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Telomere and pulmonary 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/29696773/complex-phenotype-of-dyskeratosis-congenita-and-mood-dysregulation-with-novel-homozygous-rtel1-and-tph1-variants
#5
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/29536006/telomerase-reverse-transcriptase-polymorphism-rs2736100-a-balancing-act-between-cancer-and-non-cancer-disease-a-meta-analysis
#6
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
#7
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
#8
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
#9
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/29382801/acute-graft-versus-host-disease-following-lung-transplantation-in-a-patient-with-a-novel-tert-mutation
#10
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
#11
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
#12
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/29222262/pediatric-leukemia-susceptibility-disorders-manifestations-and-management
#13
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/29197377/regulation-of-terra-on-telomeric-and-mitochondrial-functions-in-ipf-pathogenesis
#14
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/29116081/a-method-for-measuring-the-distribution-of-the-shortest-telomeres-in-cells-and-tissues
#15
Tsung-Po Lai, Ning Zhang, Jungsik Noh, Ilgen Mender, Enzo Tedone, Ejun Huang, Woodring E Wright, Gaudenz Danuser, Jerry W Shay
Improved methods to measure the shortest (not just average) telomere lengths (TLs) are needed. We developed Telomere Shortest Length Assay (TeSLA), a technique that detects telomeres from all chromosome ends from <1 kb to 18 kb using small amounts of input DNA. TeSLA improves the specificity and efficiency of TL measurements that is facilitated by user friendly image-processing software to automatically detect and annotate band sizes, calculate average TL, as well as the percent of the shortest telomeres...
November 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28991645/lung-diseases-of-the-elderly-cellular-mechanisms
#16
REVIEW
Kori Ascher, Sharon J Elliot, Gustavo A Rubio, Marilyn K Glassberg
Natural lung aging is characterized by molecular and cellular changes in multiple lung cell populations. These changes include shorter telomeres, increased expression of cellular senescence markers, increased DNA damage, oxidative stress, apoptosis, and stem cell exhaustion. Aging, combined with the loss of protective repair processes, correlates with the development and incidence of chronic respiratory diseases, including idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease. Ultimately, it is the interplay of age-related changes in biology and the subsequent responses to environmental exposures that largely define the physiology and clinical course of the aging lung...
November 2017: Clinics in Geriatric Medicine
https://www.readbyqxmd.com/read/28987319/mitochondria-telomeres-and-cell-senescence-implications-for-lung-ageing-and-disease
#17
REVIEW
Jodie Birch, Peter J Barnes, Joao F Passos
Cellular senescence, the irreversible loss of replicative capacity in somatic cells, plays a causal role in the development of age-related pathology and in a number of age-related chronic inflammatory diseases. The ageing lung is marked by an increasing number of senescent cells, and evidence is mounting that senescence may directly contribute to a number of age-related respiratory diseases, including chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF). Telomere dysfunction and alterations in mitochondrial homeostasis frequently occur in cellular senescence and are important to the development of the often detrimental senescence-associated secretory phenotype (SASP)...
March 2018: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28983101/emerging-therapies-for-idiopathic-pulmonary-fibrosis-a-progressive-age-related-disease
#18
REVIEW
Ana L Mora, Mauricio Rojas, Annie Pardo, Moises Selman
Idiopathic pulmonary fibrosis (IPF) is a fatal age-associated disease that is characterized by progressive and irreversible scarring of the lung. The pathogenesis of IPF is not completely understood and current therapies are limited to those that reduce the rate of functional decline in patients with mild-to-moderate disease. In this context, new therapeutic approaches that substantially improve the survival time and quality of life of these patients are urgently needed. Our incomplete understanding of the pathogenic mechanisms of IPF and the lack of appropriate experimental models that reproduce the key characteristics of the human disease are major challenges...
November 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/28953687/association-between-regulator-of-telomere-elongation-helicase1-rtel1-gene-and-hape-risk-a-case-control-study
#19
Hao Rong, Xue He, Linhao Zhu, Xikai Zhu, Longli Kang, Li Wang, Yongjun He, Dongya Yuan, Tianbo Jin
High altitude pulmonary edema (HAPE) is a paradigm of pulmonary edema. Mutations in regulator of telomere elongation helicase1 (RTEL1) represent an important contributor to risk for pulmonary fibrosis. However, little information is found about the association between RTEL1 and HAPE risk. The present study was undertaken to tentatively explore the potential relation between single-nucleotide polymorphisms (SNPs) in RTEL1 and HAPE risk in Chinese Han population. A total of 265 HAPE patients and 303 healthy controls were included in our case-control study...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28923296/malignant-transformation-of-oral-leukoplakia-in-a-patient-with-dyskeratosis-congenita
#20
Michelle Bongiorno, Shayna Rivard, Daniel Hammer, Joshua Kentosh
Dyskeratosis congenita (DC) is a rare, inherited, bone marrow failure syndrome caused by premature telomere shortening. The classic mucocutaneous triad of clinical features comprises reticulated skin pigmentation, nail dysplasia, and oral leukoplakia. Multiple somatic features, including bone marrow failure, pulmonary fibrosis, and liver disease, are also common. DC significantly increases the risk for malignant transformation, including myelodysplastic syndrome, acute myeloid leukemia, head and neck squamous cell carcinoma, and anogenital cancer...
August 12, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
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