Article
Cell Biology
Claudia Sacchetto, Zenab Mohseni, Robin M. W. Colpaert, Libero Vitiello, Marzia De Bortoli, Indira G. C. Vonhogen, Ke Xiao, Giulia Poloni, Alessandra Lorenzon, Chiara Romualdi, Riccardo Bariani, Elisa Mazzotti, Luciano Daliento, Barbara Bauce, Domenico Corrado, Thomas Thum, Alessandra Rampazzo, Leon J. de Windt, Martina Calore
Summary: The study identified miR-185-5p as significantly upregulated in ARVC patients compared to healthy controls, with a confirmed link to ARVC pathophysiology based on receiver operating characteristic analysis.
Article
Biochemistry & Molecular Biology
Natalia Baulina, Maria Pisklova, Ivan Kiselev, Olga Chumakova, Dmitry Zateyshchikov, Olga Favorova
Summary: This study analyzed the levels of miRNAs in the plasma of hypertrophic cardiomyopathy (HCM) patients and identified miR-499a-5p as a dysregulated miRNA in HCM. Further investigation showed that carriers of pathogenic/likely pathogenic variants in the MYH7 gene had higher levels of miR-499a-5p compared to controls and carriers of MYBPC3 gene variants. The study suggests that miR-499a-5p could serve as a circulating biomarker for HCM caused by MYH7 gene variants.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Ganna Aleshcheva, Christian Baumeier, Dominik Harms, C. -Thomas Bock, Felicitas Escher, Heinz-Peter Schultheiss
Summary: This study assessed miRNAs in virus-negative inflammatory dilated cardiomyopathy (DCMi) patients and found that miR-1, miR-23, miR-142-5p, miR-155, miR-193, and miR-195 were down-regulated in DCMi patients. These miRNAs effectively differentiated inflammation unlinked to viruses (DCMi) from other participant groups, with a specificity exceeding 86%.
Article
Oncology
Liyi Xu, Yangke Cai, Xiao Chen, Yongliang Zhu, Jianting Cai
Summary: The study suggests that circulating miR-1290 may serve as a potential biomarker for diagnosis and monitoring of gastrointestinal cancer. This miRNA is expressed and secreted by gastrointestinal tumor cells, associated with various clinical characteristics, and provides different levels of sensitivity and specificity in different cancer types.
Article
Cardiac & Cardiovascular Systems
Yang Su, Yuxi Sun, Yansong Tang, Hao Li, Xiaoyu Wang, Xin Pan, Weijing Liu, Xianling Zhang, Fenglei Zhang, Yawei Xu, Chunxi Yan, Sang-Bing Ong, Dachun Xu
Summary: The study identified miR-19b-3p as a valuable prognostic biomarker for AHF patients, indicating ventricular hypertrophy and correlating with echocardiographic indexes.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Oncology
Xueyang Cui, Zhi Lv, Hanxi Ding, Chengzhong Xing, Yuan Yuan
Summary: miR-1539 is significantly up-regulated in exosomes and cancer tissues of colorectal cancer patients. Its expression levels in serum vary depending on tumor location. It can be used as a novel potential biomarker for colorectal cancer screening and a predictor of poor clinicopathological behavior in tumors.
FRONTIERS IN ONCOLOGY
(2021)
Article
Medicine, General & Internal
Jingjing Jing, Miao Chang, Shuyi Jiang, Tianlong Wang, Qiuyan Sun, Jun Yang, Chunyan Ma, Tan Li
Summary: The serum level of miR-1-3p was significantly decreased in AAA patients and negatively correlated with inflammatory markers and aneurysm dimensions. MiR-1-3p can be used as a diagnostic biomarker for AAA and plays a crucial role in the development of AAA.
