Article
Genetics & Heredity
Irene Sargiannidou, Violetta Christophidou-Anastasiadou, Andreas Hadjisavvas, George A. Tanteles, Kleopas A. Kleopa
Summary: Oculodentodigital dysplasia syndrome is linked to pathogenic variants in GJA1 gene. A new in-frame deletion (p.Lys134del) was identified in a patient with typical dysmorphic features. Functional study showed reduction in gap junction plaques in cells, with many retained inside.
FRONTIERS IN GENETICS
(2021)
Article
Chemistry, Multidisciplinary
Sin Hang Crystal Chan, Jarred M. Griffin, Connor A. Clemett, Margaret A. Brimble, Simon J. O'Carroll, Paul W. R. Harris
Summary: Peptide5 is a mimetic peptide with 12 amino acids that plays an important role in cell-to-cell communication. In order to improve its activity and stability, twenty-five novel mimetics were designed and synthesized. The results showed that one variant, H-VDCFLSRPTE-N-MeKT-OH, exhibited good activity and stability.
FRONTIERS IN CHEMISTRY
(2022)
Article
Pharmacology & Pharmacy
Niuben Cao, Xiaomeng Liu, Yubo Hou, Yu Deng, Yu Xin, Xirui Xin, Xinchen Xiang, Xinchan Liu, Weixian Yu
Summary: In this study, it was found that 18β-glycyrrhetinic acid (GA) alleviates oxidative damage in periodontal tissues by inhibiting the Cx43/JNK/NF-κB pathway, thus reducing the progression of periodontitis.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Anna Andrioli, Paolo Francesco Fabene, Giuseppa Mudo, Vincenza Barresi, Valentina Di Liberto, Monica Frinchi, Marina Bentivoglio, Daniele Filippo Condorelli
Summary: This study investigated the expression of neuronal Cx36 and astrocytic Cx30 and Cx43 mRNAs in the brain of rats after pilocarpine-induced status epilepticus (SE). The results showed a significant decrease in Cx43 and Cx30 mRNA levels 24 hours after SE onset in certain brain regions, indicating a potential protective response of neuroglial networks to SE-induced acute damage.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
Sebastian Curti, Federico Davoine, Antonella Dapino
Summary: In this article, the basic physical principles of electrical transmission between neurons and the plasticity of electrical synapses are reviewed. Circuits of electrically coupled neurons can perform sophisticated operations and can be modulated to alter circuit function.
Article
Biochemistry & Molecular Biology
Xiaoyu Liu, Mingru Bai, Yimin Sun, Xuchen Hu, Chenglin Wang, Jing Xie, Ling Ye
Summary: In osteoblasts, FGF7 promotes the expression of E11, leading to dendrites elongation and the formation of functional gap junctions through connexin43 (Cx43) interaction. This process is mediated by the MAPK pathway and PI3K-AKT pathway, suggesting a significant role of FGF7 in later stages of bone development and homeostasis.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES
(2021)
Article
Engineering, Biomedical
Hekai Li, Bin Yu, Pingzhen Yang, Jie Zhan, Xianglin Fan, Peier Chen, Xu Liao, Caiwen Ou, Yanbin Cai, Minsheng Chen
Summary: The study developed a hybrid gold nanoparticle-hyaluronic acid hydrogel matrix encapsulating hiPS-CMs to improve the immature phenotype and function of the cells for heart tissue regeneration post-myocardial infarction. The transplanted AuNP-HA-hydrogel-encapsulated-hiPS-CMs showed enhanced gap junction formation and electrical conduction in the infarcted mice heart, as well as stronger angiogenic effects contributing to the recovery process. This research provides insights into constructing an injectable biomimetic for structural and functional renovation of the injured heart.
