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JOURNAL ARTICLE
Lauren G Banaszak, Kelcy Smith-Simmer, Kyle Shoger, Lauren Lovrien, Amy Malik, Nathan Sandbo, Samir Sultan, Robert Guzy, Erin Lowery, Jane E Churpek
INTRODUCTION: Patients with interstitial lung disease (ILD) secondary to telomere biology disorders (TBD) experience increased morbidity after lung transplantation. Identifying patients with TBD may allow for personalized management to facilitate better outcomes. However, establishing a TBD diagnosis in adults is challenging. METHODS: A TBD screening questionnaire was introduced prospectively into the lung transplant evaluation. Patients with ILD screening positive were referred for comprehensive TBD phenotyping and concurrent telomere length measurement and germline genetic testing...
November 9, 2023: Respiratory Medicine
#22
JOURNAL ARTICLE
Sabrina Sidali, Raphaël Borie, Flore Sicre de Fontbrune, Kinan El Husseini, Pierre-Emmanuel Rautou, Elodie Lainey, Odile Goria, Bruno Crestani, Jacques Cadrane, Vincent Cottin, Vincent Bune, Jérôme Dumortier, Emmanuel Jacquemin, Noémi Reboux, Sandrine Hirschi, Arnaud Bourdin, Magdalena Meszaros, Sebastien Dharancy, Sophie Hilaire, Vincent Mallet, Martine Reynaud-Gaubert, Louis Terriou, Frédéric Gottrand, Wadih Abou Chahla, Jean-Emmanuel Khan, Paul Carrier, Faouzi Saliba, Laura Rubbia-Brandt, John-David Aubert, Laure Elkrief, Victor de Lédinghen, Armand Abergel, Tournilhac Olivier, Pauline Houssel, Stephane Jouneau, Lidwine Wemeau, Anne Bergeron, Thierry Leblanc, Isabelle Ollivier-Hourmand, Eric Nguyen Khac, Hélène Morisse-Pradier, Ibrahima Ba, Catherine Boileau, Françoise Roudot-Thoraval, Valérie Vilgrain, Christophe Bureau, Hilario Nunes, Jean-Marc Naccache, François Durand, Claire Francoz, Dominique Roulot, Dominique Valla, Valérie Paradis, Caroline Kannengiesser, Aurélie Plessier
BACKGROUND AND AIM: Germline mutations of telomere-related genes (TRG) induce multiorgan dysfunction, and liver-specific manifestations have not been clearly outlined. We aimed to describe TRG mutations-associated liver diseases. APPROACH AND RESULTS: Retrospective multicentre analysis of liver disease (transaminases>30 IU/L and/or abnormal liver imaging) in patients with TRG mutations. Main measurements were characteristics, outcomes, and risk factors of liver disease in a TRG mutations cohort...
November 6, 2023: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
#23
REVIEW
Antero Salminen
Disruption of the extracellular matrix (ECM) and an accumulation of fibrotic lesions within tissues are two of the distinctive hallmarks of the aging process. Tissue fibroblasts are mesenchymal cells which display an impressive plasticity in the regulation of ECM integrity and thus on tissue homeostasis. Single-cell transcriptome studies have revealed that tissue fibroblasts exhibit a remarkable heterogeneity with aging and in age-related diseases. Excessive stress and inflammatory insults induce the differentiation of fibroblasts into myofibroblasts which are fusiform contractile cells and abundantly secrete the components of the ECM and proteolytic enzymes as well as many inflammatory mediators...
November 2, 2023: Biogerontology
#24
REVIEW
Ioannis Tomos, Ioannis Roussis, Andreas M Matthaiou, Katerina Dimakou
Idiopathic pulmonary fibrosis (IPF) represents a chronic progressive fibrotic interstitial lung disease of unknown cause with an ominous prognosis. It remains an unprecedent clinical challenge due to its delayed diagnosis and unpredictable clinical course. The need for accurate diagnostic, prognostic and predisposition biomarkers in everyday clinical practice becomes more necessary than ever to ensure prompt diagnoses and early treatment. The identification of such blood biomarkers may also unravel novel drug targets against IPF development and progression...
