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Telomere and fibrosis

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https://www.readbyqxmd.com/read/27886850/cellular-senescence-and-autophagy-in-the-pathogenesis-of-chronic-obstructive-pulmonary-disease-copd-and-idiopathic-pulmonary-fibrosis-ipf
#1
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
#2
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
#3
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...
November 9, 2016: Gerontology
https://www.readbyqxmd.com/read/27799632/pulmonary-fibrosis-in-the-era-of-stratified-medicine
#4
REVIEW
Susan K Mathai, Chad A Newton, David A Schwartz, Christine Kim Garcia
Both common and rare variants contribute to the genetic architecture of pulmonary fibrosis. Genome-wide association studies have identified common variants, or those with a minor allele frequency of >5%, that are linked to pulmonary fibrosis. The most widely replicated variant (rs35705950) is located in the promoter region of the MUC5B gene and has been strongly associated with idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP) across multiple different cohorts. However, many more common variants have been identified with disease risk and in aggregate account for approximately one-third of the risk of IPF...
October 31, 2016: Thorax
https://www.readbyqxmd.com/read/27750347/-pan-cytopenia-as-first-manifestation-of-kryptic-telomeropathies-in-adults
#5
Karla Schmitt, Fabian Beier, Jens Panse, Tim H Brümmendorf
Telomere syndromes (syn. Telomeropathies) are inherited disorders hallmarked by accelerated telomere shortening based on a molecular defect within the telomerase/telomere complex. The rare, but well-defined model disorder Dyskeratosis congenita (DKC) characterized by typical skin manifestations and bone marrow failure represents the classical manifestation of telomere syndromes in childhood and adolescence. However, cryptic variants of DKC, clinically manifest through appearance of atypical bone marrow failure, lung fibrosis or liver cirrhosis - especially in adults up to the fifth decade of age - are frequently underdiagnosed...
October 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27699234/telomere-dysfunction-in-alveolar-epithelial-cells-causes-lung-remodeling-and-fibrosis
#6
Ram P Naikawadi, Supparerk Disayabutr, Benat Mallavia, Matthew L Donne, Gary Green, Janet L La, Jason R Rock, Mark R Looney, Paul J Wolters
Telomeres are short in type II alveolar epithelial cells (AECs) of patients with idiopathic pulmonary fibrosis (IPF). Whether dysfunctional telomeres contribute directly to development of lung fibrosis remains unknown. The objective of this study was to investigate whether telomere dysfunction in type II AECs, mediated by deletion of the telomere shelterin protein TRF1, leads to pulmonary fibrosis in mice (SPC-Cre TRF1(fl/fl) mice). Deletion of TRF1 in type II AECs for 2 weeks increased γH2AX DNA damage foci, but not histopathologic changes in the lung...
September 8, 2016: JCI Insight
https://www.readbyqxmd.com/read/27607446/allogeneic-hematopoietic-stem-cell-transplantation-for-dyskeratosis-congenita
#7
Shaimaa Elmahadi, Hideki Muramatsu, Seiji Kojima
PURPOSE OF REVIEW: Dyskeratosis congenita is an inherited bone marrow failure syndrome caused by defects in telomere maintenance. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure because of dyskeratosis congenita. The present review summarizes the literature with respect to the diagnosis and treatment of patients with dyskeratosis congenita who received HSCT, and discusses the recent progress in the management of dyskeratosis congenita...
November 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/27589328/association-of-donor-and-recipient-telomere-length-with-clinical-outcomes-following-lung-transplantation
#8
Andrew M Courtwright, Sabrina Fried, Julian A Villalba, Anna Moniodis, Indira Guleria, Isabelle Wood, Edgar Milford, Hari H Mallidi, Gary M Hunninghake, Benjamin A Raby, Suneet Agarwal, Philip C Camp, Ivan O Rosas, Hilary J Goldberg, Souheil El-Chemaly
BACKGROUND: Patients with short telomere syndromes and pulmonary fibrosis have increased complications after lung transplant. However, the more general impact of donor and recipient telomere length in lung transplant has not been well characterized. METHODS: This was an observational cohort study of patients who received lung transplant at a single center between January 1st 2012 and January 31st 2015. Relative donor lymphocyte telomere length was measured and classified into long (third tertile) and short (other tertiles)...
