Article
Genetics & Heredity
Marina C. Costa, Maria Calderon-Dominguez, Alipio Mangas, Oscar Campuzano, Georgia Sarquella-Brugada, Monica Ramos, Maribel Quezada-Feijoo, Jose Manuel Garcia Pinilla, Ainhoa Robles-Mezcua, Galan del Aguila Pacheco-Cruz, Thalia Belmonte, Francisco J. Enguita, Rocio Toro
Summary: Peripheral circRNAs show potential as non-invasive biomarkers for etiology-based diagnosis of dilated cardiomyopathy, with the ability to differentiate between different causes of DCM and correlate with echocardiographic parameters.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2021)
Article
Biochemistry & Molecular Biology
Ming-Han Wu, Rui-Yu Lu, Si-Jie Yu, Yi-Zhen Tsai, Ying-Chen Lin, Zhi-Yu Bai, Ruo-Yu Liao, Yi-Chiang Hsu, Chia-Chi Chen, Bi-He Cai
Summary: This study found that PTC124 can induce the expression of tumor suppressor genes NOTCH1 and FAT1 in head and neck squamous cell carcinoma, inhibiting cell proliferation and showing therapeutic potential.
Article
Cardiac & Cardiovascular Systems
Luzi Yang, Jinhuan Sun, Zhan Chen, Lei Liu, Yueshen Sun, Junsen Lin, Xiaomin Hu, Mingming Zhao, Yuanwu Ma, Dan Lu, Yifei Li, Yuxuan Guo, Erdan Dong
Summary: The LMNA c.1621C > T/ p.R541C variant contributes to dilated cardiomyopathy (DCM) by enhancing heterochromatic gene suppression and disrupting mitochondrial functions.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Oncology
Julien L. P. Morival, Halida P. Widyastuti, Cecilia H. H. Nguyen, Michael Zaragoza, Timothy L. Downing
Summary: The study found family-specific DMRs in fibroblasts caused by LMNA mutations associated with dilated cardiomyopathy (DCM), linked to genes related to laminopathy phenotypes. Inter-family epimutation hotspots near differentially expressed genes found outside LADs redistributed in LMNA-related DCM were identified. Comparison of DMRs in fibroblasts and iPSCs revealed persistent epimutations across both cell types.
CLINICAL EPIGENETICS
(2021)
Article
Medicine, Research & Experimental
Sara H. Osum, Eunice I. Oribamise, Stanislas M. A. S. Corbiere, Mandy Taisto, Tyler Jubenville, Alex Coutts, Mark N. Kirstein, James Fisher, Christopher Moertel, Ming Du, David Bedwell, David A. Largaespada, Adrienne L. Watson
Summary: Neurofibromatosis type 1 (NF1) is caused by germline mutations in the tumor-suppressor gene NF1, leading to an increased risk of nervous system tumors. In this study, a minipig model of NF1 carrying a premature termination codon (PTC) was used to investigate the potential of nonsense suppression in restoring expression of the NF1-encoded protein neurofibromin. The results showed that nonsense suppression did not significantly increase neurofibromin in primary NF1-'- Schwann cells, but it reduced phosphorylated ERK.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2023)
Article
Medicine, Research & Experimental
Chia Yee Tan, Pui Shi Chan, Hansen Tan, Sung Wei Tan, Chang Jie Mick Lee, Jiong-Wei Wang, Shu Ye, Hendrikje Werner, Ying Jie Loh, Yin Loon Lee, Matthew Ackers-Johnson, Roger S. Y. Foo, Jianming Jiang
Summary: In this study, the authors evaluated 14 potential candidates, including Lmna gene products, key signaling pathways, calcium handling, proliferation regulators, and modifiers of LINC complex function, in a specific Lmna DCM model. They found that several candidates, including Smad3, Yy1, Bmp7, Ctgf, aYAP1, Sun1, Lamin A, and Lamin C, restored cardiac function and reduced markers of heart failure and fibrosis in Lmna DCM. Knockdown of Sun1 or supplementation of Lamin C also led to prolonged survival. However, supplementation of Lamin A did not improve long term survival and could even induce DCM in healthy hearts. These findings suggest that Lamin C and Sun1 may be potential therapeutic targets for LMNA DCM.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Sacha Spelier, Eveline P. M. van Doorn, Cornelis K. van der Ent, Jeffrey M. Beekman, Martijn A. J. Koppens
Summary: Approximately 10% of pathological mutations are nonsense mutations causing severe genetic disorders without effective treatments. Ribosomal readthrough is the common strategy to treat nonsense mutations and restore full-length protein production. Despite promising preclinical results on readthrough compounds, clinical studies have not shown positive outcomes. We review both preclinical and clinical research on readthrough compounds and discuss factors contributing to the translational gap.
