Review
Biochemistry & Molecular Biology
Coralie Croissant, Romain Carmeille, Charlotte Brevart, Anthony Bouter
Summary: Muscular dystrophies are genetic disorders characterized by weakening and loss of skeletal muscle mass. ANXA proteins are important for membrane repair in cells, and dysregulation of ANXA expression may impact the clinical severity of muscular dystrophies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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
Engineering, Biomedical
Nicolas Rose, Berenice Estrada Chavez, Surabhi Sonam, Thao Nguyen, Gianluca Grenci, Anne Bigot, Antoine Muchir, Benoit Ladoux, Bruno Cadot, Fabien Le Grand, Lea Trichet
Summary: We have developed a miniaturized 3D myotube culture chip that can monitor contraction at the single cell level. This technology requires significantly fewer starting materials than current systems and is crucial for evaluating the outcomes of therapeutic procedures for neuromuscular disorders.
Review
Cell & Tissue Engineering
Juan M. Fernandez-Costa, Xiomara Fernandez-Garibay, Ferran Velasco-Mallorqui, Javier Ramon-Azcon
Summary: Muscular dystrophies are a group of disabling disorders characterized by muscle degeneration, for which there is currently no effective cure. Recent advances in bioengineering have led to the development of bioartificial muscles and tools for drug screening in skeletal muscle tissue engineering.
JOURNAL OF TISSUE ENGINEERING
(2021)
Review
Immunology
Andrea Farini, Chiara Villa, Luana Tripodi, Mariella Legato, Yvan Torrente
Summary: Muscular dystrophies and inflammatory myopathies are muscular disorders characterized by progressive muscle weakness and mass loss, with shared features of inflammation and immune response. Immune mechanisms involved include complement cascade activation and auto-antibodies directed against muscular proteins.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Oncology
Massimo Ganassi, Francesco Muntoni, Peter S. Zammit
Summary: This study explores the effects of pathogenic mutations on satellite cell function in muscle diseases. The findings suggest that these mutations can directly or indirectly affect satellite cell function, leading to muscle pathology. The study introduces a classification of satellite cell-opathies, which helps in diagnosis, prognosis, and treatment development.
EXPERIMENTAL CELL RESEARCH
(2022)
Article
Multidisciplinary Sciences
Angelina M. Georgieva, Xinyue Guo, Marek Bartkuhn, Stefan Guenther, Carsten Kuenne, Christian Smolka, Ann Atzberger, Ulrich Gaertner, Kamel Mamchaoui, Eva Bober, Yonggang Zhou, Xuejun Yuan, Thomas Braun
Summary: The inactivation of protein deacetylase SIRT6 increases the expression of utrophin and improves dystrophic muscle pathology in mice, suggesting that epigenetic manipulation of utrophin expression could be a promising approach for the treatment of Duchenne Muscular Dystrophy (DMD).
NATURE COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Celine Bruge, Marine Geoffroy, Manon Benabides, Emilie Pellier, Evelyne Gicquel, Jamila Dhiab, Lucile Hoch, Isabelle Richard, Xavier Nissan
Summary: This study introduces a platform for modeling LGMD using hiPSC, providing a renewable and alternative source of skMC for studying LGMD.
Review
Biochemistry & Molecular Biology
Elena Abati, Emanuele Sclarandi, Giacomo Pietro Comi, Valeria Parente, Stefania Corti
Summary: Muscular dystrophies are a group of inherited diseases characterized by skeletal muscle degeneration and weakness, with no effective therapies currently available. Human induced pluripotent stem cells are promising tools for in vitro muscle research, used for genetic and pharmacological treatment screening.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Zaheer Ahmed, Rizwan Qaisar
Summary: This review highlights recent research on the application of nanomedicine in treating muscular dystrophies. The article discusses the history and broad applications of nanomedicine, as well as the use of nanoparticles for drug delivery, gene regulation, and editing to target Duchenne muscular dystrophy and myotonic dystrophy. The potential hindrances and limitations of using nanomedicine in cell culture and animal models are also addressed. Finally, the future perspectives for using nanomedicine in clinics for muscular dystrophies are summarized.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Clinical Neurology
Issa Alawneh, Ana Stosic, Hernan Gonorazky
Summary: This article discusses the study of limb girdle muscle dystrophies (LGMDs) using muscle magnetic resonance imaging (MRI) for diagnosis and understanding of the disease. A systematic review found that muscle MRI patterns have been described for 15 out of 17 types of LGMDs. Despite the challenging diagnosis of LGMDs, muscle MRI can aid in diagnosis. Larger cohorts of patients are needed to further enhance the application of muscle MRI in the neuromuscular field.
JOURNAL OF NEUROLOGY
(2023)
Review
Physiology
Qianghua Xia, Xubo Huang, Jieru Huang, Yongfeng Zheng, Michael E. March, Jin Li, Yongjie Wei
Summary: Skeletal muscle is rich in tissue composition, and autophagy plays a crucial role in energy generation, consumption, and substance turnover processes within it. Autophagy activity is tightly regulated by various signaling pathways and can lead to pathological cascades under abnormal conditions, interacting with other pathways.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Medicine, Research & Experimental
Gaetan Juban
Summary: Macrophages are crucial for muscle regeneration but their alteration can lead to muscle fibrosis in chronic diseases. Modulation of macrophage inflammatory status is an effective therapeutic strategy for improving muscle homeostasis.
M S-MEDECINE SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Javier Botella, Nicholas A. Jamnick, Cesare Granata, Amanda J. Genders, Enrico Perri, Tamim Jabar, Andrew Garnham, Michael Lazarou, David J. Bishop
Summary: Autophagy is an important mechanism for cells to degrade old or dysfunctional proteins and organelles. The effects of exercise on autophagosome content markers differ between rodents and humans. The decrease in LC3B-II protein levels induced by exercise in humans does not reflect a decreased autophagy flux.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Nicola Mosca, Sara Petrillo, Sara Bortolani, Mauro Monforte, Enzo Ricci, Fiorella Piemonte, Giorgio Tasca
Summary: Oxidative stress is a prominent factor in the pathophysiology of various muscle disorders, but specific mechanisms and targeted antioxidant therapies still require further research and clinical trials.