2016: PloS One
https://www.readbyqxmd.com/read/27540018/telomere-related-lung-fibrosis-is-diagnostically-heterogeneous-but-uniformly-progressive
#9
Chad A Newton, Kiran Batra, Jose Torrealba, Julia Kozlitina, Craig S Glazer, Carlos Aravena, Keith Meyer, Ganesh Raghu, Harold R Collard, Christine Kim Garcia
Heterozygous mutations in four telomere-related genes have been linked to pulmonary fibrosis, but little is known about similarities or differences of affected individuals.115 patients with mutations in telomerase reverse transcriptase (TERT) (n=75), telomerase RNA component (TERC) (n=7), regulator of telomere elongation helicase 1 (RTEL1) (n=14) and poly(A)-specific ribonuclease (PARN) (n=19) were identified and clinical data were analysed.Approximately one-half (46%) had a multidisciplinary diagnosis of idiopathic pulmonary fibrosis (IPF); others had unclassifiable lung fibrosis (20%), chronic hypersensitivity pneumonitis (12%), pleuroparenchymal fibroelastosis (10%), interstitial pneumonia with autoimmune features (7%), an idiopathic interstitial pneumonia (4%) and connective tissue disease-related interstitial fibrosis (3%)...
December 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27510903/loss-of-function-mutations-in-the-rna-biogenesis-factor-naf1-predispose-to-pulmonary-fibrosis-emphysema
#10
Susan E Stanley, Dustin L Gable, Christa L Wagner, Thomas M Carlile, Vidya Sagar Hanumanthu, Joshua D Podlevsky, Sara E Khalil, Amy E DeZern, Maria F Rojas-Duran, Carolyn D Applegate, Jonathan K Alder, Erin M Parry, Wendy V Gilbert, Mary Armanios
Chronic obstructive pulmonary disease and pulmonary fibrosis have been hypothesized to represent premature aging phenotypes. At times, they cluster in families, but the genetic basis is not understood. We identified rare, frameshift mutations in the gene for nuclear assembly factor 1, NAF1, a box H/ACA RNA biogenesis factor, in pulmonary fibrosis-emphysema patients. The mutations segregated with short telomere length, low telomerase RNA levels, and extrapulmonary manifestations including myelodysplastic syndrome and liver disease...
August 10, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27427394/telomeropathies-an-emerging-spectrum-of-disorders-with-important-implications-for-patients-with-interstitial-lung-disease
#11
Giulia M Stella, Elisabetta Balestro, Donato Lacedonia, Simonetta Baraldo
Growing evidence demonstrates that a number of clinical disorders may be related to genetic defects in telomere replication and extension. Overall, these syndromes are referred to as "telomeropathies" or "telomere disorders/syndromes"; they are increasingly being identified. In adulthood, idiopathic pulmonary fibrosis (IPF) is the most common symptom of telomeropathy. IPF is a progressive and fatal disease characterized by scarring of the lungs that thickens the interstitium ultimately leading to irreversible respiratory failure...
February 2016: Minerva Medica
https://www.readbyqxmd.com/read/27425647/tankyrase-as-a-novel-molecular-target-in-cancer-and-fibrotic-diseases
#12
Vijaya Lakshmi Tiruveedi, Swarna Bale, Amit Khurana, Chandraiah Godugu
Tankyrases belong to a group of enzymes called poly ADP ribosyl polymerases (PARPs). With the advent of a new class of small molecule inhibitors of PARP for clinical use like OLAPARIB; that gained accelerated approval by the USFDA in treating ovarian and breast cancers, the horizons of the PARPs as a novel target in various disease conditions has risen. Tankyrases (PARP 5) are yet another class of PARPs that perform poly ADP ribosylation on different substrate proteins aiding in progression of many diseases like cancer, fibrosis, diabetes and neurological disorders even...
July 15, 2016: Current Drug Targets
https://www.readbyqxmd.com/read/27362652/mir-34-mirnas-regulate-cellular-senescence-in-type-ii-alveolar-epithelial-cells-of-patients-with-idiopathic-pulmonary-fibrosis
#13
Supparerk Disayabutr, Eun Kyung Kim, Seung-Ick Cha, Gary Green, Ram P Naikawadi, Kirk D Jones, Jeffrey A Golden, Aaron Schroeder, Michael A Matthay, Jasleen Kukreja, David J Erle, Harold R Collard, Paul J Wolters
Pathologic features of idiopathic pulmonary fibrosis (IPF) include genetic predisposition, activation of the unfolded protein response, telomere attrition, and cellular senescence. The mechanisms leading to alveolar epithelial cell (AEC) senescence are poorly understood. MicroRNAs (miRNAs) have been reported as regulators of cellular senescence. Senescence markers including p16, p21, p53, and senescence-associated β-galactosidase (SA-βgal) activity were measured in type II AECs from IPF lungs and unused donor lungs...
2016: PloS One
https://www.readbyqxmd.com/read/27192671/danazol-treatment-for-telomere-diseases
#14
Danielle M Townsley, Bogdan Dumitriu, Delong Liu, Angélique Biancotto, Barbara Weinstein, Christina Chen, Nathan Hardy, Andrew D Mihalek, Shilpa Lingala, Yun Ju Kim, Jianhua Yao, Elizabeth Jones, Bernadette R Gochuico, Theo Heller, Colin O Wu, Rodrigo T Calado, Phillip Scheinberg, Neal S Young
BACKGROUND: Genetic defects in telomere maintenance and repair cause bone marrow failure, liver cirrhosis, and pulmonary fibrosis, and they increase susceptibility to cancer. Historically, androgens have been useful as treatment for marrow failure syndromes. In tissue culture and animal models, sex hormones regulate expression of the telomerase gene. METHODS: In a phase 1-2 prospective study involving patients with telomere diseases, we administered the synthetic sex hormone danazol orally at a dose of 800 mg per day for a total of 24 months...
