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Telomere and fibrosis

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https://www.readbyqxmd.com/read/29770205/beginning-at-the-ends-telomeres-and-human-disease
#1
REVIEW
Sharon A Savage
Studies of rare and common illnesses have led to remarkable progress in the understanding of the role of telomeres (nucleoprotein complexes at chromosome ends essential for chromosomal integrity) in human disease. Telomere biology disorders encompass a growing spectrum of conditions caused by rare pathogenic germline variants in genes encoding essential aspects of telomere function. Dyskeratosis congenita, a disorder at the severe end of this spectrum, typically presents in childhood with the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia, accompanied by a very high risk of bone marrow failure, cancer, pulmonary fibrosis, and other medical problems...
2018: F1000Research
https://www.readbyqxmd.com/read/29758336/grand-rounds-hepatic-manifestations-of-telomere-biology-disorders
#2
REVIEW
Mrinal M Patnaik, Patrick S Kamath, Douglas A Simonetto
Clinical Case A 51 year old Caucasian male was referred for evaluation of variceal bleeding. Laboratory tests were remarkable for mild thrombocytopenia and moderate alkaline phosphatase elevation. Synthetic liver function was well preserved. Abdominal computed tomography scan revealed moderate splenomegaly, gastric varices, and normal hepatic contour. A transjugular liver biopsy was performed revealing findings of nodular regenerative hyperplasia (NRH) with no significant fibrosis or necroinflammatory activity...
May 11, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29755982/clinical-genetics-in-interstitial-lung-disease
#3
REVIEW
Chad A Newton, Philip L Molyneaux, Justin M Oldham
Interstitial lung disease (ILD) comprises a heterogeneous group of diffuse parenchymal lung processes with overlapping clinical, radiographic, and histopathologic features. Among the most common and deadly ILDs are idiopathic pulmonary fibrosis (IPF) and chronic hypersensitivity pneumonitis (CHP). As the name implies, the cause of IPF remains elusive, but a variety of genetic and infectious risk factors have been identified. CHP results from chronic inhalation of an organic antigen, usually of avian or mold origin, and may occur in patients with a genetic predisposition...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29751799/the-aging-lung-tissue-telomere-shortening-in-health-and-disease
#4
Stephanie Everaerts, Elise J Lammertyn, Dries S Martens, Laurens J De Sadeleer, Karen Maes, Aernoud A van Batenburg, Roel Goldschmeding, Coline H M van Moorsel, Lieven J Dupont, Wim A Wuyts, Robin Vos, Ghislaine Gayan-Ramirez, Naftali Kaminski, James C Hogg, Wim Janssens, Geert M Verleden, Tim S Nawrot, Stijn E Verleden, John E McDonough, Bart M Vanaudenaerde
BACKGROUND: Telomere shortening has been associated with several lung diseases. However, telomere length is generally measured in peripheral blood leucocytes rather than in lung tissue, where disease occurs. Consequently, telomere dynamics have not been established for the normal human lung nor for diseased lung tissue. We hypothesized an age- and disease-dependent shortening of lung tissue telomeres. METHODS: At time of (re-)transplantation or autopsy, 70 explant lungs were collected: from unused donors (normal, n = 13) and patients with cystic fibrosis (CF, n = 12), chronic obstructive pulmonary disease (COPD, n = 11), chronic hypersensitivity pneumonitis (cHP, n = 9), bronchiolitis obliterans syndrome (BOS) after prior transplantation (n = 11) and restrictive allograft syndrome (RAS) after prior transplantation (n = 14)...
