Article
Medicine, General & Internal
Renfang An, Jiang Liu, Jinwei Zhang, Fengcai Yao, Dekuan Tian, Fuli Liang, Wenqiang Li, Delian Li, Yiqi Wang, Sai Yan, Qijuan Yang, Yajie Zhang, Xiaoling Su
Summary: This study investigated the association between the SCN5A-H558R polymorphism and atrial fibrillation (AF) in Tibetans living at different altitudes in Qinghai, China. The research found that the G allele of SCN5A-H558R is an independent risk factor for AF, regardless of altitude.
Article
Medicine, General & Internal
Jiang Liu, Fengcai Yao, Kaiyue Han, Jinping Chai, Dekuan Tian, Jinwei Zhang, Rong Wang, Wei Li, Yanmei Shen, Yuanfeng Ma, Sang Geng, Xiaoling Su
Summary: This study aimed to explore the relationship between the H558R polymorphism of the SCN5A gene and atrial fibrillation (AF) in Tibetan and Han nationalities at high altitude. The study found that the G allele is an independent risk factor for the occurrence of AF in Tibetan and Han nationalities.
Article
Cardiac & Cardiovascular Systems
Molly O'Reilly, Laura C. Sommerfeld, C. O'Shea, S. Broadway-Stringer, S. Andaleeb, J. S. Reyat, S. N. Kabir, D. Stastny, A. Malinova, D. Delbue, L. Fortmueller, K. Gehmlich, D. Pavlovic, B. Skryabin, A. P. Holmes, P. Kirchhof, L. Fabritz
Summary: This study found that the point mutation M1875T in the SCN5A gene is associated with familial AF. A new mouse model was used to show that this mutation causes gain-of-function of the cardiac sodium channel, resulting in increased atrial excitability.
Article
Cell & Tissue Engineering
Liang Hong, Meihong Zhang, Olivia Thao Ly, Hanna Chen, Arvind Sridhar, Erin Lambers, Brandon Chalazan, Seock-Won Youn, Mark Maienschein-Cline, Leonid Feferman, Sang-Ging Ong, Joseph C. Wu, Jalees Rehman, Dawood Darbar
Summary: SCN5A mutations linked with familial atrial fibrillation cause spontaneous arrhythmogenic activity and prolonged action potential duration in patient-specific induced pluripotent stem cell-derived atrial cardiomyocytes. These mutations may trigger atrial fibrillation through modulation of late sodium currents via the nitric oxide signaling pathway.
Article
Cardiac & Cardiovascular Systems
Ange Maguy, Yuvaraj Mahendran, Jean-Claude Tardif, David Busseuil, Jin Li
Summary: This study explores the association between autoantibodies targeting cardiac ion channels and unexplained AF. They found a common autoantibody response against K(ir)3.4 protein in patients with AF, even before the development of clinically apparent AF. Functional studies and a mouse model of K(ir)3.4 autoimmunity support the causal relationship between K(ir)3.4 autoantibodies and AF.
Review
Biochemistry & Molecular Biology
Houria Daimi, Estefania Lozano-Velasco, Amelia Aranega, Diego Franco
Summary: This review provides the latest information on the molecular events that regulate the Na(v)1.5 sodium channel and the cardiac channelopathies associated with defects in these pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Sho Okamura, Yuko Onohara, Hidenori Ochi, Takehito Tokuyama, Naoya Hironobe, Yosaku Okubo, Yoshihiro Ikeuchi, Shunsuke Miyauchi, Kazuaki Chayama, Yasuki Kihara, Yukiko Nakano
Summary: This study found that a mutation in the GJA1 gene is associated with rapid ventricular rate and may serve as a new genetic marker for atrial fibrillation tachycardia. Through genotyping of 311 patients with persistent AF and replication in 146 patients, the significant impact of GJA1 SNP on HR during AF was confirmed.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Karlo Golubic, Petra Angebrandt Belosevic, Ana Marija Sliskovic, Zorana Grubic, Katarina Stingl Jankovic, Vjekoslav Radeljic, Diana Delic Brkljacic
Summary: This study investigated the genetic trait of elevated fibrinogen levels in patients with atrial fibrillation (AF) and the potential use of fibrinogen concentrations for predicting left atrial thrombus (LAT). The results showed that elevated fibrinogen concentrations were not associated with LAT, but when combined with renal function markers such as creatinine clearance, they enhanced the predictive power for LAT.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biology
Fernanda M. Bosada, Karel van Duijvenboden, Alexandra E. Giovou, Mathilde R. Rivaud, Jae-Sun Uhm, Arie O. Verkerk, Bastiaan J. Boukens, Vincent M. Christoffels, Kalyanam Shivkumar
Summary: Heart development and rhythm control are affected by the dosage of Tbx5. Increased expression of TBX5 is associated with atrial fibrillation (AF), while haploinsufficiency of TBX5 causes conduction disorders. In this study, two AF-associated genomic regions in the Tbx5 locus were deleted, leading to a modest increase in Tbx5 expression in the postnatal atria. This increase in Tbx5 expression resulted in changes in gene expression, ion transport, conduction, susceptibility to atrial arrhythmias, and action potential duration of atrial cardiomyocytes. The study also identified an AF-associated variant that affects the transcriptional activity of a region in Tbx5. Additionally, an interaction between Tbx5 and another AF gene, Prrx1, was discovered. This study highlights the importance of dosage-dependent transcription factors in cardiac gene regulation and disease susceptibility.