ANNALS OF MEDICINE
(2023)
Article
Oncology
Akanksha Khandelwal, Uttam Sharma, Tushar Singh Barwal, Rajeev Kumar Seam, Manish Gupta, Manjit Kaur Rana, Karen M. Vasquez, Aklank Jain
Summary: The study found that circulating miR-320a levels were significantly down-regulated in patients with non-small cell lung cancer (NSCLC) and were associated with clinical characteristics such as tumor size, TNM stage, and lymph node metastasis. MiR-320a has a tumor-suppressive role in lung cancer by inhibiting tumor growth and metastasis, with AKT3 signaling pathways being activated in NSCLC due to down-regulated miR-320a levels.
FRONTIERS IN ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Stephanie M. van der Voorn, Mimount Bourfiss, Steven A. Muller, Tolga Cimen, Ardan M. Saguner, Firat Duru, Anneline S. J. M. te Riele, Carol Ann Remme, Toon A. B. van Veen
Summary: Arrhythmogenic cardiomyopathy (ACM) is characterized by a fibro-(fatty) replacement of the myocardium. However, current cardiac imaging modalities have limitations in detecting fibrosis patterns. In this study, serum samples were collected from 45 ACM patients and the levels of PICP and ICTP were measured. The results showed that diagnosed patients had higher levels of PICP and PICP/ICTP compared to preclinical variant carriers, indicating an increased collagen deposition. Furthermore, negative correlations were found between PICP/ICTP ratio and right ventricular ejection fractions, as well as significant correlations with left ventricular function. These findings suggest that PICP/ICTP levels may serve as potential biomarkers for ACM.
Article
Health Care Sciences & Services
Jean-Baptiste Reisqs, Adrien Moreau, Yvonne Sleiman, Azzouz Charrabi, Antoine Deliniere, Francis Bessiere, Kevin Gardey, Sylvain Richard, Philippe Chevalier
Summary: Arrhythmogenic cardiomyopathy (ACM) is a rare genetic disease that leads to ventricular arrhythmias due to electrophysiological remodeling of cardiomyocytes. Spironolactone (SP), a mineralocorticoid receptor antagonist, has been found to reduce arrhythmias by blocking K+ channels. In this study, SP and its metabolite canrenoic acid (CA) were shown to correct abnormal action potential duration (APD) and Ca2+ homeostasis in cardiomyocytes derived from a patient with a specific mutation in the DSC2 gene. These findings provide a potential therapeutic approach for treating ACM patients by targeting mechanical and electrical burdens.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Oncology
Kodai Nakamura, Naomi Hiyake, Tomofumi Hamada, Seiya Yokoyama, Kazuki Mori, Kouta Yamashiro, Mahiro Beppu, Yasuaki Sagara, Yoshiaki Sagara, Tsuyoshi Sugiura
Summary: The study identified a combination of six microRNAs that could accurately distinguish oral squamous cell carcinoma (OSCC) from the control group with a higher degree of accuracy compared to traditional serum tumor markers like SCC-Ag. This specific microRNA panel may serve as a novel candidate biomarker for oral cancer diagnosis.
Article
Cell Biology
Isabel Moscoso, Maria Cebro-Marquez, Alvaro Martinez-Gomez, Charigan Abou-Jokh, Maria Amparo Martinez-Monzonis, Jose Luis Martinez-Sande, Laila Gonzalez-Melchor, Javier Garcia-Seara, Xesus Alberte Fernandez-Lopez, Sandra Morana-Fernandez, Jose R. Gonzalez-Juanatey, Moises Rodriguez-Manero, Ricardo Lage
Summary: The differences in circulating miRNA may contribute to prognostic stratification of patients undergoing cardiac resynchronization therapy, and the preimplant cardiac context and remodeling response are key factors for therapeutic success.