Article
Chemistry, Multidisciplinary
Mustapha Najih, Audrey Basque, Ha Tuyen Nguyen, Mariama Diawara, Luc J. Martin
Summary: Gap junctions, mainly formed by Gja1, are important in the regulation of spermatogonia proliferation and differentiation. The expression of Gja1 is regulated through various processes, including gene transcription, mRNA maturation, protein synthesis, post-translational modifications, plasma membrane integration, and protein degradation. Abnormal decrease in Gja1 expression is observed in testicular germ cell tumors, suggesting a loss of cooperation between AP-1 factors. Jun and Fosl2 cooperate to activate the Gja1 promoter, and protein kinase A and calcium-calmodulin protein kinase I improve the cooperation between AP-1 factors.
APPLIED SCIENCES-BASEL
(2022)
Article
Cell Biology
Jing-Jun Zhao, Zheng-Hui Wang, Ying-Jie Zhang, Wen-Jing Wang, Ai-Fang Cheng, Pei-Jing Rong, Chun-Lei Shan
Summary: This study investigated the impact of auricular vagus nerve stimulation on the recovery of locomotor function in rats with cerebral ischemia/reperfusion injury. The findings suggested that the stimulation can promote recovery by altering the secretion of acetylcholine and inflammatory factors, as well as the phosphorylation of connexin 43.
NEURAL REGENERATION RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Jin Kono, Masakatsu Ueda, Atsushi Sengiku, Sylvia O. Suadicani, Osamu Ogawa, Hiromitsu Negoro
Summary: The study suggests that urothelial Cx43 mediated ATP signaling and coordination of urothelial activity are essential for proper perception and regulation of responses to bladder distension in the animals' awake, active phase. This research highlights the significant role of Cx43 in bladder function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Shiying Zhong, Conrad M. M. Kiyoshi, Yixing Du, Wei Wang, Yumeng Luo, Xiao Wu, Anne T. T. Taylor, Baofeng Ma, Sydney Aten, Xueyuan Liu, Min Zhou
Summary: Astrocytes transform into a spongiform morphology and express a high density of K+ conductance, enabling them to function as an isopotential syncytium in brain function. The spongiform morphology of individual astrocytes and their spatial organization reach stationary levels by postnatal day 15. Functionally, astrocytes begin to uniformly express a mature level of passive K+ conductance by postnatal day 11.
Article
Neurosciences
A. Recabal-Beyer, H. Tavakoli, J. M. M. Senecal, K. Stecina, J. I. Nagy
Summary: This study shows that there is extensive distribution of connexin36 (Cx36) in spinal sympathetic preganglionic neurons (SPNs) in adult and developing mouse and rat, highlighting the evidence of electrical coupling between these cells. Cx36 puncta were found along the entire length of the spinal thoracic intermediolateral cell column (IML) and associated with SPN dendritic processes. These findings suggest that SPNs are electrically coupled and innervated by other neurons.
Article
Biochemistry & Molecular Biology
E. Anne Martin, Jennifer Carlisle Michel, Jane S. Kissinger, Fabio A. Echeverry, Ya-Ping Lin, John O'Brien, Alberto E. Pereda, Adam C. Miller
Summary: The subcellular positioning and molecular compositions of synapses are crucial for neural circuits. This study investigates the localization of the autism- and epilepsy-associated gene Neurobeachin, the Connexins, and the electrical synapse scaffold ZO1. It is found that Neurobeachin localizes to the electrical synapse independently, and its presence is necessary for the localization of ZO1 and Connexins. This research provides new insights into the molecular complexity and mechanisms of electrical synapse formation.
Article
Cell Biology
Zuping Wu, Chenchen Zhou, Quan Yuan, Demao Zhang, Jing Xie, Shujuan Zou
Summary: CTGF promotes intercellular communication in chondrocytes through upregulating Cx43 expression and activating the PI3K/Akt signaling pathway.