Article
Cardiac & Cardiovascular Systems
Giulia Campostrini, Georgios Kosmidis, Dorien Ward-van Oostwaard, Richard P. Davis, Loukia Yiangou, Daniele Ottaviani, Christiaan C. Veerman, Hailiang Mei, Valeria V. Orlova, Arthur A. M. Wilde, Connie R. Bezzina, Arie O. Verkerk, Christine L. Mummery, Milena Bellin
Summary: This study investigates the maturation of hiPSC-CMs through three-dimensional cardiac microtissue culture, revealing the effects of mutations in the SCN5A gene's adult exon and identifying the key factor MBNL1 that promotes adult splicing of SCN5A.
CARDIOVASCULAR RESEARCH
(2023)
Review
Biochemistry & Molecular Biology
Jordana I. Borges, Malka S. Suster, Anastasios Lymperopoulos
Summary: The regulator of G protein signaling (RGS) proteins are essential for terminating G protein signals elicited by GPCRs. They play crucial roles in the regulation of cardiac function and homeostasis and are involved in heart failure and atrial fibrillation. Numerous studies have shown the importance of RGS proteins in cardiac normal homeostasis as well as pathophysiology, with RGS4 being selectively upregulated in human HF and implicated in protection against AFib.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
Hiroaki Kawano, Koichi Kawamura, Masaki Kohno, Mitsuaki Ishijima, Satoki Fukae, Taisuke Ishikawa, Naomasa Makita, Koji Maemura
Summary: A 16-year-old Japanese boy was admitted to the hospital due to cardiac issues, diagnosed with a cardiac conduction defect and found to have a genetic mutation related to cardiomyopathy and arrhythmia in family genetic analysis. After further examinations and surgery, he successfully received permanent pacemaker implantation.
MEDICAL MOLECULAR MORPHOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Christoph Beyer, Lyudmyla Tokarska, Markus Stuhlinger, Gudrun Feuchtner, Florian Hintringer, Sarah Honold, Lukas Fiedler, Marie-Sophie Schonbauer, Robert Schonbauer, Fabian Plank
Summary: Atrial wall thickness, epicardial fat volume, and attenuation are associated with AF recurrence in patients undergoing ablation therapy.
JACC-CARDIOVASCULAR IMAGING
(2021)
Article
Cardiac & Cardiovascular Systems
Zhong-He Zhang, Hector Barajas-Martinez, Hao Xia, Bian Li, John A. Capra, Jerome Clatot, Gan-Xiao Chen, Xiu Chen, Bo Yang, Hong Jiang, Gary Tse, Yoshiyasu Aizawa, Michael H. Gollob, Melvin Scheinman, Charles Antzelevitch, Dan Hu
Summary: This study compared the features of patients with early repolarization syndrome (ERS) and Brugada syndrome (BrS) carrying pathogenic variants in SCN5A. The study found differences in SCN5A mutation rates, as well as differences in key electrophysiological parameters and risk for major arrhythmia events (MAE) between ERS and BrS patients. Additionally, a critical role of Ito in JWS and a higher risk for MAE in JWS probands carrying multiple pathogenic variants in SCN5A were identified.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Fitzwilliam Seibertz, Tony Rubio, Robin Springer, Fiona Popp, Melanie Ritter, Aiste Liutkute, Lena Bartelt, Lea Stelzer, Fereshteh Haghighi, Jan Pietras, Hendrik Windel, Nuria Diaz i Pedrosa, Markus Rapedius, Yannic Doering, Richard Solano, Robin Hindmarsh, Runzhu Shi, Malte Tiburcy, Tobias Bruegmann, Ingo Kutschka, Katrin Streckfuss-Boemeke, George Kensah, Lukas Cyganek, Wolfram H. Zimmermann, Niels Voigt
Summary: The study successfully simulated atrial fibrillation-induced electrical remodelling in ventricular or human atrial-like cardiomyocytes, providing a novel platform for the development of antiarrhythmic therapies.
CARDIOVASCULAR RESEARCH
(2023)
