Article
Immunology
Laura Yedigaryan, Ester Martinez-Sarra, Giorgia Giacomazzi, Nefele Giarratana, Bernard K. van der Veer, Alessio Rotini, Silvia Querceto, Hanne Grosemans, Alvaro Cortes-Calabuig, Sara Salucci, Michela Battistelli, Elisabetta Falcieri, Rik Gijsbers, Mattia Quattrocelli, Kian Peng Koh, Liesbeth De Waele, Gunnar M. Buyse, Rita Derua, Maurilio Sampaolesi
Summary: This study identifies an extracellular vesicle-derived miRNA signature that enhances the myogenic potential of myogenic stem cells, leading to improvements in muscle degeneration and muscle wasting related diseases.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Cell & Tissue Engineering
Kristen M. Stearns-Reider, Michael R. Hicks, Katherine G. Hammond, Joseph C. Reynolds, Alok Maity, Yerbol Z. Kurmangaliyev, Jesse Chin, Adam Z. Stieg, Nicholas A. Geisse, Sophia Hohlbauch, Stefan Kaemmer, Lauren R. Schmitt, Thanh T. Pham, Ken Yamauchi, Bennett G. Novitch, Roy Wollman, Kirk C. Hansen, April D. Pyle, Rachelle H. Crosbie
Summary: We developed a method to generate acellular extracellular matrix (ECM) myoscaffolds that can be repopulated with different cell types for studying cell-ECM interactions. We investigated whether fibrotic ECM scarring affected the functions of human skeletal muscle progenitor cells (SMPCs) essential for muscle regeneration. SMPCs demonstrated reduced adhesion, motility, and differentiation on fibrotic myoscaffolds, indicating the impact of fibrotic scars on their functions. The excessive collagen deposition in dystrophic muscle was found to be compensatory rather than pathological, and ECM remodeling was important for efficient SMPC engraftment and cell therapy.
NPJ REGENERATIVE MEDICINE
(2023)
Review
Health Care Sciences & Services
Charis L. Himeda, Peter L. Jones
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is a challenging genetic disease caused by epigenetic dysregulation. Therapeutic strategies for FSHD include small molecules, oligonucleotide therapeutics, and CRISPR-based approaches. This article evaluates the progress of each approach in preclinical studies.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Cell & Tissue Engineering
Ayberk Akat, Erdal Karaoz
Summary: Cellular therapies have shown potential as a new and effective treatment modality for Duchenne Muscular Dystrophy (DMD), however further research is needed to determine the most advantageous treatment approach and therapeutic capacity.
STEM CELL REVIEWS AND REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Xiaokai Li, Zhining Zhong, Ruowei Zhang, Jiaman Zhang, Yu Zhang, Sha Zeng, Qinjiao Du, Haoming Wang, Songling Zhang, Lu Lu, Mingzhou Li, Keren Long
Summary: In this study, a muscular dystrophy mouse model was created by Ptrf knockout, and single-nucleus RNA sequencing was used to investigate the transcriptional changes in skeletal muscle. The study revealed significant alterations in the transcriptome of different types of muscle fibers and mononuclear cells in response to muscular dystrophy, providing valuable insights into the molecular mechanisms of muscular dystrophy.
Article
Biochemistry & Molecular Biology
Yuri Fujikura, Hidetoshi Sugihara, Masaki Hatakeyama, Katsutaka Oishi, Keitaro Yamanouchi
Summary: A study showed that a ketogenic diet with medium-chain triglycerides (MCT-KD) significantly improved genetically mutated Duchenne muscular dystrophy in model rats by increasing muscle strength and fiber diameter, suppressing muscle necrosis, inflammation, and fibrosis, promoting the proliferation of muscle satellite cells, and improving muscle strength even at the age of 9 months. Further research is needed to understand the mechanisms underlying the improvement of Duchenne muscular dystrophy induced by MCT-KD.