CELL PROLIFERATION
(2021)
Article
Biochemistry & Molecular Biology
Mauricio Serrano-Rubi, Lidia Jimenez, Jacqueline Martinez-Rendon, Marcelino Cereijido, Arturo Ponce
Summary: Gap junctional intercellular communication is reduced in cancer cells compared to normal cells, but the plant-derived substance ouabain enhances this communication in various cancer cell lines through signaling mechanisms involving Csrc, ErK1/2, and ROCK-Rho. This finding suggests a potential therapeutic strategy for influencing cancer progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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
Clinical Neurology
Joanne Trinh, Andrew A. Hicks, Inke R. Koenig, Sylvie Delcambre, Theresa Lueth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilarino-Gueell, Faycel Hentati, Elisabeth L. Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostic, Anthony E. Lang, Norbert Brueggemann, Peter P. Pramstaller, Irene Pichler, Alex Rajput, Nobutaka Hattori, Matthew J. Farrer, Katja Lohmann, Hansi Weissensteiner, Patrick May, Christine Klein, Anne Gruenewald
Summary: Trinh et al. found that PINK1/PRKN mutations increase the risk of mitochondrial DNA variant accumulation in a dose- and disease-dependent manner. Monoallelic mutation carriers can be distinguished by the level of heteroplasmic mtDNA variants. Biallelic mutations in PINK1/PRKN lead to recessive Parkinson's disease.
Editorial Material
Cardiac & Cardiovascular Systems
Alessia Mongelli, Antonella Farsetti, Carlo Gaetano
EUROPEAN HEART JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Roberta Biasiotto, Maria Koesters, Katharina Tschigg, Peter P. Pramstaller, Norbert Brueggemann, Max Borsche, Christine Klein, Andrew A. Hicks, Deborah Mascalzoni
Summary: Recall-by-genotype (RbG) research involves recalling participants based on their genotype, potentially leading to disclosure of unwanted genetic information. A study on participant views and preferences regarding RbG research approach provides valuable insights for RbG policy development.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Francesca Di Leva, Michele Filosi, Lisa Oyston, Erica Silvestri, Anne Picard, Alexandros A. Lavdas, Evy Lobbestael, Veerle Baekelandt, G. Gregory Neely, Peter P. Pramstaller, Andrew A. Hicks, Corrado Corti
Summary: Autosomal dominant mutations in the gene encoding alpha-synuclein (SNCA) were the first to be linked with hereditary Parkinson's disease (PD). Duplication and triplication of SNCA has been observed in PD patients, together with mutations at the N-terminal of the protein, among which A30P and A53T influence the formation of fibrils. Our data show that the expression of alpha-synuclein and ITPKB is correlated in pathological situations, as observed in SK-N-SH cells and cortex from PD patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Antonella Farsetti, Barbara Illi, Carlo Gaetano
Summary: Epigenetics is a rapidly growing field of biology that explores the impact of chemical modifications on DNA and associated proteins, which can profoundly influence gene expression, tissue development, and disease susceptibility. Understanding epigenetic changes is crucial for comprehending the role of environmental and lifestyle factors in health and disease, as well as intergenerational transmission of traits. Epigenetics has shown to be critical in various diseases and offers potential therapeutic avenues, but also comes with risks and unintended consequences that necessitate rigorous research for safe and effective interventions. This article provides a synthetic and historical overview of epigenetics and its significant achievements.
EUROPEAN JOURNAL OF INTERNAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Manuela Loi, Stefano Bastianini, Giulia Candini, Nicola Rizzardi, Giorgio Medici, Valentina Papa, Laura Gennaccaro, Nicola Mottolese, Marianna Tassinari, Beatrice Uguagliati, Chiara Berteotti, Viviana Lo Martire, Giovanna Zoccoli, Giovanna Cenacchi, Stefania Trazzi, Christian Bergamini, Elisabetta Ciani
Summary: CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disease caused by mutations in the CDKL5 gene. Mouse models of CDD have helped understand the role of CDKL5 in brain development and function. This study reveals cardiac alterations in Cdkl5 +/- mice, including prolonged QT interval, increased heart rate, fibrosis, altered gap junction organization, mitochondrial dysfunction, and increased ROS production. These findings provide new insights into the function of CDKL5 in heart structure/function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(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
Multidisciplinary Sciences
Ryosuke Fujii, Roberto Melotti, Martin Gogele, Laura Barin, Dariush Ghasemi-Semeskandeh, Giulia Barbieri, Peter P. Pramstaller, Cristian Pattaro
Summary: It is unclear which eGFR equation is best for predicting increased CVD risk and if integrating multiple kidney function markers can improve prediction. Structural equation modeling was used to compare different kidney function indexes and eGFR equations in predicting 10-year incident CVD risk. A SEM-based estimate of latent kidney function showed better predictive performance than other models and eGFR formulas, but eGFRcys still had preferable performance for incident CVD risk prediction.