TRENDS IN MOLECULAR MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Chia-Chi Chen, Ruo-Yu Liao, Fang-Yu Yeh, Yu-Rou Lin, Tze-You Wu, Alexa Escobar Pastor, Danny Danilo Zul, Yun-Chien Hsu, Kuan-Yo Wu, Ke-Fang Liu, Reiji Kannagi, Jang-Yi Chen, Bi-He Cai
Summary: In this study, a simple and affordable method was developed to create different clones of p53 with nonsense mutations for investigating the effects of PTC124. The results showed that PTC124 was more effective in rescuing C-terminal nonsense mutations of p53 than N-terminal ones.
Article
Cardiac & Cardiovascular Systems
Kiran Sidhu, Anna Isotta Castrini, Victoria Parikh, Nosheen Reza, Anjali Owens, Maxime Tremblay-Gravel, Matthew T. Wheeler, Luisa Mestroni, Matthew Taylor, Sharon Graw, Marta Gigli, Marco Merlo, Alessia Paldino, Gianfranco Sinagra, Daniel P. Judge, Hannia Ramos, Olurotimi Mesubi, Emily Brown, Samual Turnbull, Saurabh Kumar, Darius Roy, Usha B. Tedrow, Long Ngo, Kristina Haugaa, Neal K. Lakdawala
Summary: Cardiac resynchronization therapy (CRT) plays an important role in improving heart failure in LMNA cardiomyopathy patients, especially in those with strong guideline indications. The study found that patients who responded to CRT had improved systolic function and experienced survival benefits.
EUROPEAN JOURNAL OF HEART FAILURE
(2022)
Article
Cardiac & Cardiovascular Systems
Kenji Onoue, Hiroko Wakimoto, Jiangming Jiang, Michael Parfenov, Steven DePalma, David Conner, Joshua Gorham, David McKean, Jonathan G. Seidman, Christine E. Seidman, Yoshihiko Saito
Summary: The mutation of LMNA gene contributes to the development of DCM by impairing cell proliferation capacity and cell cycle defects, which is distinct from the mechanisms of other causative genes of DCM.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Medicine, Research & Experimental
Ryoko Semba, Takamitsu Morioka, Hiromi Yanagihara, Kenshi Suzuki, Hirotaka Tachibana, Takahiro Hamoya, Yoshiya Horimoto, Tatsuhiko Imaoka, Mitsue Saito, Shizuko Kakinuma, Masami Arai
Summary: This study found that the macrolide antibiotic azithromycin has inhibitory effects on intestinal tumorigenesis in mice with a nonsense mutation in the Apc gene. It suppresses tumor growth and adenocarcinoma formation, while also restoring the levels of full-length Apc protein and downregulating β-catenin and cyclin D1. However, the impact of azithromycin on the diversity of intestinal microbiota depends on the concentration used.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Article
Cell & Tissue Engineering
Giada Cattelan, Laura Sophie Frommelt, Chiara Volani, Andrea Colliva, Giulio Ciucci, Alessia Paldino, Matteo Dal Ferro, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Marzia De Bortoli, Serena Zacchigna, Alessandra Rossini
Summary: In this study, a human induced pluripotent stem cell line was successfully created from peripheral blood mononuclear cells of a patient carrying a heterozygous LMNA variant. The cell line exhibited typical pluripotent cell morphology, normal karyotype, pluripotency markers, and the ability to differentiate into cardiomyocytes and endothelial cells. This cell line serves as an in vitro model to study the genetic basis of DCM.