October 16, 2023: Biomedicines
#25
JOURNAL ARTICLE
John S Kim, Shwu-Fan Ma, Jennie Z Ma, Yong Huang, Catherine A Bonham, Justin M Oldham, Ayodeji Adegunsoye, Mary E Strek, Kevin R Flaherty, Emma Strickland, Inemesit Udofia, Joshua J Mooney, Shrestha Ghosh, Krishnarao Maddipati, Imre Noth
BACKGROUND: Pre-clinical experiments suggest protective effects of omega-3 fatty acids and their metabolites in lung injury and fibrosis. Whether higher intake of omega-3 fatty acids is associated with disease progression and survival in humans with pulmonary fibrosis is unknown. RESEARCH QUESTION: What are the associations of plasma omega-3 fatty acid levels (a validated marker of omega-3 nutritional intake) with disease progression and transplant-free survival in pulmonary fibrosis? STUDY DESIGN AND METHODS: Omega-3 fatty acid levels were measured from plasma samples of patients with clinically-diagnosed pulmonary fibrosis from the Pulmonary Fibrosis Foundation (PFF) Patient Registry (n=150), University of Virginia (UVA) (n=58), and University of Chicago (UC) (n=101) cohorts...
October 20, 2023: Chest
#26
JOURNAL ARTICLE
Thijs W Hoffman, Coline H M van Moorsel, Joanne J van der Vis, Douwe H Biesma, Jan C Grutters
BACKGROUND: Telomere dysfunction can underly the development of idiopathic pulmonary fibrosis (IPF), and recent work suggests that patients with telomere syndromes might benefit from treatment with androgens, such as danazol. METHODS: This was a prospective observational cohort study. 50 patients with IPF received off-label treatment with danazol after they showed progressive disease under treatment with pirfenidone or nintedanib. The primary outcome was the difference in yearly decline in forced vital capacity (FVC) prior to (pre) and after (post) start of treatment with danazol...
September 2023: ERJ Open Research
#27
JOURNAL ARTICLE
Stefan Cristian Stanel, Jack Callum, Pilar Rivera-Ortega
Within the wide scope of interstitial lung diseases (ILDs), familial pulmonary fibrosis (FPF) is being increasingly recognized as a specific entity, with earlier onset, faster progression, and suboptimal responses to immunosuppression. FPF is linked to heritable pathogenic variants in telomere-related genes (TRGs), surfactant-related genes (SRGs), telomere shortening (TS), and early cellular senescence. Telomere abnormalities have also been identified in some sporadic cases of fibrotic ILD. Air pollution and other environmental exposures carry additive risk to genetic predisposition in pulmonary fibrosis...
2023: Frontiers in Medicine
#28
JOURNAL ARTICLE
David Zhang, Ayodeji Adegunsoye, Justin M Oldham, Julia Kozlitina, Nicole Garcia, Maria Poonawalla, Rachel Strykowski, Angela L Linderholm, Brett Ley, Shwu-Fan Ma, Imre Noth, Mary E Strek, Paul J Wolters, Christine Kim Garcia, Chad A Newton
BACKGROUND: Studies suggest a harmful pharmacogenomic interaction exists between short leukocyte telomere length (LTL) and immunosuppressants in idiopathic pulmonary fibrosis (IPF). It remains unknown if a similar interaction exists in non-IPF interstitial lung disease (ILD). METHODS: A retrospective, multicentre cohort analysis was performed in fibrotic hypersensitivity pneumonitis (fHP), unclassifiable ILD (uILD) and connective tissue disease (CTD)-ILD patients from five centres...
November 2023: European Respiratory Journal
#29
JOURNAL ARTICLE
Mark E Snyder, Michaela R Anderson, Luke J Benvenuto, Rachel M Sutton, Anna Bondonese, Ritchie Koshy, Robin Burke, Sarah Clifford, Andrew Craig, Carlo J Iasella, Stefanie J Hannan, Iulia Popescu, Yingze Zhang, Pablo G Sanchez, Jonathan K Alder, John F McDyer
BACKGROUND: Most idiopathic pulmonary fibrosis (IPF) lung transplant recipients (IPF-LTRs) have short telomere (ST) length. Inherited mutations in telomere-related genes are associated with the development of T cell immunodeficiency. Despite this, IPF-LTRs with telomere-related rare variants are not protected from acute cellular rejection (ACR). We set out to determine the impact of both age and telomere length on the circulating T cell compartment and ACR burden of IPF-LTRs. METHODS: We identified 106 IPF-LTRs who had telomere length testing using flowFISH (57 with short telomeres and 49 with long telomeres) as well as a subset from both cohorts who had cryopreserved PBMC at least 1 time point, 6 months posttransplantation...
