Article
Cardiac & Cardiovascular Systems
Kseniya Perepelina, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Kostareva
Summary: In this study, we successfully created an in vitro cardiac model of laminopathy using induced pluripotent stem cells from a patient carrying the LMNA p.R249Q genetic variant. Our findings demonstrate that this genetic variant leads to abnormal sodium currents in cardiomyocytes and alters the transcription levels of cardiac-specific genes.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cell Biology
Lorena Di Pietro, Flavia Giacalone, Elvira Ragozzino, Valentina Saccone, Federica Tiberio, Marco De Bardi, Mario Picozza, Giovanna Borsellino, Wanda Lattanzi, Enrico Guadagni, Sara Bortolani, Giorgio Tasca, Enzo Ricci, Ornella Parolini
Summary: In this study, non-myogenic mesenchymal stromal cell population in the muscles of facioscapulohumeral muscular dystrophy (FSHD) patients was characterized, revealing their significant role in muscle regeneration. Patient-derived cells showed a distinctive expression pattern of mesenchymal markers and impaired ability to differentiate into mature adipocytes. Accumulation of non-myogenic mesenchymal cells was observed in FSHD muscles with signs of disease activity and correlated with the extent of intramuscular fibrosis. These findings provide important insights into the pathogenesis of FSHD and may lead to the identification of novel therapeutic targets.
CELL DEATH & DISEASE
(2022)
Article
Biochemistry & Molecular Biology
Shufang Cai, Bin Hu, Qi Zhu, Tianqi Duo, Xiaoyu Wang, Xian Tong, Xiaorong Luo, Renqiang Yuan, Yaosheng Chen, Jing Wang, Chenglong Luo, Baosong Xing, Delin Mo
Summary: Delving into porcine embryonic myogenesis is crucial for understanding the complex regulation of breed-specific differences in growth performance and meat production. This study reveals that pigs with less meat production exhibit earlier embryonic myogenesis, and the Notch signaling pathway plays a crucial role in regulating myogenic progenitor maintenance and differentiation. Inhibition of Notch signaling promotes myogenic differentiation and accelerates the process of myogenic progenitors differentiating into myoblasts. These findings provide valuable insights into the underlying mechanisms of breed-specific differences in meat production.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA
(2022)
Article
Cell Biology
Joe Ibarra, Tyler Hershenhouse, Luay Almassalha, David Walterhouse, Vadim Backman, Kyle L. Macquarrie
Summary: The study found chromosome-specific differences in the organizational characteristics of chromosomes during normal myogenesis, with chromosome 2 showing increased area occupation and a shift in peripheral localization. Additionally, it was discovered that the positioning of chromosome 2 changes during differentiation, with a preference for positioning along the major nuclear axis only in myotubes, whereas RMS cells do not display such preference.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Simone Aparecida de Bessa Garcia, Mafalda Araujo, Tiago Pereira, Renata Freitas
Summary: HOX genes play a role in breast cancer progression depending on molecular subtypes, with HOXB7 overexpression potentially promoting less aggressive phenotypes in Triple-Negative breast cancer cells.
Article
Medicine, Research & Experimental
Brian C. Belyea, Fang Xu, Margaret Wiltsie, Hayes Fountain, Jennifer Charlton, Agnes B. Fogo, Maria Luisa Soledad Sequeira-Lopez, Roberto Ariel Gomez
Summary: Polycystic kidney disease is a genetic disorder that leads to large kidneys, fluid-filled cysts, and kidney failure. This study reveals that the Notch signaling pathway plays a central role in the development of polycystic kidney disease, and suggests that targeting the Notch-Myc axis could be a potential therapeutic intervention.
Article
Medicine, Research & Experimental
Brian C. Belyea, Fang Xu, Margaret Wiltsie, Hayes Fountain, Jennifer Charlton, Agnes B. Fogo, Maria Luisa Soledad Sequeira-Lopez, Roberto Ariel Gomez
Summary: Polycystic kidney disease (PKD) is a genetic disorder characterized by enlarged kidneys, fluid-filled cysts, and end-stage kidney disease. This study reveals the crucial role of the Notch signaling pathway in the pathogenesis of PKD and suggests that targeting the Notch-Myc axis could be a potential therapeutic approach.
