Article
Pharmacology & Pharmacy
Malene Brohus, Ana-Octavia Busuioc, Reinhard Wimmer, Mette Nyegaard, Michael Toft Overgaard
Summary: Missense variants in CALM genes cause severe cardiac arrhythmias and can interfere with the binding of Na(V)1.5 and CaM, altering the cardiac sodium current. A novel CALM2 variant, G114R, was identified in a family with sudden death while asleep, showing features of both CPVT and Brugada Syndrome/LQT3. The CaM variants G114R and G114W severely impair CaM binding to Na(V)1.5, while the N98S variant only induces a minor reduction.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Neurosciences
Xueyong Wang, Chris Dupont, Delaney Grant, Andrew A. Voss, Mark M. Rich
Summary: This study reveals that myotonia in patients with muscle channelopathies is caused by myotonic discharges, and identifies a new phenomenon called plateau potentials, which contribute to myotonia. The development of plateau potentials can explain the electrically silent muscle contractions reported in some patients with myotonia.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renee Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros Domingo, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James Ware, Ray E. Hershberger
Summary: A systematic curation of 51 genes related to DCM revealed that 19 genes have high evidence (12 definitive/strong, 7 moderate), but these genes only explain a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed.
Review
Biochemistry & Molecular Biology
Hamza El Hadi, Anne Freund, Steffen Desch, Holger Thiele, Nicolas Majunke
Summary: Cardiomyopathies are a diverse group of heart muscle disorders with potentially fatal consequences such as arrhythmias and heart failure. They are a leading cause of heart transplantation worldwide. Recent advancements in understanding the molecular basis and diagnostic evaluation have paved the way for targeted therapies. However, further research is needed to improve risk assessment and prevention strategies for sudden cardiac death.
Article
Multidisciplinary Sciences
Sara Brethel, Seth Locker, Renee Girens, Paulo Rivera, Kathryn Meurs, Darcy Adin
Summary: The role of taurine in the treatment of congestive heart failure in dogs was explored in this study. Oral taurine supplementation was found to suppress the renin-angiotensin aldosterone system in dogs with CHF. The study showed that taurine increased blood taurine concentrations and decreased the aldosterone to angiotensin II ratio, indicating potential benefits in CHF treatment.
SCIENTIFIC REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Yang Sun, Lei Xiao, Ke Li, Hong Wang, Xiuli Song, Zongzhe Li, Chenze Li, Yanghui Chen, Shiyang Li, Jin Huang, Lun Tan, Dong Hu, Ting Yu, Rui Li, Hong Wang, Li Jin, Leming Shi, Ali J. Marian, Dao Wen Wang
Summary: The study suggests that pathogenic variants and likely pathogenic variants in genes known to cause primary dilated cardiomyopathy are enriched in patients with ischemic dilated cardiomyopathy, indicating that these variants play a role in the susceptibility to cardiac dilatation and dysfunction post myocardial ischemic injury.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Yuliang Feng, Liuyang Cai, Wanzi Hong, Chunxiang Zhang, Ning Tan, Mingyang Wang, Cheng Wang, Feng Liu, Xiaohong Wang, Jianyong Ma, Chen Gao, Mohit Kumar, Yuanxi Mo, Qingshan Geng, Changjun Luo, Yan Lin, Haiyang Chen, Shuang-Yin Wang, Michael J. Watson, Anil G. Jegga, Roger A. Pedersen, Ji-Dong Fu, Zhao Wang, Guo-Chang Fan, Sakthivel Sadayappan, Yigang Wang, Siim Pauklin, Feng Huang, Wei Huang, Lei Jiang
Summary: This study investigates the role of 3-dimensional chromatin topology in dilated cardiomyopathy (DCM) by analyzing the epigenome and transcriptome maps of DCM and nonfailing heart tissues. The research reveals that the reprogramming of chromatin topology is associated with transcriptional dysregulation in DCM, with the key transcription factor HAND1 implicated in the process. The findings provide insights into the pathogenesis of DCM and highlight the importance of chromatin organization in heart failure.
Review
Medicine, General & Internal
Jose F. Couto, Elisabete Martins
Summary: Cardiomyopathies can be hereditary and have a familial predilection. They can result in heart failure, sudden death, or arrhythmias. Genetic testing plays a crucial role in identifying individuals carrying mutations and regular follow-ups are essential for the management of these conditions.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Medicine, General & Internal
Enrica Chiti, Marco Paolo, Emanuela Turillazzi, Anna Rocchi
Summary: MiRNAs are small non-coding RNAs involved in regulating biochemical pathways in the human body; their levels can be altered due to pathophysiological mechanisms, making them potential biomarkers for cardiac diseases and other pathological conditions. This review summarizes findings of miRNA biomarkers in the three most common structural cardiomyopathies.
