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Telomere and pulmonary fibrosis

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https://www.readbyqxmd.com/read/28648751/the-muc5b-promoter-polymorphism-and-telomere-length-in-patients-with-chronic-hypersensitivity-pneumonitis-an-observational-cohort-control-study
#1
Brett Ley, Chad A Newton, Isabel Arnould, Brett M Elicker, Travis S Henry, Eric Vittinghoff, Jeffrey A Golden, Kirk D Jones, Kiran Batra, Jose Torrealba, Christine Kim Garcia, Paul J Wolters
BACKGROUND: Patients with hypersensitivity pneumonitis are at risk of developing pulmonary fibrosis, which is associated with reduced survival. In families with multiple affected members, individuals might be diagnosed as having idiopathic pulmonary fibrosis (IPF) or chronic (fibrotic) hypersensitivity pneumonitis, which suggests these disorders share risk factors. We aimed to test whether the genomic risk factors associated with the development and progression of IPF are also associated with the development of fibrosis and reduced survival in people with chronic hypersensitivity pneumonitis...
June 22, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#2
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28507545/clinical-and-molecular-heterogeneity-of-rtel1-deficiency
#3
Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J J Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R Ehl, Charlotte Niemeyer, Kaan Boztug, Marcin W Wlodarski
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can add to disease severity. RTEL1 deficiency has recently been described as a major genetic etiology, but the molecular basis and clinical consequences of RTEL1-associated DC are incompletely characterized. We report our observations in a cohort of six patients: five with novel biallelic RTEL1 mutations p...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28495692/shared-genetic-predisposition-in-rheumatoid-arthritis-interstitial-lung-disease-and-familial-pulmonary-fibrosis
#4
Pierre-Antoine Juge, Raphaël Borie, Caroline Kannengiesser, Steven Gazal, Patrick Revy, Lidwine Wemeau-Stervinou, Marie-Pierre Debray, Sébastien Ottaviani, Sylvain Marchand-Adam, Nadia Nathan, Gabriel Thabut, Christophe Richez, Hilario Nunes, Isabelle Callebaut, Aurélien Justet, Nicolas Leulliot, Amélie Bonnefond, David Salgado, Pascal Richette, Jean-Pierre Desvignes, Huguette Lioté, Philippe Froguel, Yannick Allanore, Olivier Sand, Claire Dromer, René-Marc Flipo, Annick Clément, Christophe Béroud, Jean Sibilia, Baptiste Coustet, Vincent Cottin, Marie-Christophe Boissier, Benoit Wallaert, Thierry Schaeverbeke, Florence Dastot le Moal, Aline Frazier, Christelle Ménard, Martin Soubrier, Nathalie Saidenberg, Dominique Valeyre, Serge Amselem, Catherine Boileau, Bruno Crestani, Philippe Dieudé
Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF) and RA-ILD frequently share the usual pattern of interstitial pneumonia and common environmental risk factors, we hypothesised that the two diseases might share additional risk factors, including FPF-linked genes. Our aim was to identify coding mutations of FPF-risk genes associated with RA-ILD.We used whole exome sequencing (WES), followed by restricted analysis of a discrete number of FPF-linked genes and performed a burden test to assess the excess number of mutations in RA-ILD patients compared to controls...
May 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28446600/management-of-suspected-monogenic-lung-fibrosis-in-a-specialised-centre
#5
Raphael Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani
At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis.Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression...
June 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28431248/spontaneous-chitin-accumulation-in-airways-and-age-related-fibrotic-lung-disease
#6
Steven J Van Dyken, Hong-Erh Liang, Ram P Naikawadi, Prescott G Woodruff, Paul J Wolters, David J Erle, Richard M Locksley
The environmentally widespread polysaccharide chitin is degraded and recycled by ubiquitous bacterial and fungal chitinases. Although vertebrates express active chitinases from evolutionarily conserved loci, their role in mammalian physiology is unclear. We show that distinct lung epithelial cells secrete acidic mammalian chitinase (AMCase), which is required for airway chitinase activity. AMCase-deficient mice exhibit premature morbidity and mortality, concomitant with accumulation of environmentally derived chitin polymers in the airways and expression of pro-fibrotic cytokines...
April 20, 2017: Cell
https://www.readbyqxmd.com/read/28318743/broadening-the-investigation-short-telomeres-and-lung-transplantation-outcomes-in-pulmonary-fibrosis
#7
EDITORIAL
Andrew Courtwright, Souheil El-Chemaly
No abstract text is available yet for this article.