Article
Multidisciplinary Sciences
P. Nayak, A. Colas, M. Mercola, S. Varghese, S. Subramaniam
Summary: This research compares the transcriptomic profiles of hiPSC lines of different myogenic specification levels, revealing temporal differences and the role of β-catenin transcriptional cofactors in mediating cellular interactions and external cues during differentiation.
Article
Biochemistry & Molecular Biology
Mengxun Li, Quan Liu, Su Xie, Chong Fu, Jiaxuan Li, Cheng Tian, Xin Li, Changchun Li
Summary: In this study, it was found that the lncRNA TCONS_00323213 is upregulated during porcine skeletal muscle satellite cell (PSC) differentiation and plays a role in the proliferation and differentiation of PSC. The interaction between TCONS_00323213 and PKNOX2 promotes the expression of MyoG and enhances PSC differentiation. This finding provides insights into the molecular mechanisms by which lncRNAs regulate porcine myogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell & Tissue Engineering
Congshan Sun, Suraj Kannan, In Young Choi, HoTae Lim, Hao Zhang, Grace S. Chen, Nancy Zhang, Seong-Hyun Park, Carlo Serra, Shama R. Iyer, Thomas E. Lloyd, Richard M. Lovering, Su Bin Lim, Peter Andersen, Kathryn R. Wagner, Gabsang Lee, Chulan Kwon
Summary: Human pluripotent stem cell (hPSC)-derived myogenic progenitor cell (MPC) transplantation can contribute to muscle fiber regeneration in mice, providing a proof of principle for future hPSC-based cell therapy for muscle disorders.
Article
Ophthalmology
Yang Liu, Xin Wang, Ruowen Gong, Gezhi Xu, Min Zhu
Summary: Overexpression of WT RHO and its mutants leads to energy failure and cell death, with distinct impacts on the two energy metabolic pathways.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Multidisciplinary Sciences
Chujiao Lin, Qiyuan Yang, Dongsheng Guo, Jun Xie, Yeon-Suk Yang, Sachin Chaugule, Ngoc DeSouza, Won-Taek Oh, Rui Li, Zhihao Chen, Aijaz A. John, Qiang Qiu, Lihua Julie Zhu, Matthew B. Greenblatt, Sankar Ghosh, Shaoguang Li, Guangping Gao, Cole Haynes, Charles P. Emerson, Jae-Hyuck Shim
Summary: This study demonstrates that mitochondrial oxidative phosphorylation is the major energy source for osteogenesis of skeletal progenitors. Deletion of ECSIT hinders bone formation and regeneration, resulting in skeletal deformity and defects in the bone marrow niche.
NATURE COMMUNICATIONS
(2022)
Article
Chemistry, Multidisciplinary
Inseon Kim, Seunghun S. Lee, Adhideb Ghosh, Stephen J. Ferguson, Ori Bar-Nur
Summary: This study presents an engineered biomimetic muscle construct that can self-regenerate and produce aligned myotubes using induced myogenic progenitor cells. The construct faithfully recapitulates a step-wise myogenic differentiation program and can rapidly differentiate into aligned myotubes within the constructs when subjected to a damaging myonecrotic agent. This work showcases the potential for translational applicability in regenerative medicine.
ADVANCED FUNCTIONAL MATERIALS
(2023)
Article
Biochemistry & Molecular Biology
Aiping Lu, Ping Guo, Haiying Pan, Chieh Tseng, Krishna M. Sinha, Fan Yang, Alex Scibetta, Yan Cui, Matthieu Huard, Ling Zhong, Sudheer Ravuri, Johnny Huard
Summary: Research shows that pregnant mice demonstrate accelerated muscle healing, superior muscle regeneration, and reduced inflammation and necrosis following muscle injury. Additionally, MPCs from pregnant mice display improved myogenic differentiation capacity in vitro and muscle regeneration in vivo.
Article
Nutrition & Dietetics
Tzyh-Chyuan Hour, Thi Cam Tien Vo, Chih-Pin Chuu, Hsi-Wen Chang, Ying-Fang Su, Chung-Hwan Chen, Yu-Kuei Chen
Summary: This study found that quercetin can promote the migration and differentiation of muscle cells by activating specific signaling pathways. This has important implications for muscle regeneration and functional recovery.