Article
Biochemistry & Molecular Biology
Zsofia Onodi, Petra Lujza Szabo, Daniel Kucsera, Peter Pokreisz, Christopher Dostal, Karlheinz Hilber, Gavin Y. Oudit, Bruno K. Podesser, Peter Ferdinandy, Zoltan V. Varga, Attila Kiss
Summary: Duchenne muscular dystrophy (DMD) is a muscle wasting disease characterized by difficulty moving and premature death, mainly due to heart failure. Inflammation is thought to play a role in the disease progression, but the specific mechanisms are not well understood.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Yu Zhang, Takahiko Nishiyama, Eric N. Olson, Rhonda Bassel-Duby
Summary: Muscular dystrophies are a group of neuromuscular disorders with genetic causes that lead to muscle loss and degeneration. The CRISPR/Cas system offers a new path for treatment, potentially correcting genetic mutations permanently and benefiting skeletal muscle due to its post-mitotic and multinucleated features. However, challenges remain for translating CRISPR/Cas genome editing into a viable therapy for muscular dystrophies.
EXPERIMENTAL CELL RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Jessica M. Motherwell, Connor P. Dolan, Sergey S. Kanovka, Jorge B. Edwards, Sarah R. Franco, Naveena B. Janakiram, Michael S. Valerio, Stephen M. Goldman, Christopher L. Dearth
Summary: The use of a rehabilitation approach that promotes regeneration has the potential to improve the efficacy of pro-regenerative therapies and maximize functional outcomes in the treatment of volumetric muscle loss (VML). An adjunct antifibrotic treatment could further enhance functional gains by reducing fibrotic scarring. However, a study found that losartan treatment as an adjunct therapy to a regenerative rehabilitation strategy negatively impacts muscular function and fails to promote myogenesis following VML injury.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Gastroenterology & Hepatology
Andrea Frudinger, Annett Gauruder-Burmester, Wilhelm Graf, Jan -Peter Lehmann, Ulf Gunnarsson, Minko Mihov, Peter Ihnat, Pavle Kosorok, Julius Orhalmi, Petr Slauf, Anton Emmanuel, Vladislav Hristov, Anna Jungwirthova, Paul -Antoine Lehur, Andreas Mueller, Melanie Amort, Rainer Marksteiner, Marco Thurner
Summary: This study suggests that injection of autologous skeletal muscle-derived cells can significantly improve fecal incontinence, particularly in patients with limited duration and high frequency of fecal incontinence at baseline. This could become a valuable tool for treatment of fecal incontinence.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Multidisciplinary Sciences
Michael J. Stec, Qi Su, Christina Adler, Lance Zhang, David R. Golann, Naveen P. Khan, Lampros Panagis, S. Armando Villalta, Min Ni, Yi Wei, Johnathon R. Walls, Andrew J. Murphy, George D. Yancopoulos, Gurinder S. Atwal, Sandra Kleiner, Gabor Halasz, Mark W. Sleeman
Summary: Using spatial transcriptomics and single-cell RNA sequencing datasets, a high-resolution cellular and molecular spatial atlas of the severely dystrophic D2-mdx mouse model was generated. Clustering analysis revealed the nonuniform distribution of unique cell populations associated with multiple regenerative timepoints, faithfully recapitulating the asynchronous regeneration observed in human DMD muscle. Through spatiotemporal gene expression signatures, it was found that propagation of inflammatory and fibrotic signals from locally damaged areas contributes to widespread pathology and identifying targetable pathways for DMD therapy within discrete microenvironments. Overall, this spatial atlas of dystrophic muscle provides a valuable resource for studying DMD disease biology and therapeutic target discovery.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biology
Arantxa Baraibar-Churio, Miriam Bobadilla, Florencio J. D. Machado, Neira Sainz, Carmen Roncal, Gloria Abizanda, Felipe Prosper, Josune Orbe, Ana Perez-Ruiz
Summary: The study reveals that MMP-10 plays a role in the progression of severe muscular dystrophy, and its loss affects the pathological condition of muscles, leading to reduced survival rates in aged mdx mice.
Article
Clinical Neurology
Nobuyuki Eura, Satoru Noguchi, Masashi Ogasawara, Theerawat Kumutpongpanich, Shinichiro Hayashi, Ichizo Nishino
Summary: This study identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history, which will help in appropriate intervention based on the diagnosis of OPDM.
JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Chady H. Hakim, Sandeep R. P. Kumar, Dennis O. Perez-Lopez, Nalinda B. Wasala, Dong Zhang, Yongping Yue, James Teixeira, Xiufang Pan, Keqing Zhang, Emily D. Million, Christopher E. Nelson, Samantha Metzger, Jin Han, Jacqueline A. Louderman, Florian Schmidt, Feng Feng, Dirk Grimm, Bruce F. Smith, Gang Yao, N. Nora Yang, Charles A. Gersbach, Shi-jie Chen, Roland W. Herzog, Dongsheng Duan
Summary: The study investigates the immune responses induced by AAV-CRISPR therapy in canine models of DMD, indicating that the Cas9-specific T cell response may pose a critical barrier to treatment.