STEM CELL RESEARCH
(2023)
Article
Multidisciplinary Sciences
Martin Y. Ng, Hong Li, Mikel D. Ghelfi, Yale E. Goldman, Barry S. Cooperman
Summary: This study investigates the effects of ataluren and G418 on read-through, finding that ataluren exclusively stimulates read-through by inhibiting release factor activity, while G418 increases near-cognate tRNA mispairing with a PSC. The low toxicity of ataluren suggests that developing new TRIDs aimed at inhibiting termination should be a priority in combating PSC diseases. Additionally, the research provides rate measurements of certain steps during the eukaryotic translation elongation cycle, showing how these rates are altered when cognate tRNA is replaced by near-cognate tRNA +/- TRIDs.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Anna Orlova, Daria Guseva, Oxana Ryzhkova
Summary: This study described a new case of severe dilated cardiomyopathy caused by a frameshift mutation in the CASZ1 gene. The clinical presentation was similar to previous studies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Matteo Ponzoni, John G. Coles, Jason T. Maynes
Summary: To improve the development of new therapeutic strategies for heart failure, preclinical models that accurately emulate the human condition are necessary. Rodent models of heart failure provide a strategic compromise between similarity to human in vivo conditions and the ability to conduct numerous experiments and explore various therapeutic candidates. This review summarizes currently available rodent models of heart failure, including their physiopathological basis, development timeline, and specific clinical features. It also provides a detailed overview of the advantages and possible drawbacks of each model to facilitate future investigation planning in the field of heart failure.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Mi Zhou, Duo Huang, Yangyang Cheng, Yee Man Lau, Wing Hon Lai, Yuk-Ming Lau, JoJo Hai, Chu Pak Lau, Esther W. Chan, Wen Sheng Yue, Ming-Liang Zuo, Li Xue Yin, Yingqing Feng, Ning Tan, Jiyan Chen, Xin Li Li, Hung Fat Tse, Chi Ho Lee, Wing-Sun Chow, Chung Wah Siu, Chun Ka Wong
Summary: This study implemented screening for left ventricular dysfunction in patients with type 2 diabetes mellitus and found a small percentage of patients at high risk for heart failure. Male gender, prior stroke, chronic kidney disease, and newly detected atrial fibrillation were significantly associated with elevated NT-proBNP levels. The study suggests that NT-proBNP and ECG screening can aid in early detection of cardiovascular complications and improve long-term outcomes.
POSTGRADUATE MEDICAL JOURNAL
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Hok Shing Tang, Chi Ting Kwan, Jianlong He, Pan Pan Ng, Siu Han Jojo Hai, Fung Yu James Kwok, Ho Fung Sze, Man Hon So, Hong Yip Lo, Ho Tung Ambrose Fong, Eric Yuk Fai Wan, Chi-Ho Lee, Esther Yee Tak Yu, Yee Tak Alta Lai, Chun Yin Jonan Lee, Siu Ting Leung, Hiu Lam Chan, Hung Fat Tse, Dudley J. Pennell, Raad H. Mohiaddin, Roxy Senior, Andrew T. Yan, Kai-Hang Yiu, Ming-Yen Ng
Summary: This study evaluated the prognostic utility of feature tracking (FT) parameters derived from cardiac magnetic resonance imaging (MRI) and found that left ventricular global longitudinal strain (LV GLS) is a significant independent predictor of adverse outcomes in patients with dilated cardiomyopathy (DCM). LV GLS can be used as a clinical indicator for predicting the prognosis of DCM patients and strengthens the clinical implementation of FT in cardiac MRI.
AMERICAN JOURNAL OF ROENTGENOLOGY
(2023)
Article
Endocrinology & Metabolism
Jia-Yi Huang, Yi-Kei Tse, Hang-Long Li, Cong Chen, Chun-Ting Zhao, Ming-Ya Liu, Mei-Zhen Wu, Qing-Wen Ren, Si-Yeung Yu, Denise Hung, Xin-Li Li, Hung-Fat Tse, Gregory Y. H. Lip, Kai-Hang Yiu
Summary: This study evaluated the association between prediabetes and heart failure, as well as the association of heart failure with changes in glycemic status. The results showed that prediabetes was associated with an increased risk of heart failure, while reverting to normoglycemia was associated with a decreased risk of heart failure.
Article
Medicine, General & Internal
Si-Yeung Yu, Hang-Long Li, Yi-Kei Tse, Xue Li, Qing-Wen Ren, Mei-Zhen Wu, Pui-Fai Wong, Hung-Fat Tse, Gregory. Y. H. Lip, Kai -Hang Yiu
Summary: The study aimed to investigate the potential protective effects of statin use among patients with infective endocarditis (IE), considering underlying diseases and bacterial culture variables. The effects of pre-admission and in-hospital statin use on mortality were estimated through propensity score analytics. The results showed that both pre-admission and in-hospital statin use were associated with a lower risk of 1-year mortality.