Article
Biochemistry & Molecular Biology
Helen E. Driessen, Stephanie M. van der Voorn, Mimount Bourfiss, Freyja H. M. van Lint, Ferogh Mirzad, Laila El Onsri, Marc A. Vos, Toon A. B. van Veen
Summary: In arrhythmogenic cardiomyopathy, pathogenic variants are found in genes encoding desmosomal proteins and non-desmosomal genes. Plakoglobin protein levels and localization are disturbed in ACM patients and PLN p.Arg14del patients. BMC can serve as a non-invasive tool with promising potential for ACM diagnosis, as plakoglobin levels are significantly reduced in ACM patients. However, interindividual variability makes it difficult to distinguish true patients from carriers and controls.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Food Science & Technology
Da-Bin Hwang, Yoojin Seo, Eunji Lee, Dong-hoon Won, Changuk Kim, MinHwa Kang, Young Jeon, Hyung-Sik Kim, Jun Won Park, Jun-Won Yun
Summary: Evaluation of tissue injury currently relies on serum biochemical analysis, which lacks tissue specificity and sensitivity. MicroRNAs (miRNAs) have been proposed as potential diagnostic tools to overcome these limitations, as tissue-enriched miRNAs can be detected in the blood after tissue injury. In this study, we screened specific patterns of altered hepatic miRNAs and their target mRNAs in cisplatin-injected rats, and identified novel liver-specific circulating miRNAs for drug-induced liver injury. Comparative analyses of miRNA expression changes in organs and serum were conducted, and miR-532-3p was identified as a potential serum biomarker for drug-induced liver injury.
FOOD AND CHEMICAL TOXICOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Atefeh Mohammadloo, Yazdan Asgari, Aghil Esmaeili-Bandboni, Mohammad Ali Mazloomi, Seyedeh Fatemeh Ghasemi, Sima Ameri, Seyed Rouhollah Miri, Shahin Hamzelou, Hamid Reza Mahmoudi, Ziba Veisi-Malekshahi
Summary: The study investigated the use of microRNAs as biomarkers for early diagnosis of melanoma. Through analysis of gene expression datasets and PCR experiments, it was found that miR-193b and miR-146b-3p were downregulated in melanoma patients' plasma, while miR-483-3p was upregulated. ROC curve analysis confirmed that miR-193b and miR-146b-3p had high discriminatory power, making them suitable for noninvasive early diagnosis of melanoma.
MOLECULAR BIOTECHNOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Carla Carnovale, Cristiana Perrotta, Sara Baldelli, Dario Cattaneo, Cristina Montrasio, Silvia S. Barbieri, Giulio Pompilio, Chiara Vantaggiato, Emilio Clementi, Marco Pozzi
Summary: There is a bidirectional relationship between hypertension and psychiatric disorders, and the repurposing of antihypertensive drugs to treat mental disorders is being explored. However, the mechanisms and clinical consequences of the use of these drugs on neuropsychiatric functions are not yet fully understood. This article reviews the potential role of antihypertensive agents in psychiatric disorders, discusses their targets and mechanisms of action, and examines the extent to which specific drug classes/molecules may affect psychiatric symptoms.
CARDIOVASCULAR RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Melissa S. Carroll, Mauro Giacca
Summary: CRISPR activation and interference technology has the potential for regulated gene expression, which can be applied for both investigative purposes and therapeutic development. However, the application of this technology is still in its early stage and requires improvements in transcriptional regulators selection, delivery and expression in vivo.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ilaria Massaiu, Jeness Campodonico, Massimo Mapelli, Elisabetta Salvioni, Vincenza Valerio, Donato Moschetta, Veronika A. Myasoedova, Maria Domenica Cappellini, Giulio Pompilio, Paolo Poggio, Piergiuseppe Agostoni
Summary: By analyzing the gene expression profiles of iron-linked genes at the tissue and single-cell level in heart failure patients, it was found that the iron metabolism in cardiomyocytes is altered, including imbalanced iron ion internalization, decreased internal conversion, increased hemoglobin synthesis, elevated heme externalization, reduced heme cleavage, and up-regulated hepcidin.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Physiology
Antoine Raberin, Sarah J. Willis, Thomas Richard, Joakim Elmer, Gianluca Vernillo, F. Marcello Iaia, Olivier Girard, Davide Malatesta, Gregoire P. Millet
Summary: This study compared the psychophysiological responses of repeated cycling sprints to exhaustion with a short exercise-to-rest ratio (1:6) between different effort durations and inspired oxygen fractions. The results showed that the number of sprints and peak power output decreased, while blood lactate increased during the 5:30 exercise compared to longer durations. However, oxygen fractions and exercise-related sensation did not affect blood lactate levels. Muscle deoxyhemoglobin increased and total hemoglobin decreased with increasing sprint duration. The study concluded that oxygen levels did not modify the psychophysiological responses during repeated-sprint exercise with a short exercise-to-rest ratio, and sprint duration was the primary factor affecting performance and muscle oxygenation.