May 11, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29701108/acute-kidney-injury-as-a-condition-of-renal-senescence
#5
Lucia Andrade, Camila E Rodrigues, Samirah A Gomes, Irene L Noronha
Acute kidney injury (AKI), characterized by a sharp drop in glomerular filtration, continues to be a significant health burden because it is associated with high initial mortality, morbidity, and substantial health-care costs. There is a strong connection between AKI and mechanisms of senescence activation. After ischemic or nephrotoxic insults, a wide range of pathophysiological events occur. Renal tubular cell injury is characterized by cell membrane damage, cytoskeleton disruption, and DNA degradation, leading to tubular cell death by necrosis and apoptosis...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29696773/complex-phenotype-of-dyskeratosis-congenita-and-mood-dysregulation-with-novel-homozygous-rtel1-and-tph1-variants
#6
Rachel A Ungar, Neelam Giri, Maryland Pao, Payal P Khincha, Weiyin Zhou, Blanche P Alter, Sharon A Savage
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome caused by germline mutations in telomere biology genes. Patients have extremely short telomeres for their age and a complex phenotype including oral leukoplakia, abnormal skin pigmentation, and dysplastic nails in addition to bone marrow failure, pulmonary fibrosis, stenosis of the esophagus, lacrimal ducts and urethra, developmental anomalies, and high risk of cancer. We evaluated a patient with features of DC, mood dysregulation, diabetes, and lack of pubertal development...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29693137/mesenchymal-stem-cells-attenuate-doxorubicin%C3%A2-induced-cellular-senescence-through-the-vegf-notch-tgf%C3%A2-%C3%AE-signaling-pathway-in-h9c2-cardiomyocytes
#7
Lingli Chen, Wenzheng Xia, Meng Hou
The clinical use of doxorubicin (Dox) is limited by its cardiotoxicity. The fundamental changes it induces include interstitial myocardial fibrosis and the appearance of senescent cardiomyocytes. Mesenchymal stem cell (MSC)‑based therapies have also been reported to modulate cellular senescence, and have been used effectively to treat age‑related cardiovascular diseases. In the present study, the Transwell system was used to coculture H9c2 cells with MSCs, and their proliferation and viability were assessed...
April 19, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29536006/telomerase-reverse-transcriptase-polymorphism-rs2736100-a-balancing-act-between-cancer-and-non-cancer-disease-a-meta-analysis
#8
Reinier Snetselaar, Matthijs F M van Oosterhout, Jan C Grutters, Coline H M van Moorsel
The enzyme telomerase reverse transcriptase (TERT) is essential for telomere maintenance. In replicating cells, maintenance of telomere length is important for the preservation of vital genetic information and prevention of genomic instability. A common genetic variant in TERT , rs2736100 C/A, is associated with both telomere length and multiple diseases. Carriage of the C allele is associated with longer telomere length, while carriage of the A allele is associated with shorter telomere length. Furthermore, some diseases have a positive association with the C and some with the A allele...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29529386/cell-type-specific-quantification-of-telomere-length-and-dna-double-strand-breaks-in-individual-lung-cells-by-fluorescence-in-situ-hybridization-and-fluorescent-immunohistochemistry
#9
Aernoud A van Batenburg, Karin M Kazemier, Ton Peeters, Matthijs F M van Oosterhout, Joanne J van der Vis, Jan C Grutters, Roel Goldschmeding, Coline H M van Moorsel
Telomeres are small repetitive DNA sequences at the ends of chromosomes which act as a buffer in age-dependent DNA shortening. Insufficient telomere repeats will be recognized as double-strand breaks. Presently, it is becoming more evident that telomere attrition, whether or not caused by mutations in telomere maintenance genes, plays an important role in many inflammatory and age-associated diseases. In this report, a method to (semi)quantitatively assess telomere length and DNA double-strand breaks in formalin-fixed paraffin-embedded (FFPE) tissue is described...
March 1, 2018: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/29474209/pulmonary-phenotypes-associated-with-genetic-variation-in-telomere-related-genes
#10
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/29463756/diagnostic-utility-of-telomere-length-testing-in-a-hospital-based-setting
#11
Jonathan K Alder, Vidya Sagar Hanumanthu, Margaret A Strong, Amy E DeZern, Susan E Stanley, Clifford M Takemoto, Ludmila Danilova, Carolyn D Applegate, Stephen G Bolton, David W Mohr, Robert A Brodsky, James F Casella, Carol W Greider, J Brooks Jackson, Mary Armanios
Telomere length (TL) predicts the onset of cellular senescence in vitro but the diagnostic utility of TL measurement in clinical settings is not fully known. We tested the value of TL measurement by flow cytometry and FISH (flowFISH) in patients with mutations in telomerase and telomere maintenance genes. TL had a discrete and reproducible normal range with definable upper and lower boundaries. While TL above the 50th age-adjusted percentile had a 100% negative predictive value for clinically relevant mutations, the lower threshold in mutation carriers was age-dependent, and adult mutation carriers often overlapped with the lowest decile of controls...