May 19, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27103043/aging-and-pulmonary-fibrosis
#15
Moisés Selman, Ivette Buendía-Roldán, Annie Pardo
Idiopathic pulmonary fibrosis is a chronic, progressive, and usually fatal lung disorder of unknown etiology. The disease likely results from the interaction of genetic susceptibility architecture, environmental factors such as smoking, and an abnormal epigenetic reprogramming that leads to a complex pathogenesis. Idiopathic pulmonary fibrosis occurs in middle-aged and mainly elderly adults, and in this context age has emerged as its strongest risk factor. However, the mechanisms linking it to aging are uncertain...
March 2016: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/27103042/aging-kidney-transplantation
#16
Carlos G Musso, María C Giordani, Nora Imperiali
There are several immunological and non-immunological factors related to renal graft deterioration, and histological lesions such as interstitial fibrosis and tubular atrophy overlap with those observed in aging kidneys. Consequently, it has been proposed that kidney transplant senescence could contribute to graft loss. The process of cell senescence displays characteristics such as an increased expression of specific aging suppressor genes, shortened telomeres, mitochondrial changes, increased expression of negative regulators of the cell cycle, and immunological senescence...
March 2016: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/27088026/tinf2-gene-mutation-in-a-patient-with-pulmonary-fibrosis
#17
T W Hoffman, J J van der Vis, M F M van Oosterhout, H W van Es, D A van Kessel, J C Grutters, C H M van Moorsel
Pulmonary fibrosis is a frequent manifestation of telomere syndromes. Telomere gene mutations are found in up to 25% and 3% of patients with familial disease and sporadic disease, respectively. The telomere gene TINF2 encodes an eponymous protein that is part of the shelterin complex, a complex involved in telomere protection and maintenance. A TINF2 gene mutation was recently reported in a family with pulmonary fibrosis. We identified a heterozygous Ser245Tyr mutation in the TINF2 gene of previously healthy female patient that presented with progressive cough due to pulmonary fibrosis as well as panhypogammaglobulinemia at age 52...
2016: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/27065378/bilateral-proliferative-retinopathy-associated-with-hoyeraal-hreidarsson-syndrome-a-severe-form-of-dyskeratosis-congenita
#18
Michael J Allingham
Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These "telomeropathies" also include Hoyeraal-Hreidarsson syndrome (HH) and Revesz syndrome, which are severe forms of dyskeratosis congenita, as well as a subset of idiopathic pulmonary fibrosis, aplastic anemia, and Coats' plus syndrome. Retinopathy has only rarely been reported in DC and HH, but is universally present in Coats' plus and Revesz syndromes. The care of these patients is typically a multidisciplinary effort, and this should include monitoring by an ophthalmologist...
April 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/26999107/telomeres-nafld-and-chronic-liver-disease
#19
REVIEW
Benedetta Donati, Luca Valenti
Telomeres consist of repeat DNA sequences located at the terminal portion of chromosomes that shorten during mitosis, protecting the tips of chromosomes. During chronic degenerative conditions associated with high cell replication rate, progressive telomere attrition is accentuated, favoring senescence and genomic instability. Several lines of evidence suggest that this process is involved in liver disease progression: (a) telomere shortening and alterations in the expression of proteins protecting the telomere are associated with cirrhosis and hepatocellular carcinoma; (b) advanced liver damage is a feature of a spectrum of genetic diseases impairing telomere function, and inactivating germline mutations in the telomerase complex (including human Telomerase Reverse Transcriptase (hTERT) and human Telomerase RNA Component (hTERC)) are enriched in cirrhotic patients independently of the etiology; and (c) experimental models suggest that telomerase protects from liver fibrosis progression...
2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/26933959/telomeropathies-an-emerging-spectrum-of-disorders-with-important-implications-for-patients-with-interstitial-lung-disease
#20
Giulia M Stella, Elisabetta Balestro, Donato Lacedonia, Simonetta Baraldo
Growing evidence demonstrates that a number of clinical disorders may be related to genetic defects in telomere replication and extension. Overall, these syndromes are referred to as "telomeropathies" or "telomere disorders/syndromes"; they are increasingly being identified. In adulthood, idiopathic pulmonary fibrosis (IPF) is the most common symptom of telomeropathy. IPF is a progressive and fatal disease characterized by scarring of the lungs that thickens the interstitium ultimately leading to irreversible respiratory failure...
March 2, 2016: Minerva Medica
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