INTERNATIONAL JOURNAL OF SPORTS PHYSIOLOGY AND PERFORMANCE
(2023)
Article
Oncology
Rossana Bussani, Lorena Zentilin, Ricardo Correa, Andrea Colliva, Furio Silvestri, Serena Zacchigna, Chiara Collesi, Mauro Giacca
Summary: This study found that recovered COVID-19 patients may still experience worsening of their condition and eventually die, despite negative test results. Post-mortem analysis showed that the lung pathology of these patients was similar to that of acute COVID-19 cases, despite negative viral tests. These findings suggest that SARS-CoV-2 infection can persist longer than suggested by standard tests, with specific cell types in the lung being infected.
JOURNAL OF PATHOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Paolo Enrico, Giuseppe Delvecchio, Nunzio Turtulici, Rosario Aronica, Alessandro Pigoni, Letizia Squarcina, Filippo Villa, Cinzia Perlini, Maria Rossetti, Marcella Bellani, Antonio Lasalvia, Chiara Bonetto, Paolo Scocco, Armando D'Agostino, Stefano Torresani, Massimiliano Imbesi, Francesca Bellini, Angelo Veronese, Luisella Bocchio-Chiavetto, Massimo Gennarelli, Matteo Balestrieri, Gualtiero Colombo, Annamaria Finardi, Mirella Ruggeri, Roberto Furlan, Paolo Brambilla, GET UP Grp
Summary: Psychosis onset is a transdiagnostic event that can lead to various psychiatric disorders, and current diagnosis is based on clinical observation. This study used a data-driven unsupervised machine learning model to cluster first-episode psychosis patients based on immune gene expression levels, identifying two distinct subgroups. One subgroup showed high expression of inflammatory and immune-activating genes, while the other subgroup was balanced and included both patients and healthy controls. These findings suggest the importance of immunomarkers in the pathogenesis of psychosis.
MOLECULAR PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Melania Lippi, Angela Serena Maione, Mattia Chiesa, Gianluca Lorenzo Perrucci, Lara Iengo, Tommaso Sattin, Chiara Cencioni, Matteo Savoia, Andreas M. Zeiher, Fabrizio Tundo, Claudio Tondo, Giulio Pompilio, Elena Sommariva
Summary: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder characterized by ventricular arrhythmias, contractile dysfunctions and fibro-adipose replacement of myocardium. This study aimed to enhance the understanding of ACM pathogenesis by comparing the epigenetic and gene expression profiles of ACM-CMSCs with healthy control (HC)-CMSCs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Stefania Cane, Roza Maria Barouni, Marina Fabbi, John Cuozzo, Giulio Fracasso, Annalisa Adamo, Stefano Ugel, Rosalinda Trovato, Francesco De Sanctis, Mauro Giacca, Rita Lawlor, Aldo Scarpa, Borislav Rusev, Gabriella Lionetto, Salvatore Paiella, Roberto Salvia, Claudio Bassi, Susanna Mandruzzato, Silvano Ferrini, Vincenzo Bronte
Summary: Preclinical studies have shown that myeloid cells can suppress antitumor immunity by degrading L-arginine, but differences in ARG1 expression and function in rodents and humans have hindered clinical translation. This study discovered that neutrophil extracellular traps (NETs) released by activated neutrophils in patients with PDAC create a microdomain where cathepsin S (CTSS) cleaves human ARG1 (hARG1) into different forms with enhanced enzymatic activity. These NET-associated hARG1 molecules suppress T lymphocytes, but their proliferation can be restored by blocking CTSS cleavage or using hARG1-specific monoclonal antibodies, suggesting potential therapeutic strategies for PDAC.
