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| http://dx.doi.org/10.1093/hmg/ddv169 | DOI Listing |
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Expansion and pathogenic activation of skeletal muscle-resident macrophages in mice.
Proc Natl Acad Sci U S A
March 2025
Department of Neurology, Hospital for Special Surgery, New York, NY 10021.
Infiltrating macrophages contribute to muscle dystrophic changes in Duchenne muscular dystrophy (DMD). In a DMD mouse model, mice, CC chemokine receptor type 2 (CCR2) deficiency diminishes Ly6C macrophage infiltration by blocking blood Ly6C inflammatory monocyte recruitment. This is accompanied by transient improvement of muscle damage, fibrosis, and regeneration.
View Article and Find Full Text PDFEngineered human myogenic cells in hydrogels generate innervated vascularized myofibers within dystrophic mouse muscle on long-term engraftment.
Cell Rep Med
March 2025
Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK; Stem Cell Laboratory, National Bowel Research Centre, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, 2 Newark Street, London E1 2AT, UK; Centre for Predictive in vitro Models, Queen Mary University of London, Mile End Road, London E1 4NS, UK. Electronic address:
Transplantation of human myogenic progenitor cells (MPCs) is a promising therapeutic strategy for treating muscle-wasting diseases, e.g., Duchenne muscular dystrophy (DMD).
View Article and Find Full Text PDFPolyplex Nanomicelle-Mediated Pgc-1α4 mRNA Delivery Via Hydrodynamic Limb Vein Injection Enhances Damage Resistance in Duchenne Muscular Dystrophy Mice.
Adv Sci (Weinh)
March 2025
Department of Biofunction Research, Laboratory for Biomaterials and Bioengineering, Institute of Integrated Research, Institute of Science Tokyo, Tokyo, 101-0062, Japan.
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, leading to the absence of dystrophin and progressive muscle degeneration. Current therapeutic strategies, such as exon-skipping and gene therapy, face limitations including truncated dystrophin production and safety concerns. To address these issues, a novel mRNA-based therapy is explored using polyplex nanomicelles to deliver mRNA encoding peroxisome proliferator-activated receptor gamma coactivator 1 alpha isoform 4 (PGC-1α4) via hydrodynamic limb vein (HLV) administration.
View Article and Find Full Text PDFIdentification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report.
J Med Case Rep
March 2025
Faculty of Medicine, Saint George University of Beirut, Beirut, Lebanon.
Introduction: Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene). The resulting condition is dictated by the severity of the involved mutation; for instance, Duchenne muscular dystrophy presents in early childhood with rapid progression, whereas Becker muscular dystrophy exhibits a milder, later onset with slower progression. In this report, we present the case of a young patient with clinical symptoms of a dystrophinopathy, whose genetic analysis yielded two previously undescribed mutations within the dystrophin gene.
View Article and Find Full Text PDFDysregulated ATX-LPA and YAP/TAZ signaling in dystrophic Sgcd mice with early fibrosis and inflammation.
Skelet Muscle
March 2025
Centro Científico y Tecnológico de Excelencia, Ciencia & Vida, 8580702, Santiago, Chile.
Background: Sarcoglycanopathies are muscle dystrophies caused by mutations in the genes encoding sarcoglycans (α, β, γ, and δ) that can destabilize the dystrophin-associated glycoprotein complex at the sarcolemma, leaving muscle fibers vulnerable to damage after contraction, followed by inflammatory and fibrotic responses and resulting in muscle weakness and atrophy. Two signaling pathways have been implicated in fibrosis and inflammation in various tissues: autotaxin/lysophosphatidic acid (ATX-LPA) and yes-associated protein 1/transcriptional co-activator with PDZ-binding motif (YAP/TAZ). LPA, synthesized by ATX, can act as a pleiotropic molecule due to its multiple receptors.
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