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JOURNAL ARTICLE
Tracy J Doyle, Pierre-Antoine Juge, Anna L Peljto, Seoyeon Lee, Avram D Walts, Anthony Joseph Esposito, Sergio Poli, Ritu Gill, Hiroto Hatabu, Mizuki Nishino, Paul F Dellaripa, Michael E Weinblatt, Nancy A Shadick, M Kristen Demoruelle, Jeffrey A Sparks, Ivan O Rosas, Benjamin Granger, Kevin D Deane, Bruno Crestani, Paul J Wolters, Philippe Dieudé, Joyce S Lee
Shortened telomere lengths (TLs) can be caused by single nucleotide polymorphisms and loss-of-function mutations in telomere-related genes (TRG), as well as ageing and lifestyle factors such as smoking. Our objective was to determine if shortened TL is associated with interstitial lung disease (ILD) in individuals with rheumatoid arthritis (RA). This is the largest study to demonstrate and replicate that shortened peripheral blood leukocytes-TL is associated with ILD in patients with RA compared with RA without ILD in a multinational cohort, and short PBL-TL was associated with baseline disease severity in RA-ILD as measured by forced vital capacity percent predicted...
January 18, 2024: Thorax
#22
JOURNAL ARTICLE
Dymph Klay, Karin M Kazemier, Joanne J van der Vis, Hidde M Smits, Jan C Grutters, Coline H M van Moorsel
In sporadic idiopathic pulmonary fibrosis (sIPF) and pulmonary fibrosis caused by a mutation in telomere (TRG-PF) or surfactant related genes (SRG-PF), there are a number of aberrant cellular processes known that can lead to fibrogenesis. We investigated whether RNA expression of genes involved in these processes differed between sIPF, TRG-PF, and SRG-PF and whether expression levels were associated with survival. RNA expression of 28 genes was measured in lung biopsies of 26 sIPF, 17 TRG-PF, and 6 SRG-PF patients...
November 25, 2023: International Journal of Molecular Sciences
#23
REVIEW
Alexandra-Simona Zamfir, Mihai Lucian Zabara, Raluca Ioana Arcana, Tudor Andrei Cernomaz, Andreea Zabara-Antal, Marius Traian Dragoș Marcu, Antigona Trofor, Carmen Lăcrămioara Zamfir, Radu Crișan-Dabija
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is one of the most aggressive forms of interstitial lung diseases (ILDs), marked by an ongoing, chronic fibrotic process within the lung tissue. IPF leads to an irreversible deterioration of lung function, ultimately resulting in an increased mortality rate. Therefore, the focus has shifted towards the biomarkers that might contribute to the early diagnosis, risk assessment, prognosis, and tracking of the treatment progress, including those associated with epithelial injury...
November 14, 2023: Journal of Personalized Medicine
#24
Monica M Yang, Seoyeon Lee, Jessica Neely, Monique Hinchcliff, Paul J Wolters, Marina Sirota
Aging and cellular senescence are increasingly recognized as key contributors to pulmonary fibrosis. However, our understanding in the context of scleroderma associated interstitial lung disease (SSc-ILD) is limited. To investigate, we leveraged previously established lung aging and cell-specific senescence signatures to determine their presence and potential relevance to SSc-ILD. We performed a gene expression meta-analysis of lung tissue from 38 SSc-ILD and 18 healthy controls and found markers (GDF15, COMP, CDKN2A) and pathways (p53) of senescence were significantly increased in SSc-ILD...
November 7, 2023: bioRxiv
#25
JOURNAL ARTICLE
Lv Liu, Hua Luo, Yue Sheng, Xi Kang, Hong Peng, Hong Luo, Liang-Liang Fan
Interstitial lung diseases (ILDs), or diffuse pulmonary lung disease, are a subset of lung diseases that primarily affect lung alveoli and the space around interstitial tissue and bronchioles. It clinically manifests as progressive dyspnea, and patients often exhibit a varied decrease in pulmonary diffusion function. Recently, variants in telomere biology-related genes have been identified as genetic lesions of ILDs. Here, we enrolled 82 patients with interstitial pneumonia from 2017 to 2021 in our hospital to explore the candidate gene mutations of these patients via whole-exome sequencing...
November 18, 2023: Hereditas
#26
JOURNAL ARTICLE
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a rare and devastating fibrotic lung disorder with unknown etiology. Although it is believed that genetic component is an important risk factor for IPF, a comprehensive understanding of its genetic landscape is lacking. Hence, we aimed to highlight the susceptibility genes and pathways implicated in IPF pathogenesis through a two-staged systematic literature search of genetic association studies on IPF, followed by meta-analysis and pathway enrichment analysis...