August 5, 2023: Journal of Heart and Lung Transplantation
#30
Michael Ghaly, Mark Ghaly, Samuel Harris
Clinical evidence demonstrates that patients with telomere biology disorders, such as dyskeratosis congenita, are more prone to coronary artery disease. We present the case of a 43-year-old female diagnosed with dyskeratosis congenita with critical cardiovascular disease. She underwent coronary artery bypass graft (CABG) with improvement of her cardiac function. Although this is a rare genetic disease, further studies are warranted to investigate the underlying pathophysiology of cardiovascular disease in patients with dyskeratosis congenita...
June 2023: Curēus
#31
JOURNAL ARTICLE
Yanli Yang, Yu Chen, Yang Liu, Zongdi Ning, Zhaoliang Zhang, Yan Zhang, Ke Xu, Liyun Zhang
Introduction: Pulmonary fibrosis (PF) is a severe disease that can lead to respiratory failure and even death. However, currently there is no effective treatment available for patients with PF. Mesenchymal stem cells (MSCs) have been recently shown to have therapeutic potential for PF. We analyzed the literature focused of MSCs and PF to provide a comprehensive understanding of the relationship between MSCs and PF. Methods: We searched the Web of Science Core Collection database for literature from 2002 through 2021 that involved MSCs and PF...
2023: Frontiers in Pharmacology
#32
JOURNAL ARTICLE
Haoxian Zhou, Chen Xie, Yujie Xie, Yunru He, Yanlian Chen, Canfeng Zhang, Yan Zhang, Yong Zhao, Haiying Liu
Premature telomere shortening is a known factor correlated to idiopathic pulmonary fibrosis (IPF) occurrence, which is a chronic, progressive, age-related disease with high mortality. The etiology of IPF is still unknown. Here, we found that UBQLN1 plays a key role in telomere length maintenance and is potentially relevant to IPF. UBQLN1 involves in DNA replication by interacting with RPA1 and shuttling it off from the replication fork. The deficiency of UBQLN1 retains RPA1 at replication fork, hinders replication and thus causes cell cycle arrest and genome instability...
July 18, 2023: PLoS Genetics
#33
JOURNAL ARTICLE
Paolo Spagnolo, Joyce S Lee
PURPOSE OF REVIEW: Genetics contributes substantially to the susceptibility to idiopathic pulmonary fibrosis (IPF). Genetic studies in sporadic and familial disease have identified several IPF-associated variants, mainly in telomere-related and surfactant protein genes.Here, we review the most recent literature on genetics of IPF and discuss how it may contribute to disease pathogenesis. RECENT FINDINGS: Recent studies implicate genes involved in telomere maintenance, host defence, cell growth, mammalian target of rapamycin signalling, cell-cell adhesion, regulation of TGF-β signalling and spindle assembly as biological processes involved in the pathogenesis of IPF...
July 7, 2023: Current Opinion in Pulmonary Medicine
#34
JOURNAL ARTICLE
Martina Doubková, Zuzana Vrzalová, Marianna Štefániková, Libor Červinek, Kateřina Staňo Kozubík, Ivona Blaháková, Šárka Pospíšilová, Michael Doubek
INTRODUCTION: Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders. CASE PRESENTATION: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of CTC1 gene (c.1360delG). This "frameshift" variant results in a premature stop codon and is classified as likely pathogenic/pathogenic. So far, this gene variant has been described in a heterozygous state in adult patients with hematological diseases such as idiopathic aplastic anemia or paroxysmal nocturnal hemoglobinuria, but also in interstitial pulmonary fibrosis...
January 17, 2023: Multidisciplinary Respiratory Medicine
#35
Samantha Chin-Yun Kung, Olivia Dixon, Sarah Kentwell, Raja S Vasireddy, Jonathan Rodgers, Yuming Ding, Tony Rahman, Caroline Tallis, Ian A Yang, John A Mackintosh
A 33-year-old man presented with acute dyspnoea and profound hypoxaemia, and had clubbing, greying of hair, orthodeoxia and fine inspiratory crackles. CT chest showed established pulmonary fibrosis in a usual interstitial pneumonia pattern. Additional investigations revealed a small patent foramen ovale, pancytopenia, and oesophageal varices and portal hypertensive gastropathy from liver cirrhosis. Telomere length testing demonstrated short telomeres (<1st percentile), confirming the diagnosis of a telomere biology disorder...