February 28, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28289249/control-of-cellular-aging-tissue-function-and-cancer-by-p53-downstream-of-telomeres
#8
Caitlin M Roake, Steven E Artandi
Telomeres, the nucleoprotein complex at the ends of eukaryotic chromosomes, perform an essential cellular role in part by preventing the chromosomal end from initiating a DNA-damage response. This function of telomeres can be compromised as telomeres erode either as a consequence of cell division in culture or as a normal part of cellular ageing in proliferative tissues. Telomere dysfunction in this context leads to DNA-damage signaling and activation of the tumor-suppressor protein p53, which then can prompt either cellular senescence or apoptosis...
March 13, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28262440/telomere-length-in-patients-with-pulmonary-fibrosis-associated-with-chronic-lung-allograft-dysfunction-and-post-lung-transplantation-survival
#9
Chad A Newton, Julia Kozlitina, Jefferson R Lines, Vaidehi Kaza, Fernando Torres, Christine Kim Garcia
BACKGROUND: Prior studies have shown that patients with pulmonary fibrosis with mutations in the telomerase genes have a high rate of certain complications after lung transplantation. However, few studies have investigated clinical outcomes based on leukocyte telomere length. METHODS: We conducted an observational cohort study of all patients with pulmonary fibrosis who underwent lung transplantation at a single center between January 1, 2007, and December 31, 2014...
February 4, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28254828/telomere-driven-diseases-and-telomere-targeting-therapies
#10
REVIEW
Paula Martínez, Maria A Blasco
Telomeres, the protective ends of linear chromosomes, shorten throughout an individual's lifetime. Telomere shortening is proposed to be a primary molecular cause of aging. Short telomeres block the proliferative capacity of stem cells, affecting their potential to regenerate tissues, and trigger the development of age-associated diseases. Mutations in telomere maintenance genes are associated with pathologies referred to as telomere syndromes, including Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic anemia, and liver fibrosis...
April 3, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28192371/somatic-mutations-in-telomerase-promoter-counterbalance-germline-loss-of-function-mutations
#11
Lindley Maryoung, Yangbo Yue, Ashley Young, Chad A Newton, Cindy Barba, Nicolai S C van Oers, Richard C Wang, Christine Kim Garcia
Germline coding mutations in different telomere-related genes have been linked to autosomal-dominant familial pulmonary fibrosis. Individuals with these inherited mutations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, blood, liver, skin, and other organs. Here, we describe the somatic acquisition of promoter mutations in telomerase reverse transcriptase (TERT) in blood leukocytes of approximately 5% of individuals with inherited loss-of-function coding mutations in TERT or poly(A)-specific ribonuclease (PARN), another gene linked to telomerase function...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28154186/structural-analysis-reveals-the-deleterious-effects-of-telomerase-mutations-in-bone-marrow-failure-syndromes
#12
Hunter Hoffman, Cory Rice, Emmanuel Skordalakes
Naturally occurring mutations in the ribonucleoprotein reverse transcriptase, telomerase, are associated with the bone marrow failure syndromes dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fibrosis. However, the mechanism by which these mutations impact telomerase function remains unknown. Here we present the structure of the human telomerase C-terminal extension (or thumb domain) determined by the method of single-wavelength anomalous diffraction to 2.31 Å resolution. We also used direct telomerase activity and nucleic acid binding assays to explain how naturally occurring mutations within this portion of telomerase contribute to human disease...
March 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28145905/mitochondria-in-the-spotlight-of-aging-and-idiopathic-pulmonary-fibrosis
#13
REVIEW
Ana L Mora, Marta Bueno, Mauricio Rojas
Idiopathic pulmonary fibrosis (IPF) is a chronic age-related lung disease with high mortality that is characterized by abnormal scarring of the lung parenchyma. There has been a recent attempt to define the age-associated changes predisposing individuals to develop IPF. Age-related perturbations that are increasingly found in epithelial cells and fibroblasts from IPF lungs compared with age-matched cells from normal lungs include defective autophagy, telomere attrition, altered proteostasis, and cell senescence...
February 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28099038/an-exome-sequencing-study-to-assess-the-role-of-rare-genetic-variation-in-pulmonary-fibrosis
#14
Slavé Petrovski, Jamie L Todd, Michael T Durheim, Quanli Wang, Jason W Chien, Fran L Kelly, Courtney Frankel, Caroline M Mebane, Zhong Ren, Joshua Bridgers, Thomas J Urban, Colin D Malone, Ashley Finlen Copeland, Christie Brinkley, Andrew S Allen, Thomas O'Riordan, John G McHutchison, Scott M Palmer, David B Goldstein
RATIONALE: Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology. OBJECTIVES: The aim of this study was to use whole-exome sequencing to improve our understanding of the genetic architecture of pulmonary fibrosis. METHODS: We performed a case-control exome-wide collapsing analysis including 262 unrelated individuals with pulmonary fibrosis; clinically classified as IPF according to ATS/ERS/JRS/ALAT guidelines (81...
