Multilayer cell clusters have been observed before confluence and before myotube formation in muscle cell cultures derived from open biopsies of 7 of 14 (50%) female carriers of Duchenne muscular dystrophy, and in a high percentage of other dystrophic cultures. By contrast, this abnormality was seen in only 12 of 204 (6%) muscle biopsies from patients with other neuromuscular disorders. It appears that cluster formation is independent of the amount of connective tissue present in vivo, because histopathological analysis of the carrier biopsies showed increased endomysial connective tissue in only two cases. These results suggest that cluster formation is an expression of a myogenic defect and that it may be a manifestation of the genetic abnormality in X-linked muscular dystrophy.
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http://dx.doi.org/10.1016/0014-4886(83)90036-5 | DOI Listing |
J Muscle Res Cell Motil
January 2025
Institute of Developmental and Regenerative Medicine, University of Oxford, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Dr, Headington, Oxford, OX3 7TY, UK.
Recent years have seen enormous progress in the field of advanced therapeutics for the progressive muscle wasting disease Duchenne muscular dystrophy (DMD). In particular, four antisense oligonucleotide (ASO) therapies targeting various DMD-causing mutations have achieved FDA approval, marking major milestones in the treatment of this disease. These compounds are designed to induce alternative splicing events that restore the translation reading frame of the dystrophin gene, leading to the generation of internally-deleted, but mostly functional, pseudodystrophin proteins with the potential to compensate for the genetic loss of dystrophin.
View Article and Find Full Text PDFNeuromuscul Disord
January 2025
Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel (UKBB), University of Basel, Basel, Switzerland. Electronic address:
Most patients with Duchenne muscular dystrophy (DMD) are non-ambulant. Preserving proximal motor function is crucial, rarely studied. Tamoxifen, a selective oestrogen receptor modulator, reduced signs of muscular pathology in a DMD mouse model.
View Article and Find Full Text PDFAsian Pac Isl Nurs J
January 2025
Nursing Care Research Center, Clinical Sciences Institute, Nursing Faculty, Baqiyatallah University of Medical Sciences, Vanak Square, Tehran, Iran, 98 9127297199.
Background: Neuromuscular disorders (NMDs) constitute a heterogeneous group of disorders that affect motor neurons, neuromuscular junctions, and muscle fibers, resulting in symptoms such as muscle weakness, fatigue, and reduced mobility. These conditions significantly affect patients' quality of life and impose a substantial burden on caregivers. Spinal muscular atrophy (SMA) is a relatively common NMD in children that presents in various types with varying degrees of severity.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Maxillofacial Surgery, Waikato Hospital, Hamilton, New Zealand.
A man in his late 50s was referred by a speech and language therapist for consideration of a palatal lift prosthesis (PLP) to improve his speech intelligibility. He presented with hypokinetic dysarthria characterised by reduced loudness, breathy voice and hypernasality. The patient had a diagnosis of progressive muscular dystrophy and mobilised in a motorised wheelchair.
View Article and Find Full Text PDFJCI Insight
January 2025
Institute of Muscle Biology and Cachexia, University of Houston College of Pharmacy, Houston, United States of America.
Skeletal muscle regeneration in adults is predominantly driven by satellite cells. Loss of satellite cell pool and function leads to skeletal muscle wasting in many conditions and disease states. Here, we demonstrate that the levels of fibroblast growth factor-inducible 14 (Fn14) were increased in satellite cells after muscle injury.
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