Article
Neurosciences
Zoja Selimi, Jean-Sebastien Rougier, Hugues Abriel, Jan P. P. Kucera
Summary: Cardiac voltage-gated sodium (Na+) channels play a crucial role in myocardial electrical excitation. Single-channel recordings indicate that these channels exhibit functional interactions and coupled gating. However, the analysis of such recordings often involves manual interventions, leading to potential bias. In this study, an automated pipeline was developed to de-trend and idealize single-channel currents, revealing weak or no functional interactions in wild-type Na(v)1.5 channels.
JOURNAL OF PHYSIOLOGY-LONDON
(2023)
Article
Cardiac & Cardiovascular Systems
Fernando de Frutos, Juan Pablo Ochoa, Marina Navarro-Penalver, Annette Baas, Jesper Vandborg Bjerre, Esther Zorio, Irene Mendez, Rebeca Lorca, Job A. J. Verdonschot, Pablo Elpidio Garcia-Granja, Zofia Bilinska, Diane Fatkin, M. Eugenia Fuentes-Canamero, Jose M. Garcia-Pinilla, Maria I. Garcia-Alvarez, Francesca Girolami, Roberto Barriales-Villa, Carles Diez-Lopez, Luis R. Lopes, Karim Wahbi, Ana Garcia-Alvarez, Ibon Rodriguez-Sanchez, Javier Rekondo-Olaetxea, Jose F. Rodriguez-Palomares, Maria Gallego-Delgado, Benjamin Meder, Milos Kubanek, Frederikke G. Hansen, Maria Alejandra Restrepo-Cordoba, Julian Palomino-Doza, Luis Ruiz-Guerrero, Georgia Sarquella-Brugada, Alberto Jose Perez-Perez, Francisco Jose Bermudez-Jimenez, Tomas Ripoll-Vera, Torsten Bloch Rasmussen, Mark Jansen, Maria Sabater-Molina, Perry M. Elliot, Pablo Garcia-Pavia
Summary: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to end-stage heart failure (ESHF). Heart failure complications predominate over ventricular arrhythmias, which are rare.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Sijuan Sun, Xiaofeng Guo, Yiwei Chen, Jie Shen, Diqi Zhu, Zhifang Zhang, Lijun Fu, Wei Ji, Fen Li
Summary: The study demonstrates that left ventricular epicardial pacing has a significant effect in young children with low body weight if HF is caused by or related to LBBB.
Article
Cardiac & Cardiovascular Systems
Diane Fatkin, Hugh Calkins, Perry Elliott, Cynthia A. James, Stacey Peters, Jason C. Kovacic
Summary: Inherited cardiomyopathies are common myocardial disorders with significant morbidity and mortality. Clinical management focuses on treating heart failure and arrhythmias, with precision medicine offering new possibilities tailored to genetic variations, although phenotypic variability suggests involvement of other factors.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
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)
Review
Medicine, General & Internal
Angita Jain, Nadine Norton, Katelyn A. Bruno, Leslie T. Cooper, Paldeep S. Atwal, DeLisa Fairweather
Summary: Dilated cardiomyopathy (DCM) is a condition characterized by left ventricular dilatation and impaired systolic function, with diverse etiologies including genetic factors, infection, inflammation, and autoimmune diseases. Research indicates that DCM is more common in males than females, and there are differences in disease prevalence between the sexes.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Sarah H. Vermij, Jean-Sebastien Rougier, Esperanza Agullo-Pascual, Eli Rothenberg, Mario Delmar, Hugues Abriel
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
(2020)
Article
Physiology
Yaopeng Hu, Daniela Ross Kaschitza, Maria Essers, Prakash Arullampalam, Takayuki Fujita, Hugues Abriel, Ryuji Inoue
Summary: This study reveals the potential arrhythmogenicity of CaMKII-mediated TRPM4 channel overactivation linked to Ca2+ dysregulation in the heart, demonstrating the functional interaction between TRPM4 and CaMKII proteins. Enhanced by angiotensin II treatment, this novel arrhythmic mechanism involving excessive CaMKII activity causing TRPM4 overactivation in the stressed heart was further confirmed through experimental and numerical simulations.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Lijo Cherian Ozhathil, Jean-Sebastien Rougier, Prakash Arullampalam, Maria C. Essers, Daniela Ross-Kaschitza, Hugues Abriel
Summary: Deleting TRPM4 gene in mice results in a reduction in Na+ current in cardiac myocytes, leading to increased sensitivity to Na+ channel blockers and slower intraventricular conduction. This study indicates a novel function of TRPM4 in regulating Na+ current in murine cardiac myocytes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Plant Sciences
Jaouad El-Hilaly, Mohamed-Yassine Amarouch, Nicole Morel, Badiaa Lyoussi, Joelle Quetin-Leclercq
Summary: The study found that Ajuga iva has antihypertensive and vasorelaxant effects in hypertensive rats, possibly due to specific components it contains, supporting its traditional use in folk medicine for hypertension treatment.