NATURE COMMUNICATIONS
(2021)
Article
Neurosciences
Valentina Taglietti, Kaouthar Kefi, Iwona Bronisz-Budzynska, Busra Mirciloglu, Mathilde Rodrigues, Nastasia Cardone, Fanny Coulpier, Baptiste Periou, Christel Gentil, Melissa Goddard, Francois-Jerome Authier, France Pietri-Rouxel, Edoardo Malfatti, Peggy Lafuste, Laurent Tiret, Frederic Relaix
Summary: A rat model for Duchenne muscular dystrophy (DMD) with a complete lack of dystrophin protein was generated, which recapitulated the pathophysiological trajectory of human DMD more faithfully than the mouse model. The model exhibited progressive and severe skeletal muscle loss, fibrotic deposition, fat infiltration, and functional impairments leading to premature death. The study also identified a specific biomarker that could optimize the prognostic monitoring of functional improvement in DMD patients.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Infectious Diseases
Ingo Riederer, Daniella Areas Mendes-da-Cruz, Guilherme Cordenonsi da Fonseca, Mariela Natacha Gonzalez, Otavio Brustolini, Cassia Rocha, Guilherme Loss, Joseane Biso de Carvalho, Mariane Talon Menezes, Lidiane Menezes Souza Raphael, Alexandra Gerber, Myrna Cristina Bonaldo, Gillian Butler-Browne, Vincent Mouly, Vinicius Cotta-de-Almeida, Wilson Savino, Ana Tereza Ribeiro de Vasconcelos
Summary: This study investigated the mechanisms of Zika virus infection in human skeletal muscle using an in vitro model. The research found that myoblasts are permissive to ZIKV infection, while myotubes control viral replication. Gene expression profiling revealed differences between infected myoblasts and myotubes, with the latter showing pathways related to antiviral and innate immune responses. This study sheds light on potential antiviral mechanisms against ZIKV infection in skeletal muscle.
PLOS NEGLECTED TROPICAL DISEASES
(2022)
Article
Geriatrics & Gerontology
Mona Bensalah, Laura Muraine, Alexis Boulinguiez, Lorenzo Giordani, Victorine Albert, Victor Ythier, Jamila Dhiab, Alison Oliver, Valentine Hanique, Teresa Gidaro, Sophie Perie, Jean Lacau St-Guily, Aurelien Corneau, Gillian Butler-Browne, Anne Bigot, Vincent Mouly, Elisa Negroni, Capucine Trollet
Summary: This study explored the role of nonmyogenic cells (fibroadipogenic progenitors, FAPs) in human fibrotic muscles and found that FAPs from fibrotic muscles have a higher proliferation rate compared to those from nonfibrotic muscles, which leads to impaired fusion index when cocultured with muscle cells. The study also identified endothelin as a potential target to counteract human muscle fibrosis through a paracrine signaling pathway.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Clinical Neurology
Fanny Roth, Jamila Dhiab, Alexis Boulinguiez, Hadidja-Rose Mouigni, Saskia Lassche, Elisa Negroni, Laura Muraine, Alix Marhic, Alison Oliver, Jeanne Laine, Andree Rouche, Erin K. O'Ferrall, Baziel van Engelen, Coen Ottenheijm, Hagar Greif, Sergiu Blumen, Jean Lacau St Guily, Sophie Perie, Gillian Butler-Browne, Vincent Mouly, Capucine Trollet
Summary: In this study, the authors conducted a comprehensive analysis of PABPN1 aggregates in human muscle biopsy samples. They found that age and genotype influence the formation of PABPN1 aggregates, and identified new components of these aggregates. They also observed larger aggregates in myonuclei and fewer aggregates in the pharyngeal muscle. In addition, they confirmed the presence of PABPN1 aggregates during muscle fiber regeneration using a xenograft model. These findings contribute to our understanding of the pathophysiology of OPMD.