March 6, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29441645/short-telomeres-induce-p53-and-autophagy-and-modulate-age-associated-changes-in-cardiac-progenitor-cell-fate
#12
Collin Matsumoto, Yan Jiang, Jacqueline Emathinger, Pearl Quijada, Nathalie Nguyen, Andrea De La Torre, Maryam Moshref, Jonathan Nguyen, Aimee B Levinson, Minyoung Shin, Mark A Sussman, Nirmala Hariharan
Aging severely limits myocardial repair and regeneration. Delineating the impact of age-associated factors such as short telomeres is critical to enhance the regenerative potential of cardiac progenitor cells (CPCs). We hypothesized that short telomeres activate p53 and induce autophagy to elicit the age-associated change in CPC fate. We isolated CPCs and compared mouse strains with different telomere lengths for phenotypic characteristics of aging. Wild mouse strain Mus musculus castaneus (CAST) possessing short telomeres exhibits early cardiac aging with cardiac dysfunction, hypertrophy, fibrosis, and senescence, as compared with common lab strains FVB and C57 bearing longer telomeres...
February 14, 2018: Stem Cells
https://www.readbyqxmd.com/read/29382801/acute-graft-versus-host-disease-following-lung-transplantation-in-a-patient-with-a-novel-tert-mutation
#13
Jonathan R Brestoff, Alexandre T Vessoni, Kirsten A Brenner, Geoffrey L Uy, John F DiPersio, Morey Blinder, Chad A Witt, Derek E Byers, Ramsey R Hachem, Elbert P Truclock, Dayna S Early, Milan J Anadkat, Amy Musiek, Cylen Javidan-Nejad, Dennis M Balfe, Ilana S Rosman, Chang Liu, Lingxin Zhang, George J Despotis, Marianna B Ruzinova, Jennifer K Sehn, Ina Amarillo, Jonathan W Heusel, Wojcieh Swat, Brian S Kim, Lukas D Wartman, Roger D Yusen, Luis F Z Batista
Familial pulmonary fibrosis is associated with loss-of-function mutations in telomerase reverse transcriptase ( TERT ) and short telomeres. Interstitial lung diseases have become the leading indication for lung transplantation in the USA, and recent data indicate that pathogenic mutations in telomerase may cause unfavourable outcomes following lung transplantation. Although a rare occurrence, solid organ transplant recipients who develop acute graft-versus-host disease (GVHD) have very poor survival. This case report describes the detection of a novel mutation in TERT in a patient who had lung transplantation for familial pulmonary fibrosis and died from complications of acute GVHD...
May 2018: Thorax
https://www.readbyqxmd.com/read/29378675/therapeutic-effects-of-telomerase-in-mice-with-pulmonary-fibrosis-induced-by-damage-to-the-lungs-and-short-telomeres
#14
Juan Manuel Povedano, Paula Martinez, Rosa Serrano, Águeda Tejera, Gonzalo Gómez-López, Maria Bobadilla, Juana Maria Flores, Fátima Bosch, Maria A Blasco
Pulmonary fibrosis is a fatal lung disease characterized by fibrotic foci and inflammatory infiltrates. Short telomeres can impair tissue regeneration and are found both in hereditary and sporadic cases. We show here that telomerase expression using AAV9 vectors shows therapeutic effects in a mouse model of pulmonary fibrosis owing to a low-dose bleomycin insult and short telomeres. AAV9 preferentially targets regenerative alveolar type II cells (ATII). AAV9- Tert -treated mice show improved lung function and lower inflammation and fibrosis at 1-3 weeks after viral treatment, and improvement or disappearance of the fibrosis at 8 weeks after treatment...
January 30, 2018: ELife
https://www.readbyqxmd.com/read/29281671/short-telomere-length-in-ipf-lung-associates-with-fibrotic-lesions-and-predicts-survival
#15
Reinier Snetselaar, Aernoud A van Batenburg, Matthijs F M van Oosterhout, Karin M Kazemier, Suzan M Roothaan, Ton Peeters, Joanne J van der Vis, Roel Goldschmeding, Jan C Grutters, Coline H M van Moorsel
Telomere maintenance dysfunction has been implicated in the pathogenesis of Idiopathic Pulmonary Fibrosis (IPF). However, the mechanism of how telomere length is related to fibrosis in the lungs is unknown. Surgical lung biopsies of IPF patients typically show a heterogeneous pattern of non-fibrotic and fibrotic areas. Therefore, telomere length (TL) in both lung areas of patients with IPF and familial interstitial pneumonia was compared, specifically in alveolar type 2 (AT2) cells. Fluorescent in situ hybridization was used to determine TL in non-fibrotic and fibrotic areas of 35 subjects...