MAYO CLINIC PROCEEDINGS
(2023)
Article
Cardiac & Cardiovascular Systems
Yi Kei Tse, Hang Long Li, Si Yeung Yu, Mei Zhen Wu, Qing Wen Ren, Jiayi Huang, Hung Fat Tse, Jeroen J. Bax, Kai Hang Yiu
Summary: This study examines the predictors, changes, and prognostic implications of right ventricular (RV) remodelling in patients undergoing double-valve surgery. The study found that RV remodelling is strongly related to adverse outcomes and should be considered in risk assessment and decision-making for double-valve surgery.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Endocrinology & Metabolism
Mei-zhen Wu, Tiew-Hwa Katherine Teng, Wan-Ting Tay, Qing-wen Ren, Jasper Tromp, Wouter Ouwerkerk, Chanchal Chandramouli, Jia-Yi Huang, Yap-Hang Chan, Kanako Teramoto, Si-Yeung Yu, Claire Lawson, Hang-Long Li, Yi-Kei Tse, Xin-li Li, Denise Hung, Hung-Fat Tse, Carolyn S. P. Lam, Kai-Hang Yiu
Summary: Cardiorenal complications are common in patients with new-onset type 2 diabetes and are associated with a higher risk of mortality. Close surveillance of these complications is crucial to reduce the burden of disease.
DIABETES OBESITY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Chi-Ho Lee, David Tak-Wai Lui, Raymond Hang-Wun Li, Michele Mae-Ann Yuen, Carol Ho-Yi Fong, Ambrose Pak-Wah Leung, Justin Chiu-Man Chu, Loey Lung-Yi Mak, Tai-Hing Lam, Jean Woo, Yu-Cho Woo, Aimin Xu, Hung-Fat Tse, Kathryn Choon-Beng Tan, Bernard Man-Yung Cheung, Man-Fung Yuen, Karen Siu-Ling Lam
Summary: This study investigated whether incorporating additional metabolic risk factors improved liver fibrosis risk stratification in non-diabetic overweight/obese MAFLD individuals. The results showed that abnormal AST and HOMA-IR levels were independently associated with higher liver fibrosis risk, and a sequential screening algorithm using these factors was developed for risk identification.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Benjamin Y. F. So, Chun Ka Wong, Gordon Chun Kau Chan, Jack Kit Chung Ng, Grace Chung Yan Lui, Cheuk Chun Szeto, Ivan Fan Ngai Hung, Hung Fat Tse, Sydney C. W. Tang, Tak Mao Chan, Kai Ming Chow, Desmond Y. H. Yap
Summary: Hypernatraemia is common in COVID-19 patients, especially during the Omicron era. Patients with hypernatraemia have higher 30-day mortality and longer hospital stays. This study provides insights into the epidemiology and clinical outcomes of hypernatraemia in COVID-19 patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Calvin Ka-Lam Leung, Lok-Yee Lam, Kwan-Yu Li, Yundi Feng, Gaozhen Cao, Min Wu, Run Wang, Mei-Zhen Wu, Qing-Wen Ren, Si-Yeung Yu, Yi-Kei Tse, Hang-Long Li, Shuk-Yin Yu, Hung-Fat Tse, Bo Xu, Kai-Hang Yiu
Summary: This study evaluated the prognostic value of computational pressure-flow dynamics-derived FFR in patients with stable coronary artery disease. The results showed that PCI was associated with a lower risk of adverse cardiovascular events in ischemic patients, but not in non-ischemic patients. Adherent-to-caFFR treatment was also associated with a lower risk of adverse events.
