RNA TERC. Mutations in TERC are linked to human diseases, but the underlying mechanisms are poorly understood. Here we report that the RNA-binding protein HuR associates with TERC and promotes the assembly of the TERC/TERT complex by facilitating TERC C106 methylation. Dyskeratosis congenita (DC)-related TERC U100A mutation impair the association of HuR with TERC, thereby reducing C106 methylation. Two other TERC mutations linked to aplastic anemia and autosomal dominant DC, G107U, and GC107/108AG, likewise disrupt methylation at C106...
June 7, 2018: Nature Communications
https://www.readbyqxmd.com/read/29804726/short-telomere-syndromes-in-clinical-practice-bridging-bench-and-bedside
#5
REVIEW
Abhishek A Mangaonkar, Mrinal M Patnaik
Short telomere syndromes (STSs) are accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. Consequently, organ systems with increased cell turnover, such as the skin, bone marrow, lungs, and gastrointestinal tract, are commonly affected. Owing to diverse clinical presentations, STSs pose a diagnostic challenge, with bone marrow failure and idiopathic pulmonary fibrosis being frequent manifestations, occurring in association with gene mutations involving DKC1 (for expansion of gene symbols, use search tool at www...
July 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29776440/radiological-pleuroparenchymal-fibroelastosis-associated-to-limited-cutaneous-systemic-sclerosis-a-case-report
#6
D Hassoun, S Dirou, P P Arrigoni, C Durant, M Hamidou, A Néel, C Agard
BACKGROUND: Pleuroparenchymal fibroelastosis (PPFE) is a very rare interstitial lung disease (ILD) characterized by progressive fibrotic lesions of the visceral pleura and the sub-pleural parenchyma, affecting predominantly the upper lobes. PPFE may occur in different contextes like bone marrow or lung transplantations, but also in the context of telomeropathy with mutations of telomerase reverse transcriptase (TERT), telomerase RNA component (TERC) or regulator of telomere elongation helicase 1 (RTEL1) genes...
May 18, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29751586/telomere-maintenance-mechanisms-in-cancer
#7
REVIEW
Tiago Bordeira Gaspar, Ana Sá, José Manuel Lopes, Manuel Sobrinho-Simões, Paula Soares, João Vinagre
Tumour cells can adopt telomere maintenance mechanisms (TMMs) to avoid telomere shortening, an inevitable process due to successive cell divisions. In most tumour cells, telomere length (TL) is maintained by reactivation of telomerase, while a small part acquires immortality through the telomerase-independent alternative lengthening of telomeres (ALT) mechanism. In the last years, a great amount of data was generated, and different TMMs were reported and explained in detail, benefiting from genome-scale studies of major importance...
May 3, 2018: Genes
https://www.readbyqxmd.com/read/29742735/a-case-report-of-heterozygous-tinf2-gene-mutation-associated-with-pulmonary-fibrosis-in-a-patient-with-dyskeratosis-congenita
#8
Hongchun Du, Yubiao Guo, Di Ma, Kejing Tang, Decheng Cai, Yifeng Luo, Canmao Xie
RATIONALE: Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary fibrosis. Mutations in TINF2 gene have been reported to be associated with bone marrow failure in most cases. However, the relationship between TINF2 mutation and pulmonary fibrosis is not yet clear...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29596117/multiple-solid-organ-transplantation-in-telomeropathy-case-series-and-literature-review
#9
Marnix Lebeer, Wim A Wuyts, David Cassiman, Wim Laleman, Frederik Nevens, Jacques Pirenne, Diethard Monbaliu, Tania Roskams, Eric K Verbeken, Arne P Neyrinck, Dirk E Van Raemdonck, Geert M Verleden, Robin Vos
BACKGROUND: Solid organ transplantation is a valid treatment option for selected patients with organ failure due to an underlying telomeropathy, however, feasibility of multiple-organ transplantation if several organs are compromised is unclear. METHODS: We describe 2 patients with telomeropathy due to heterozygous TERC or TERT mutation, who successfully underwent serial or combined liver and lung transplantation for concurrent liver fibrosis/cirrhosis and pulmonary fibrosis...