2017: PloS One
https://www.readbyqxmd.com/read/29230030/silica-inhalation-altered-telomere-length-and-gene-expression-of-telomere-regulatory-proteins-in-lung-tissue-of-rats
#16
Mohammad Shoeb, Pius Joseph, Vamsi Kodali, Gul Mustafa, Breanne Y Farris, Christina Umbright, Jenny R Roberts, Aaron Erdely, James M Antonini
Exposure to silica can cause lung fibrosis and cancer. Identification of molecular targets is important for the intervention and/or prevention of silica-induced lung diseases. Telomeres consist of tandem repeats of DNA sequences at the end of chromosomes, preventing chromosomal fusion and degradation. Regulator of telomere length-1 (RTEL1) and telomerase reverse transcriptase (TERT), genes involved in telomere regulation and function, play important roles in maintaining telomere integrity and length. The goal of this study was to assess the effect of silica inhalation on telomere length and the regulation of RTEL1 and TERT...
December 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29222262/pediatric-leukemia-susceptibility-disorders-manifestations-and-management
#17
REVIEW
Lisa J McReynolds, Sharon A Savage
The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29204651/whole-exome-sequencing-in-adults-with-chronic-kidney-disease-a-pilot-study
#18
Sneh Lata, Maddalena Marasa, Yifu Li, David A Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M Slater, Vivette D'Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A Newton, Maya K Rao, Jai Radhakrishnan, Wooin Ahn, Pietro A Canetta, Andrew S Bomback, Gerald B Appel, Corinne Antignac, Glen S Markowitz, Christine K Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G Gharavi
Background: The utility of whole-exome sequencing (WES) for the diagnosis and management of adult-onset constitutional disorders has not been adequately studied. Genetic diagnostics may be advantageous in adults with chronic kidney disease (CKD), in whom the cause of kidney failure often remains unknown. Objective: To study the diagnostic utility of WES in a selected referral population of adults with CKD. Design: Observational cohort. Setting: A major academic medical center...
January 16, 2018: Annals of Internal Medicine
https://www.readbyqxmd.com/read/29197377/regulation-of-terra-on-telomeric-and-mitochondrial-functions-in-ipf-pathogenesis
#19
Yulin Gao, Jinjin Zhang, Yuxia Liu, Songzi Zhang, Youlei Wang, Bo Liu, Huizhu Liu, Rongrong Li, Changjun Lv, Xiaodong Song
BACKGROUND: Aging is a known risk factor of idiopathic pulmonary fibrosis (IPF). However, the pathogenic mechanisms underlying the effects of advanced aging remain largely unknown. Telomeric repeat-containing RNA (TERRA) represents a type of long noncoding RNA. In this study, the regulatory roles of TERRA on human telomeres and mitochondria and IPF epithelial injury model were identified. METHODS: Blood samples were collected from patients with IPF (n = 24) and matched control individuals (n = 24)...
December 2, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29144994/gene-pathways-associated-with-mitochondrial-function-oxidative-stress-and-telomere-length-are-differentially-expressed-in-the-liver-of-rats-fed-lifelong-on-virgin-olive-sunflower-or-fish-oils
#20
Alfonso Varela-Lopez, María Patricia Pérez-López, César Luis Ramirez-Tortosa, Maurizio Battino, Sergio Granados-Principal, María Del Carmen Ramirez-Tortosa, Julio José Ochoa, Laura Vera-Ramirez, Francesca Giampieri, José Luis Quiles
This study investigates the effect of lifelong intake of different fat sources rich in monounsaturated (virgin olive oil), n6 polyunsaturated (sunflower oil) or n3 polyunsaturated (fish oil) fatty acids in the aged liver. Male Wistar rats fed lifelong on diets differing in the fat source were killed at 6 and at 24 months of age. Liver histopathology, mitochondrial ultrastructure, biogenesis, oxidative stress, mitochondrial electron transport chain, relative telomere length and gene expression profiles were studied...
February 2018: Journal of Nutritional Biochemistry
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