JOURNAL OF ETHNOPHARMACOLOGY
(2021)
Article
Pharmacology & Pharmacy
Prakash Arullampalam, Barbara Preti, Daniela Ross-Kaschitza, Martin Lochner, Jean-Sebastien Rougier, Hugues Abriel
Summary: The study reveals species-dependent differences in the response of TRPM4 inhibitors on human and mouse TRPM4 channels. While CBA and NBA can effectively inhibit human TRPM4, they may have different effects on mouse TRPM4. Furthermore, the application of 9-phenanthrol may lead to opposite outcomes for mouse TRPM4 depending on the site of application.
FRONTIERS IN PHARMACOLOGY
(2021)
Editorial Material
Physiology
Mohamed-Yassine Amarouch, Elena Zaklyazminskaya, Jean-Sebastien Rougier
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Neurosciences
Lolita Dokshokova, Mauro Franzoso, Anna Di Bona, Nicola Moro, Jose Luis Sanchez Alonso, Valentina Prando, Michele Sandre, Cristina Basso, Giuseppe Faggian, Hugues Abriel, Oriano Marin, Julia Gorelik, Tania Zaglia, Marco Mongillo
Summary: Cardiomyocytes release nerve growth factor (NGF) to support innervating sympathetic neurons in the heart, with neuro-cardiac junctions (NCJ) playing a crucial role in supporting retrograde neurotrophic signaling. The direct link between sympathetic neuron survival and neurotrophin release by cardiomyocytes is essential for heart cellular homeostasis.
JOURNAL OF PHYSIOLOGY-LONDON
(2022)
Article
Chemistry, Multidisciplinary
Barbara Preti, Jean-Sebastie Rougier, Irida Papapostolou, Florian Bochen, Christian E. Gerber, Hugues Abriel, Martin Lochner, Christine Peinelt
Summary: This study identified TRPM4 inhibitors and investigated the pathophysiology of TRPM4 in cardiac conditions, immune diseases, and cancer using these inhibitors, molecular biology techniques, and functional assays.
Article
Chemistry, Multidisciplinary
Valentina Rossetti, Hugues Abriel
Summary: Funded by the Swiss National Science Foundation and the University of Bern, NCCR TransCure was active from 2010 to 2022, providing a unique research and educational framework in the membrane transporter and ion channel field. Through an interdisciplinary approach and a rich offering in complementary areas, the network achieved outstanding scientific results and contributed to the education of young scientists.
Article
Cardiac & Cardiovascular Systems
Mey Boukenna, Jean-Sebastien Rougier, Parisa Aghagolzadeh, Sylvain Pradervand, Sabrina Guichard, Anne-Flore Hammerli, Thierry Pedrazzini, Hugues Abriel
Summary: TRPM4 plays a critical role in the inflammatory response, cardiac function, and healing after myocardial infarction (MI). Deletion of Trpm4 leads to increased inflammation, fibrosis, and angiogenesis post-MI, which have important implications for the treatment of MI.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2023)
Article
Neurosciences
Zoja Selimi, Jean-Sebastien Rougier, Hugues Abriel, Jan P. P. Kucera
Summary: Cardiac voltage-gated sodium (Na+) channels play a crucial role in myocardial electrical excitation. Single-channel recordings indicate that these channels exhibit functional interactions and coupled gating. However, the analysis of such recordings often involves manual interventions, leading to potential bias. In this study, an automated pipeline was developed to de-trend and idealize single-channel currents, revealing weak or no functional interactions in wild-type Na(v)1.5 channels.
JOURNAL OF PHYSIOLOGY-LONDON
(2023)
Article
Biochemistry & Molecular Biology
Oksana Iamshanova, Jean-Sebastien Rougier, Hugues Abriel
Summary: Clusters of the α-subunit of voltage-gated sodium channels play a crucial role in cellular excitability and action potential propagation. In cardiomyocytes, the α-subunit Na(v)1.5 is expressed at specialized membrane microdomains. The mechanisms underlying the redistribution and cooperativity of Na(v)1.5 remain unclear, but interactions with β-subunits and 14-3-3 proteins are thought to be involved.
Meeting Abstract
Biophysics
Oksana Iamshanova, Arbresh Seljmani, Elise Ramaye, Sabrina Guichard, Maria Essers, Anne-Flore Hammerli, Jean-Sebastien Rougier, Hugues Abriel
EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS
(2021)
Meeting Abstract
Biochemistry & Molecular Biology
O. Iamshanova, A. Seljmani, E. Ramaye, S. Guichard, M. Essers, A. Hammerli, J. Rougier, H. Abriel
Article
Biochemistry & Molecular Biology
Zizun Wang, Sarah H. Vermij, Valentin Sottas, Anna Shestak, Daniela Ross-Kaschitza, Elena Zaklyazminskaya, Andy Hudmon, Geoffrey S. Pitt, Jean-Sebastien Rougier, Hugues Abriel