ACTA NEUROPATHOLOGICA
(2022)
Article
Pathology
Alexandra Monceau, Dylan Moutachi, Megane Lemaitre, Luis Garcia, Capucine Trollet, Denis Furling, Arnaud Klein, Arnaud Ferry
Summary: This study evaluated the impact of voluntary exercise on gene therapy exon skipping approach in a severe DMD murine model. The results showed that voluntary running did not induce muscle damage and did not have a drastic detrimental effect on the gene therapy method. Moreover, these findings suggest considering exercise as an additional factor in future therapeutic approaches for DMD.
AMERICAN JOURNAL OF PATHOLOGY
(2022)
Article
Clinical Neurology
Alexandrine Mahoudeau, Celine Anquetil, Nozomu Tawara, Hossein Khademian, Damien Amelin, Lois Bolko, Marco Silvestro, Julian Dal Cin, Berenice Tendrel, Virginie Tardif, Kuberaka Mariampillai, Gillian Butler-Browne, Olivier Benveniste, Yves Allenbach
Summary: This study found that myostatin protein and RNA levels are decreased in patients with idiopathic inflammatory myopathies (IIM), and the protein levels correlate with disease activity. In inactive patients with antisynthetase syndrome (ASyS) and dermatomyositis (DM), myostatin levels are higher than in active patients. However, in immune-mediated necrotising myopathies (IMNM), myostatin levels do not significantly increase after disease remission, suggesting a new pathological mechanism in IMNM patients.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Correction
Cell Biology
Leandro Ladislau, Debora M. Portilho, Tristan Courau, Alhondra Solares-Perez, Elisa Negroni, Jeanne Laine, David Klatzmann, Adriana Bonomo, Yves Allenbach, Olivier Benveniste, Ingo Riederer, Wilson Savino, Vincent Mouly, Gillian Butler-Browne, Claudia F. Benjamim
CELL DEATH & DISEASE
(2022)
Article
Cell Biology
Elisa Negroni, Maria Kondili, Laura Muraine, Mona Bensalah, Gillian Sandra Butler-Browne, Vincent Mouly, Anne Bigot, Capucine Trollet
Summary: Skeletal muscle is a highly plastic tissue that participates in the maintenance, regeneration, and repair of muscles through the interaction and communication of heterogeneous cell populations. Fibro-Adipogenic Progenitors (FAPs) are crucial in muscle homeostasis and regeneration, as they interact with other cells and dynamically remodel the extracellular matrix.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Pharmacology & Pharmacy
Laura Muraine, Mona Bensalah, Gillian Butler -Browne, Anne Bigot, Capucine Trollet, Vincent Mouly, Elisa Negroni
Summary: Fibrosis, the excessive accumulation of extracellular matrix, occurs in many muscle disorders and interferes with muscle regeneration and gene therapies. Slowing down or reversing fibrosis is crucial for maintaining muscle function. Various therapeutic compounds targeting fibrogenic signals have been tested in muscle diseases, particularly in Duchenne Muscular Dystrophy. This review provides an overview of pharmacotherapies tested to reduce fibrosis in skeletal muscle.
CURRENT OPINION IN PHARMACOLOGY
(2023)
Article
Medicine, Research & Experimental
Alexis Boulinguiez, Fany Roth, Hadidja Rose Mouigni, Gillian Butler-Browne, Vincent Mouly, Capucine Trollet
Summary: This study focuses on the basic research of oculopharyngeal muscular dystrophy (OPMD), which is a disease caused by trinucleotide expansions. The presence of aggregates within muscle fiber nuclei is believed to play a crucial role in the pathogenesis of OPMD. Understanding their composition and deleterious effects can lead to new therapeutic approaches.
M S-MEDECINE SCIENCES
(2023)
Article
Biochemical Research Methods
Luca Pinton, Moustafa Khedr, Valentina M. Lionello, Shilpita Sarcar, Sara M. Maffioletti, Sumitava Dastidar, Elisa Negroni, SungWoo Choi, Noreen Khokhar, Anne Bigot, John R. Counsell, Andreia Sofia Bernardo, Peter S. Zammit, Francesco Saverio Tedesco
Summary: This article presents a protocol for the modular 3D bioengineering of multilineage skeletal muscles from human induced pluripotent stem cells, and provides assays to characterize morphological and functional features of the artificial muscle constructs. These bioengineered muscles have the ability to recapitulate morphological and functional features of human skeletal muscle, making them a powerful tool for studying muscle pathology and developing neuromuscular and musculoskeletal therapies.