Article
Biochemistry & Molecular Biology
Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cecile Acquaviva Bourdain, Corinne Metay, Isabelle Richard, Mathieu Cerino, Mathieu Milh, Emmanuelle Campana-Salort, Svetlana Gorokhova, Nicolas Levy, Xenia Latypova, Gisele Bonne, Valerie Biancalana, Francois Petit, Annamaria Molon, Aurelien Perrin, Pascal Laforet, Shahram Attarian, Martin Krahn, Mireille Cossee
Summary: The implementation of high-throughput diagnostic sequencing has led to challenges in interpretation of mutational data, calling for prioritization of gene analysis in diagnostic and management settings. Objective assessment of clinical actionability of genes in myopathies using ClinGen scoring method provided important insights for diagnostic approaches and genetic disease management.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Agriculture, Dairy & Animal Science
Marie Abitbol, Vidhya Jagannathan, Marie Lopez, Ambre Courtin, Caroline Dufaure de Citres, Vincent Gache, Tosso Leeb
Summary: Congenital coat-colour-related deafness is common in certain canine breeds. A non-syndromic deafness in Beauceron dogs was identified, which is not linked to coat colour. A CDH23:c.700C>T variant was found in affected dogs, and it can be easily detected with a genetic test to prevent at-risk matings.
Meeting Abstract
Clinical Neurology
L. Benarroch, A. Bertrand, M. Beuvin, I. Nelson, N. Naouar, F. Simonet, C. Dina, C. Pionneau, J. Schott, R. Ben Yaou, G. Bonne
NEUROMUSCULAR DISORDERS
(2022)
Meeting Abstract
Clinical Neurology
R. Ben Yaou, F. Anselme, A. De Sande-Giovannoli, E. Campanna-Salort, P. Charron, C. Chikhaoui, I. Jeru, F. Labombarda, F. Leturcq, S. Quijano-Roy, C. Stalens, P. Richard, C. Vigouroux, G. Bonne, K. Wahbi
NEUROMUSCULAR DISORDERS
(2022)
Article
Clinical Neurology
Louise Benarroch, Gisele Bonne, Francois Rivier, Dalil Hamroun
NEUROMUSCULAR DISORDERS
(2023)
Editorial Material
Clinical Neurology
Juliette Svahn, Laurent Coudert, Nathalie Streichenberger, Alexandra Kraut, Alice Gravier-Dumonceau-Mazelier, Ludivine Rotard, Laurence Calemard-Michel, Rita Menassa, Elisabeth Errazuriz-Cerda, Lara Chalabreysse, Alexis Osseni, Christophe Vial, Laurentiu Jomir, Francois Tronc, Do Le Duy, Emilien Bernard, Vincent Gache, Yohann Coute, Vincent Jacquemond, Laurent Schaeffer, Pascal Leblanc
Summary: This study reports a case of acquired autoimmune rippling muscle disease (iRMD) associated with thymoma and AchR antibody negativity. The patient was found to have circulating MURC/Cavin-4 autoantibodies, and the histological features of the patient's muscles were similar to those commonly reported in caveolinopathies. After tumor resection and immunotherapy, the levels of autoantibodies significantly decreased, the rippling phenotype disappeared completely, and the patient achieved full remission. Therefore, MURC/Cavin-4 autoantibodies may play a pathogenic role in the development of paraneoplastic iRMD associated with thymoma.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Article
Clinical Neurology
Tanya Stojkovic, Marion Masingue, Corinne Metay, Norma B. Romero, Bruno Eymard, Rabah Ben Yaou, Laetitia Rialland, Severine Drunat, Corine Gartioux, Isabelle Nelson, Valerie Allamand, Gisele Bonne, Rocio Nur Villar-Quiles
Summary: We report three siblings with a contractural limb-girdle phenotype and intrafamilial variability in a non-consanguineous family. Muscle MRI revealed involvement of the posterior thigh and quadriceps with a sandwich-like sign. Whole exome sequencing identified two compound heterozygous missense TTN variants and one heterozygous LAMA2 variant. Further brain MRI revealed white-matter abnormalities, and genetic analysis confirmed a novel pathogenic intronic LAMA2 variant for the LAMA2-RD diagnosis. This work emphasizes the importance of comprehensive clinical phenotyping and brain imaging to guide and interpret genetic analysis.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Letter
Hematology
Ariane Lunati-Rozie, Alexandre Janin, Emmanuelle Faubert, Severine Nony, Celine Renoux, Manuel D. Carcao, Pascale Fanen, Benoit Funalot, Lamisse Mansour-Hendili, Philippe Joly