January 18, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28035951/a-systematic-review-of-the-role-of-dysfunctional-wound-healing-in-the-pathogenesis-and-treatment-of-idiopathic-pulmonary-fibrosis
#15
REVIEW
Alan Betensley, Rabab Sharif, Dimitrios Karamichos
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial lung disorder showcasing an interaction between genetic predisposition and environmental risks. This usually involves the coaction of a mixture of cell types associated with abnormal wound healing, leading to structural distortion and loss of gas exchange function. IPF bears fatal prognosis due to respiratory failure, revealing a median survival of approximately 2 to 3 years. This review showcases the ongoing progress in understanding the complex pathophysiology of IPF and it highlights the latest potential clinical treatments...
December 26, 2016: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28005428/telomerase-and-the-genetics-of-emphysema-susceptibility-implications-for-pathogenesis-paradigms-and-patient-care
#16
Susan E Stanley, Samantha J Merck, Mary Armanios
In the past five decades, alpha-1 antitrypsin deficiency has been the only known genetic cause of emphysema, yet it explains the genetics in only 1-2% of severe cases. Recently, mutations in telomerase genes were found to induce susceptibility to young-onset, severe, and familial emphysema at a frequency comparable to that of alpha-1 antitrypsin deficiency. Telomerase mutation carriers with emphysema report a family history of idiopathic pulmonary fibrosis, and both lung phenotypes show autosomal dominant inheritance within families...
December 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28005427/lung-fibroblasts-aging-and-idiopathic-pulmonary-fibrosis
#17
Annie Pardo, Moisés Selman
Idiopathic pulmonary fibrosis (IPF) is an aging-associated, progressive, and irreversible lung disease of unknown etiology, elusive pathogenesis, and very limited therapeutic options. The hallmarks of IPF are aberrant activation of alveolar epithelial cells and accumulation of fibroblasts and myofibroblasts along with excessive production of extracellular matrix. The linkage of aging with this disorder is uncertain, but a number of changes associated with aging, including telomere attrition, cell senescence, and mitochondrial dysfunction, have been revealed in IPF lungs...
December 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27886850/cellular-senescence-and-autophagy-in-the-pathogenesis-of-chronic-obstructive-pulmonary-disease-copd-and-idiopathic-pulmonary-fibrosis-ipf
#18
REVIEW
Kazuyoshi Kuwano, Jun Araya, Hiromichi Hara, Shunsuke Minagawa, Naoki Takasaka, Saburo Ito, Kenji Kobayashi, Katsutoshi Nakayama
Aging is associated with impairments in homeostasis. Although aging and senescence are not equivalent, the number of senescent cells increases with aging. Cellular senescence plays important roles in tissue repair or remodeling, as well as embryonic development. Autophagy is a process of lysosomal self-degradation that maintains a homeostatic balance between the synthesis, degradation, and recycling of cellular proteins. Autophagy diminishes with aging; additionally, accelerated aging can be attributed to reduced autophagy...
November 2016: Respiratory Investigation
https://www.readbyqxmd.com/read/27836952/prevalence-and-characteristics-of-tert-and-terc-mutations-in-suspected-genetic-pulmonary-fibrosis
#19
Raphael Borie, Laure Tabèze, Gabriel Thabut, Hilario Nunes, Vincent Cottin, Sylvain Marchand-Adam, Grégoire Prevot, Abdellatif Tazi, Jacques Cadranel, Herve Mal, Lidwine Wemeau-Stervinou, Anne Bergeron Lafaurie, Dominique Israel-Biet, Clement Picard, Martine Reynaud Gaubert, Stephane Jouneau, Jean-Marc Naccache, Julie Mankikian, Christelle Ménard, Jean-François Cordier, Dominique Valeyre, Marion Reocreux, Bernard Grandchamp, Patrick Revy, Caroline Kannengiesser, Bruno Crestani
Telomerase reverse transcriptase (TERT) or telomerase RNA (TERC) gene mutation is a major monogenic cause of pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis.We retrospectively analysed all the genetic diagnoses made between 2007-2014 in patients with pulmonary fibrosis. We evaluated the prevalence of TERT/TERC disease-associated variant (DAV), factors associated with a DAV, and the impact of the DAV on survival...
December 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27825158/regeneration-of-the-aging-lung-a-mini-review
#20
Sonia Navarro, Barbara Driscoll
Natural lung aging is marked by molecular changes that occur during development, maturation, and late-life decline. At the cellular and whole organ level, degenerative changes that are a hallmark of natural aging (shorter telomeres, increased expression of cellular senescence markers, increased DNA damage, oxidative stress, and apoptosis, accompanied by diminished elasticity) reach pathological levels in aging humans in the form of chronic respiratory disease. Aging strongly correlates with the development and incidence of chronic respiratory diseases, including cancer and idiopathic pulmonary fibrosis, but is most strongly linked with development of chronic obstructive pulmonary disease...
2017: Gerontology
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