March 29, 2018: Transplantation
https://www.readbyqxmd.com/read/29483670/novel-variants-in-nordic-patients-referred-for-genetic-testing-of-telomere-related-disorders
#10
Anna Norberg, Anna Rosén, Klas Raaschou-Jensen, Lars Kjeldsen, Jukka S Moilanen, Ylva Paulsson-Karlsson, Panagiotis Baliakas, Olli Lohi, Aymen Ahmed, Astrid O Kittang, Pär Larsson, Göran Roos, Sofie Degerman, Magnus Hultdin
Telomere-related disorders are a clinically and genetically heterogeneous group of disorders characterized by premature telomere shortening and proliferative failure of a variety of tissues. This study reports the spectrum of telomere-related gene variants and telomere length in Nordic patients referred for genetic testing due to suspected telomere-related disorder. We performed Sanger sequencing of the genes TERT, TERC, DKC1, and TINF2 on 135 unrelated index patients and measured telomere length by qPCR on DNA from peripheral blood leukocytes...
June 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29474209/pulmonary-phenotypes-associated-with-genetic-variation-in-telomere-related-genes
#11
Thijs W Hoffman, Coline H M van Moorsel, Raphael Borie, Bruno Crestani
PURPOSE OF REVIEW: Genomic mutations in telomere-related genes have been recognized as a cause of familial forms of idiopathic pulmonary fibrosis (IPF). However, it has become increasingly clear that telomere syndromes and telomere shortening are associated with various types of pulmonary disease. Additionally, it was found that also single nucleotide polymorphisms (SNPs) in telomere-related genes are risk factors for the development of pulmonary disease. This review focuses on recent updates on pulmonary phenotypes associated with genetic variation in telomere-related genes...
May 2018: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/29462198/hexokinase-2-is-a-molecular-bridge-linking-telomerase-and-autophagy
#12
Jae-Il Roh, Yujin Kim, Jahyun Oh, Yunmi Kim, Jeehyun Lee, Jaehoon Lee, Kyung-Hee Chun, Han-Woong Lee
Autophagy is systematically regulated by upstream factors and nutrients. Recent studies reported that telomerase and hexokinase 2 [HK2) regulate autophagy through mTOR and that telomerase has the capacity to bind to the HK2 promoter. However, the molecular linkage among telomerase, HK2, and autophagy is not fully understood. Here, we show that HK2 connects telomerase to autophagy. HK2 inhibition in HepG2 cells suppressed TERT-induced autophagy activation and further enhancement by glucose deprivation. The HK2 downstream factor mTOR was responsible for the TERT-induced autophagy activation under glucose deprivation, implying that TERT promotes autophagy through an HK2-mTOR pathway...
2018: PloS One
https://www.readbyqxmd.com/read/29351466/telomerase-reverse-transcriptase-protects-against-angiotensin-ii-induced-microvascular-endothelial-dysfunction
#13
Karima Ait-Aissa, Andrew O Kadlec, Joseph Hockenberry, David D Gutterman, Andreas M Beyer
A rise in reactive oxygen species (ROS) may contribute to cardiovascular disease by reducing nitric oxide (NO) levels, leading to loss of NO's vasodilator and anti-inflammatory effects. Although primarily studied in larger conduit arteries, excess ROS release and a corresponding loss of NO also occur in smaller resistance arteries of the microcirculation, but the underlying mechanisms and therapeutic targets have not been fully characterized. We examined whether either of the two subunits of telomerase, telomerase reverse transcriptase (TERT) or telomerase RNA component (TERC), affect microvascular ROS production and peak vasodilation at baseline and in response to in vivo administration to angiotensin II (ANG II)...
May 1, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29299136/genetic-variations-in-terc-and-tert-genes-are-associated-with-lung-cancer-risk-in-a-chinese-han-population
#14
Gang Ye, Nan Tan, Chenyang Meng, Jingjie Li, Li Jing, Mengdan Yan, Tianbo Jin, Fulin Chen
The study was aimed to explore whether the TERT and TERC polymorphisms are associated with the lung cancer risk. Five TERC and TERT polymorphisms were genotyped from 554 lung cancer patients and 603 healthy controls. We used χ2 test, genetic model, linkage disequilibrium (LD) and haplotype analyses to evaluate the association between the polymorphisms and lung cancer risk. We found that the allele "C" of rs10936599 ( TERC ) and the allele "T" of rs10069690 ( TERT ) were associated with increased risk of lung cancer (OR = 1...