November 15, 2023: Gene
#27
JOURNAL ARTICLE
Mattia La Torre, Eleonora Centofante, Carmine Nicoletti, Romina Burla, Alessandro Giampietro, Federica Cannistrà, Leonardo Schirone, Valentina Valenti, Sebastiano Sciarretta, Antonio Musarò, Isabella Saggio
DNA damage is emerging as a driver of heart disease, although the cascade of events, its timing, and the cell types involved are yet to be fully clarified. In this context, the implication of cardiomyocytes has been highlighted, while that of vasculature smooth muscle cells has been implicated but not explored exhaustively. In our previous work we characterized a factor called Ft1 in mice and AKTIP in humans whose depletion generates telomere instability and DNA damage. Herein, we explored the effect of the reduction of Ft1 on the heart with the goal of comparatively defining the impact of DNA damage targeted to vasculature smooth muscle cells to that of diffuse damage...
November 13, 2023: Aging Cell
#28
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
#29
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
#30
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
#31
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
#32
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
#33
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
#34
JOURNAL ARTICLE
Nidhi Jalan-Sakrikar, Abid Anwar, Usman Yaqoob, Can Gan, Anthony B Lagnado, Alexander Q Wixom, Diana Jurk, Robert C Huebert
Cellular senescence and biliary fibrosis are prototypical features of obliterative cholangiopathies, such as Primary Sclerosing Cholangitis (PSC). Telomere dysfunction can lead to senescence either through telomere erosion or damaged telomeres. Our goal was to investigate a mechanistic relationship between telomere damage and biliary fibrosis in PSC. Telomere attrition was observed in the bile ducts of PSC patients along with a reduction in telomerase reverse transcriptase (TERT) expression compared to normal livers...
September 14, 2023: JCI Insight
#35
JOURNAL ARTICLE
Amélie Massemin, Delphine Goehrig, Jean-Michel Flaman, Sara Jaber, Audrey Griveau, Sophia Djebali, Elisabeth Marcos, Léa Payen, Jacqueline Marvel, Romain Parent, Serge Adnot, Philippe Bertolino, Jennifer Rieusset, Antonin Tortereau, David Vindrieux, David Bernard
Cellular senescence is induced by many stresses including telomere shortening, DNA damage, oxidative, or metabolic stresses. Senescent cells are stably cell cycle arrested and they secrete many factors including cytokines and chemokines. Accumulation of senescent cells promotes many age-related alterations and diseases. In this study, we investigated the role of the pro-senescent phospholipase A2 receptor 1 (PLA2R1) in regulating some age-related alterations in old mice and in mice subjected to a Western diet, whereas aged wild-type mice displayed a decreased ability to regulate their glycemia during glucose and insulin tolerance tests, aged Pla2r1 knockout (KO) mice efficiently regulated their glycemia and displayed fewer signs of aging...
September 4, 2023: Aging Cell
#36
JOURNAL ARTICLE
Norio Akuta, Yusuke Kawamura, Shunichiro Fujiyama, Hitomi Sezaki, Tetsuya Hosaka, Satoshi Saitoh, Mariko Kobayashi, Yasuji Arase, Kenji Ikeda, Yoshiyuki Suzuki, Hiromitsu Kumada, Fumitaka Suzuki
INTRODUCTION: Personalized medicine and molecular therapies with the diagnosis of somatic genetic alterations are expected to be developed for liver cancer. Nevertheless, it is unknown whether a mutation in the telomere reverse transcriptase promoter (TERT C228T) in serum cfDNA might be useful for making prognostic predictions after surgical resection for primary liver cancer. METHODS: This cohort study retrospectively investigated 111 patients who had undergone surgical resection of liver cancer for the first time...
2023: Oncology
#37
JOURNAL ARTICLE
John R Greenland, Ruyin Guo, Seoyeon Lee, Lily Tran, Bhavya Kapse, Jasleen Kukreja, Steven R Hays, Jeffrey A Golden, Daniel R Calabrese, Jonathan P Singer, Paul J Wolters
Primary graft dysfunction (PGD) is a major risk factor for chronic lung allograft dysfunction (CLAD) following lung transplantation, but the mechanisms linking these pathologies are poorly understood. We hypothesized that the replicative stress induced by PGD would lead to erosion of telomeres, and that this telomere dysfunction could potentiate CLAD. In a longitudinal cohort of 72 lung transplant recipients with >6 years median follow-up time, we assessed tissue telomere length, PGD grade, and freedom from CLAD...
December 2023: Journal of Heart and Lung Transplantation
#38
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
#39
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
#40
JOURNAL ARTICLE
Shuangjing Zhu, Mengtao Yang, Ting Wang, Zhen Ding
Background: Leukocyte telomere length and hepatic disorders have been linked in various research studies, although their causative association has not been clarified. This study investigated the causal relationship between the length of telomeres on peripheral blood leukocytes and certain liver disorders. Methods: Mendelian randomization (MR) analysis was used to examine the relationship between leukocyte telomere length and risk of liver disease using the publicly accessible worldwide gene-wide association study (GWAS) database...
2023: Frontiers in Genetics
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