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Laurane Mackels, Xincheng Liu, Gisele Bonne, Laurent Servais
Summary: Human TOR1AIP1 encodes LAP1, a nuclear envelope protein expressed in most human tissues, which has been linked to various human diseases. Mutations in TOR1AIP1 is associated with diseases such as muscular dystrophy, congenital myasthenic syndrome, cardiomyopathy, and multisystemic disease. Understanding LAP1 and mutant TOR1AIP1-associated phenotypes is crucial for therapeutic development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Fabrice Gonnot, Laura Boulogne, Camille Brun, Maya Dia, Yves Gouriou, Gabriel Bidaux, Christophe Chouabe, Claire Crola Da Silva, Sylvie Ducreux, Bruno Pillot, Andrea Kaczmarczyk, Christelle Leon, Stephanie Chanon, Coralie Perret, Franck Sciandra, Tanushri Dargar, Vincent Gache, Fadi Farhat, Laurent Sebbag, Thomas Bochaton, Helene Thibault, Michel Ovize, Melanie Paillard, Ludovic Gomez
Summary: Despite advancements in cardioprotection, novel therapeutic approaches are still required to prevent ischemia-reperfusion injury in patients. This study reveals that phosphorylation of sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA2) at serine 663 is a clinical and pathophysiological event affecting cardiac function. Inhibition of serine 663 phosphorylation enhances SERCA2 activity, mitigates cell death, and counteracts cytosolic and mitochondrial Ca2+ overload. These findings enhance our understanding of excitation/contraction coupling in cardiomyocytes and highlight the therapeutic potential of SERCA2 modulation in acute myocardial infarction.
NATURE COMMUNICATIONS
(2023)
Article
Cell Biology
Louise Benarroch, Julia Madsen-Osterbye, Mohamed Abdelhalim, Kamel Mamchaoui, Jessica Ohana, Anne Bigot, Vincent Mouly, Gisele Bonne, Anne T. T. Bertrand, Philippe Collas
Summary: The ability to recapitulate muscle differentiation in vitro allows for the study of mechanisms underlying myogenesis and muscle diseases. Converting skin fibroblasts into myogenic cells shows promise as an alternative to obtaining myoblasts from patients, but there are still limitations to overcome. In this study, the cellular phenotype, transcriptome, and nuclear lamina-associated domains (LADs) were compared between myo-converted fibroblasts and myotubes. The results highlight the potential of myo-converted fibroblasts as a practical model for studying muscle cell differentiation, but also emphasize the current limitations of using fibroblasts as a source of myogenic cells.
Meeting Abstract
Biophysics
Abigail Illand, Pierre Jouchet, Celine Malleval, Vincent Gache, Karine Monier, Emmanuel Fort, Sandrine Leveque-Fort
BIOPHYSICAL JOURNAL
(2023)
Correction
Clinical Neurology
Juliette Svahn, Laurent Coudert, Nathalie Streichenberger, Alexandra Kraut, Alice Gravier-Dumonceau-Mazelier, Ludivine Rotard, Laurence Calemard-Michel, Rita Menassa, Elisabeth Errazuriz-Cerda, Lara Chalabreysse, Alexis Osseni, Christophe Vial, Laurentiu Jomir, Francois Tronc, Do Le Duy, Emilien Bernard, Vincent Gache, Yohann Coute, Vincent Jacquemond, Laurent Schaeffer, Pascal Leblanc
Summary: This study reports a case of acquired autoimmune rippling muscle disease (iRMD) associated with thymoma and negative for AChR antibody. Circulating MURC/Cavin-4 autoantibodies were identified in the patient, and histologic features of the patient's muscle resembled those commonly reported in caveolinopathies. Interestingly, the titer of MURC/Cavin-4 autoantibodies decreased significantly after tumor resection and immunotherapy, leading to complete remission of the rippling phenotype.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Meeting Abstract
Cardiac & Cardiovascular Systems
M. Levy, A. Janin, O. Marmontel, A. Fourier, S. Nony, C. Bouveyron, A. Rimbert, B. Cariou, S. Villar-Fimbel, S. Charriere, P. Moulin, M. Di Filippo
Meeting Abstract
Cardiac & Cardiovascular Systems
X. Vanhoye, A. Janin, A. Caillaud, A. Rimbert, F. Venet, M. Gosset, W. Dijk, O. Marmontel, S. Nony, C. Chatelain, P. Lindenbaum, B. Cariou, P. Moulin, M. Di Filippo