August 2023: Respirology Case Reports
#36
JOURNAL ARTICLE
Stefanie J Hannan, Carlo J Iasella, Rachel M Sutton, Iulia D Popescu, Ritchie Koshy, Robin Burke, Xiaoping Chen, Yingze Zhang, Joseph M Pilewski, Chadi A Hage, Pablo G Sanchez, Annie Im, Rafic Farah, Jonathan K Alder, John F McDyer
Idiopathic pulmonary fibrosis lung transplant recipients (IPF-LTRs) are enriched for short telomere length (TL) and telomere gene rare variants. A subset of patients with nontransplant short-TL are at increased risk for bone marrow (BM) dysfunction. We hypothesized that IPF-LTRs with short-TL and/or rare variants would be at increased risk for posttransplant hematologic complications. Data were extracted from a retrospective cohort of 72 IPF-LTRs and 72 age-matched non-IPF-LTR controls. Genetic assessment was done using whole genome sequencing or targeted sequence panel...
June 29, 2023: American Journal of Transplantation
#37
MULTICENTER STUDY
Laura Bergantini, Margherita Baldassarri, Miriana d'Alessandro, Giulia Brunelli, Gaia Fabbri, Kristina Zguro, Andrea Degl'Innocenti, Chiara Fallerini, Elena Bargagli, Alessandra Renieri
BACKGROUND: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is a novel coronavirus that caused an ongoing pandemic of a pathology termed Coronavirus Disease 19 (COVID-19). Several studies reported that both COVID-19 and RTEL1 variants are associated with shorter telomere length, but a direct association between the two is not generally acknowledged. Here we demonstrate that up to 8.6% of severe COVID-19 patients bear RTEL1 ultra-rare variants, and show how this subgroup can be recognized...
June 16, 2023: Respiratory Research
#38
JOURNAL ARTICLE
Paula Martínez, Raúl Sánchez-Vazquez, Arpita Saha, Maria S Rodriguez-Duque, Sara Naranjo-Gonzalo, Joy S Osorio-Chavez, Ana V Villar-Ramos, Maria A Blasco
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the coronavirus disease 2019 (COVID-19) pandemic. The severity of COVID-19 increases with each decade of life, a phenomenon that suggest that organismal aging contributes to the fatality of the disease. In this regard, we and others have previously shown that COVID-19 severity correlates with shorter telomeres, a molecular determinant of aging, in patient's leukocytes. Lung injury is a predominant feature of acute SARS-CoV-2 infection that can further progress to lung fibrosis in post-COVID-19 patients...
June 7, 2023: Aging
#39
REVIEW
Boran Chen, Yushun Yan, Haoran Wang, Jianguo Xu
Emerging evidence has shown that leukocyte telomere length (LTL) is associated with various health-related outcomes, while the causality of these associations remains unclear. We performed a systematic review and meta-analysis of current evidence from Mendelian randomization (MR) studies on the association between LTL and health-related outcomes. We searched PubMed, Embase, and Web of Science up to April 2022 to identify eligible MR studies. We graded the evidence level of each MR association based on the results of the main analysis and four sensitive MR methods, MR-Egger, weighted median, MR-PRESSO, and multivariate MR...
May 26, 2023: Aging Cell
#40
REVIEW
Li-Li Ren, Hua Miao, Yan-Ni Wang, Fei Liu, Ping Li, Ying-Yong Zhao
Fibrosis is the abnormal accumulation of extracellular matrix proteins such as collagen and fibronectin. Aging, injury, infections, and inflammation can cause different types of tissue fibrosis. Numerous clinical investigations have shown a correlation between the degree of liver and pulmonary fibrosis in patients and telomere length and mitochondrial DNA content, both of which are signs of aging. Aging involves the gradual loss of tissue function over time, which results in the loss of homeostasis and, ultimately, an organism's fitness...
March 2, 2023: Aging and Disease
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