December 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/29296896/maintenance-of-telomere-length-in-aml
#15
REVIEW
Peter M Lansdorp
The importance of telomere length to human health, aging, and cancer continues to be underappreciated. This review examines some basics of telomere biology and relates how telomere function, telomerase activity, and mutations in TERC or TERT are involved in bone marrow failure, leukemias, and other cancers. Given the challenge to obtain accurate data on telomerase activity and telomere length in specific cell types, the situation in acute myeloid leukemia (AML) remains puzzling. In most cancers, telomerase levels are increased after cells have encountered a "telomere crisis," which is typically associated with poor prognosis...
November 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29151059/genome-wide-association-study-of-telomere-length-among-south-asians-identifies-a-second-rtel1-association-signal
#16
Dayana A Delgado, Chenan Zhang, Lin S Chen, Jianjun Gao, Shantanu Roy, Justin Shinkle, Mekala Sabarinathan, Maria Argos, Lin Tong, Alauddin Ahmed, Tariqul Islam, Muhammad Rakibuz-Zaman, Golam Sarwar, Hasan Shahriar, Mahfuzar Rahman, Mohammad Yunus, Farzana Jasmine, Muhammad G Kibriya, Habibul Ahsan, Brandon L Pierce
BACKGROUND: Leucocyte telomere length (TL) is a potential biomarker of ageing and risk for age-related disease. Leucocyte TL is heritable and shows substantial differences by race/ethnicity. Recent genome-wide association studies (GWAS) report ~10 loci harbouring SNPs associated with leucocyte TL, but these studies focus primarily on populations of European ancestry. OBJECTIVE: This study aims to enhance our understanding of genetic determinants of TL across populations...
January 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29146883/a-landscape-of-germ-line-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#17
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Nadia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% BM blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germ line mutation in 86 patients (48...
February 15, 2018: Blood
https://www.readbyqxmd.com/read/29100352/genetic-variations-in-terc-and-tert-genes-are-associated-with-renal-cell-carcinoma-risk-in-a-chinese-han-population
#18
Dapeng Wu, Guodong Zhu, Jin Zeng, Wenbin Song, Ke Wang, Xinyang Wang, Peng Guo, Dalin He
Renal cell carcinoma (RCC) is a common malignant tumor of the urinary system, the pathogenesis of RCC is still unclear. It is reported that genetic variations in telomere length related-genes TERT and TERC are involved in the many types of cancers. However, little is known about the association between TERT and TERC polymorphisms and susceptibility to RCC risk. To solve this problem, a total of 293 patients with primary renal cell carcinoma and 459 healthy people were recruited in our study. Six SNPs of TERC and TERT were genotyped, and association analysis was performed...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28985021/the-effects-of-gene-polymorphisms-on-glioma-prognosis
#19
Ying Cui, Guolin Li, Mengdan Yan, Jing Li, Tianbo Jin, Shanqu Li, Shijie Mu
BACKGROUND: Malignant gliomas are the most common primary brain tumors. Various genetic factors play important roles in the development and prognosis of glioma. The present study focuses on the impact of MPHOSPH6, TNIP1 and several other genes (ACYP2, NAF1, TERC, TERT, OBFC1, ZNF208 and RTEL1) on telomere length and how this affects the prognosis of glioma. METHODS: Forty-three polymorphisms in nine genes from 605 glioma patients were selected. The association between genotype and survival outcome was analyzed using the Kaplan-Meier method, Cox regression analysis and the log-rank test...
November 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28888037/myc-drives-overexpression-of-telomerase-rna-htr-terc-in-prostate-cancer
#20
Javier A Baena-Del Valle, Qizhi Zheng, David M Esopi, Michael Rubenstein, Gretchen K Hubbard, Maria C Moncaliano, Andrew Hruszkewycz, Ajay Vaghasia, Srinivasan Yegnasubramanian, Sarah J Wheelan, Alan K Meeker, Christopher M Heaphy, Mindy K Graham, Angelo M De Marzo
Telomerase consists of at least two essential elements, an RNA component hTR or TERC that contains the template for telomere DNA addition, and a catalytic reverse transcriptase (TERT). While expression of TERT has been considered the key rate limiting component for telomerase activity, increasing evidence suggests an important role for the regulation of TERC in telomere maintenance and perhaps other functions in human cancer. By using three orthogonal methods including RNAseq, RT-qPCR, and an analytically validated chromogenic RNA in situ hybridization assay, we report consistent overexpression of TERC in prostate cancer...
September 9, 2017: Journal of Pathology
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