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH
(2023)
Article
Cardiac & Cardiovascular Systems
Xuxiao Ye, Caige Huang, Vincent Ka Chun Yan, Wei Kang, Min Fan, Gigi Kwan Chi Tsang, Clarissa Mung Yee Ho, Gregory Y. H. Lip, Kai-Hang Yiu, Hung-Fat Tse, Tiantian Ma, Xiwen Qin, Celine Sze Ling Chui, Francisco Tsz Tsun Lai, Carlos King Ho Wong, Eric Yuk Fai Wan, Xue Li, Cheuk Kwong Lee, Ivan Fan Ngai Hung, Ian Chi Kei Wong, Esther Wai Yin Chan
Summary: This study aimed to evaluate the risk of ischaemic stroke or systemic embolism and bleeding following COVID-19 vaccination in patients with atrial fibrillation (AF), with a focus on sex differences. The results showed that there was an increased risk of ischaemic stroke or systemic embolism in female patients with AF after receiving the first dose of BNT162b2 or CoronaVac. However, the risk was even higher after COVID-19 infection.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR PHARMACOTHERAPY
(2023)
Article
Cardiac & Cardiovascular Systems
Gregory Y. H. Lip, Marco Proietti, Tatjana Potpara, Moussa Mansour, Irina Savelieva, Hung Fat Tse, Andreas Goette, A. John Camm, Carina Blomstrom-Lundqvist, Dhiraj Gupta, Giuseppe Boriani
Summary: Stroke prevention in patients with atrial fibrillation has significantly improved with the introduction of non-vitamin K antagonist oral anticoagulants. Early rhythm control and cardiovascular risk factor management are also crucial in reducing the risk of stroke. Left atrial appendage occlusion or exclusion may be considered for patients who cannot undergo long-term oral anticoagulation. A holistic approach to atrial fibrillation management is recommended.
Article
Medicine, General & Internal
Eloi Marijon, Kumar Narayanan, Karen Smith, Sergio Barra, Cristina Basso, Marieke Blom, Lia Crotti, Andre D'Avila, Rajat Deo, Florence Dumas, Anastase Dzudie, Audrey Farrugia, Kaitlyn Greeley, Gerhard Hindricks, Wei Hua, Jodie Ingles, Taku Iwami, Juhani Junttila, Rudolph W. Koster, Jean-Benoit Le Polain De Waroux, Theresa M. Olasveengen, Marcus E. H. Ong, Michael Papadakis, Comilla Sasson, Sang Do Shin, Hung-Fat Tse, Zian Tseng, Christian Van Der Werf, Fredrik Folke, Christine M. Albert, Bo Gregers Winkel
Summary: Despite advancements in cardiovascular medicine, sudden cardiac death (SCD) remains a major challenge. Prevention efforts need to improve risk prediction and address arrhythmogenesis, while also strengthening community interventions and emergency medical systems. International collaboration and policy changes are crucial for further progress in tackling SCD.
Article
Cell & Tissue Engineering
Jingzhou Li, Fei Song, Ruolan Chen, Jinjuan Yang, Jie Liu, Li Huang, Fuyu Duan, Meng Kou, Boon Xuan Lian, Xiaoxia Zhou, Weimin Han, Liang Mao, Chan Wu, Weiyin Wu, Rui Wei, Hao Chen, Aimin Xu, Hung-Fat Tse, Qizhou Lian, Gang Li, Yan Wang
Summary: This study aimed to identify the active components of exosomes from bradykinin-pretreated cardiac-specific c-kit(+) cells and elucidate their underlying protective mechanisms in promoting angiogenesis against hindlimb ischemia.
STEM CELL REVIEWS AND REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Chi Ting Kwan, On Hang Samuel Ching, Pui Min Yap, Sau Yung Fung, Hok Shing Tang, Wan Wai Vivian Tse, Cheuk Nam Felix Kwan, Yin Hay Phoebe Chow, Nga Ching Yiu, Yung Pok Lee, Jessica Wing Ka Lau, Ambrose Ho Tung Fong, Qing-Wen Ren, Mei-Zhen Wu, Eric Yuk Fai Wan, Ka Chun Kevin Lee, Chun Yu Leung, Andrew Li, David Montero, Varut Vardhanabhuti, Jojo Siu Han Hai, Chung-Wah Siu, Hung-Fat Tse, Valentin Zingan, Xiaoxi Zhao, Haonan Wang, Dudley John Pennell, Raad Mohiaddin, Roxy Senior, Kai-Hang Yiu, Ming-Yen Ng
Summary: This study aimed to differentiate HFpEF patients from non-HFpEF patients and asymptomatic controls using intraventricular four-dimensional flow phase-contrast cardiovascular magnetic resonance. The results showed that CMR 4D flow derived LV direct flow and residual volume could effectively differentiate HFpEF patients from non-HFpEF patients.
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2023)
Correction
Cardiac & Cardiovascular Systems
Candela Diaz-Canestro, Hung-Fat Tse, Kai-Hang Yiu, David Montero
EUROPEAN HEART JOURNAL
(2023)