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.
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)
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)
Article
Biochemistry & Molecular Biology
Marzia De Bortoli, Viviana Meraviglia, Katarina Mackova, Laura S. Frommelt, Eva Konig, Johannes Rainer, Chiara Volani, Patrizia Benzoni, Maja Schlittler, Giada Cattelan, Benedetta M. Motta, Claudia Volpato, Werner Rauhe, Andrea Barbuti, Serena Zacchigna, Peter P. Pramstaller, Alessandra Rossini
Summary: This study used human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) to establish a model for incomplete penetrance in arrhythmogenic cardiomyopathy (ACM). The results showed molecular and functional differences between ACM and asymptomatic carriers of the same mutation (ASY) hiPSC-CMs, including a higher amount of mutated PKP2 mRNA, a lower expression of the connexin-43 protein, a lower overall density of sodium current, a higher intracellular lipid accumulation, and sarcomere disorganization in ACM compared to ASY hiPSC-CMs. Differentially expressed genes were also found, supporting a predisposition for a fatty phenotype in ACM hiPSC-CMs. This indicates that hiPSC-CMs are a suitable model to study incomplete penetrance in ACM.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Andrew B. Harvey, Renelyn A. Woltes, Raymond N. Deepe, Hannah G. Tarolli, Jenna R. Drummond, Allison Trouten, Auva Zandi, Jeremy L. Barth, Rupak Mukherjee, Martin J. Romeo, Silvia G. Vaena, Ge Tao, Robin Muise-Helmericks, Paula S. Ramos, Russell A. Norris, Andy Wessels
Summary: This study highlights the importance of SOX9 in the regulation of epicardial cell invasion and emphasizes the role of EPDCs in regulating atrioventricular valve development and homeostasis. It also reports a novel expression profile of Cd109, a gene with previously unknown relevance in heart development.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
MariaSanta C. Mangione, Jinhua Wen, Dian J. Cao
Summary: mTOR, a mechanistic target of rapamycin, is an evolutionarily conserved pathway that plays a fundamental role in nutrient sensing, growth, metabolism, lifespan, and aging. Recent studies have highlighted the regulatory role of mTOR in innate immune responses and its involvement in the pathogenesis of cardiovascular diseases, especially in acute inflammation and atherosclerotic cardiovascular disease. This review also discusses mTOR's role in trained immunity, immune senescence, and clonal hematopoiesis, as well as its architecture and regulatory complexes.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Junlin Li, Yajun Gong, Yiren Wang, Huihui Huang, Huan Du, Lianying Cheng, Cui Ma, Yongxiang Cai, Hukui Han, Jianhong Tao, Gang Li, Panke Cheng
Summary: Myocardial ischemia-reperfusion injury is closely related to the final infarct size in acute myocardial infarction. Regulatory T cells play an important role in the inflammatory response after AMI, but different subtypes of Tregs have different effects on the injury.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Yuxin Chu, Yutao Hua, Lihao He, Jin He, Yunxi Chen, Jing Yang, Ismail Mahmoud, Fanfang Zeng, Xiaochang Zeng, Gloria A. Benavides, Victor M. Darley-Usmar, Martin E. Young, Scott W. Ballinger, Sumanth D. Prabhu, Cheng Zhang, Min Xie
Summary: This study demonstrates that administering beta-hydroxybutyrate (beta-OHB) at the time of reperfusion can reduce infarct size and preserve cardiac function by activating autophagy and preserving mitochondrial homeostasis, potentially through mTOR inhibition.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2024)