SCIENCE TRANSLATIONAL MEDICINE
(2023)
Article
Cell & Tissue Engineering
Martina Rabino, Erica Rurali, Chiara Zamboni, Davide Rovina, Sara Mallia, Matteo Cauteruccio, Andrea Baggiano, Carlo Maria Giacari, Milena Bellin, Giulio Pompilio
Summary: Coronavirus disease (COVID-19) is caused by SARS-CoV-2 and can lead to respiratory symptoms. Cardiovascular complications are common, including myocarditis, arrhythmias, heart failure, and coagulation abnormalities. In this study, hiPSCs were generated from four COVID-19 patients, two with severe myocarditis and two without, to study the mechanisms underlying the variability in severe cardiac manifestations.
STEM CELL RESEARCH
(2023)
Article
Biology
Salwa Soussi, Lesia Savchenko, Davide Rovina, Jason S. S. Iacovoni, Andrea Gottinger, Maxime Viallettes, Jose-Manuel Pioner, Andrea Farini, Sara Mallia, Martina Rabino, Giulio Pompilio, Angelo Parini, Olivier Lairez, Aoife Gowran, Nathalie Pizzinat
Summary: A study revealed that DMD patients lack the highest molecular weight isoform of dystrophin in their cardiac fibroblasts, leading to altered cell metabolism and mitochondrial function, exacerbating cardiac fibrosis and deterioration of cardiac function.
Review
Biochemistry & Molecular Biology
Sara Rega, Floriana Farina, Silvia Bouhuis, Silvia de Donato, Mattia Chiesa, Paolo Poggio, Laura Cavallotti, Giorgia Bonalumi, Ilaria Giambuzzi, Giulio Pompilio, Gianluca L. Perrucci
Summary: Thoracic aortic aneurysm (TAA) is a serious condition without etiological therapy. Recent studies have shown that integrating biological targets and etiological mechanisms through -omics approaches, especially metabolomics, can provide valuable insights for TAA diagnosis and therapy.
CELL AND BIOSCIENCE
(2023)
Review
Cell & Tissue Engineering
Mauro Giacca
Summary: The realization that various types of RNAs play a crucial role in tissue function opens up new possibilities for RNA-based therapies. For heart-related conditions, RNA therapies can stimulate cardiac repair, protect against ischemic damage or chemotherapy-induced cardiotoxicity, promote therapeutic angiogenesis, regenerate cardiac mass, and cure inherited cardiac diseases through mutation editing. However, the field of RNA therapeutics is still in its early stages and faces challenges in delivering RNA medicines to cells and specifically targeting the heart.
STEM CELLS TRANSLATIONAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Roman Roy, Antonio Cannata, Mohammad Al-Agil, Emma Ferone, Antonio Jordan, Brian To-Dang, Matthew Sadler, Aamir Shamsi, Mohammad Albarjas, Susan Piper, Mauro Giacca, Ajay M. Shah, Theresa Mcdonagh, Daniel Bromage, Paul A. Scott
Summary: This study aimed to investigate the diagnostic accuracy of different approaches for the diagnosis of acute myocarditis (AM). The findings indicate that ICD-10 codes have poor accuracy in identifying AM cases and should be used with caution in clinical research. The selection criteria used to diagnose AM can have important implications for patient management and outcomes. Standardization of inclusion criteria for AM studies is necessary.
EUROPEAN HEART JOURNAL-QUALITY OF CARE AND CLINICAL OUTCOMES
(2023)
Correction
Cardiac & Cardiovascular Systems
Carla Carnovale, Cristiana Perrotta, Sara Baldelli, Dario Cattaneo, Cristina Montrasio, Silvia S. Barbieri, Giulio Pompilio, Chiara Vantaggiato, Emilio Clementi, Marco Pozzi
CARDIOVASCULAR RESEARCH
(2023)