Non-Invasive Ventilation for Acute Respiratory Failure in Duchenne Muscular Dystrophy Patients

Vianello, Andrea; Arcaro, Giovanna; Guarnieri, Gabriella; Sukthi, Andi; Molena, Béatrice; Turato, Cristian; Braccioni, Fausto; Gallan, Federico; Lugato, Francesca; Turrin, Martina; Bello, Luca; Navalesi, Paolo

doi:10.1016/j.arbres.2021.01.015

Cited by 1 publication

(1 citation statement)

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“…Initial clinical signs include developmental delays in Duchenne patients with proximal muscle weakness, temporal and spatial gait variations, decreased walking speed, and Gower's sign [182][183][184]. Characteristic patterns of toe walking and difficulties with climbing stairs progress at more advanced stages of the disease towards respiratory insufficiency, cardiomyopathy, scoliosis, and severe limitations in general mobility [185][186][187][188][189][190], which eventually results in the loss of unassisted ambulation and upper body weakness [191]. Approximately one-fifth of Duchenne patients suffer from intellectual developmental disorder that can be associated with learning difficulties, behavioral deficits, emotional problems, attention deficits, impaired language and speech development, cognitive deficiencies, and mental retardation [192][193][194].…”

Section: Duchenne Muscular Dystrophy and Fibrosismentioning

confidence: 99%

Extracellular Matrix Proteomics: The mdx-4cv Mouse Diaphragm as a Surrogate for Studying Myofibrosis in Dystrophinopathy

et al. 2023

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The progressive degeneration of the skeletal musculature in Duchenne muscular dystrophy is accompanied by reactive myofibrosis, fat substitution, and chronic inflammation. Fibrotic changes and reduced tissue elasticity correlate with the loss in motor function in this X-chromosomal disorder. Thus, although dystrophinopathies are due to primary abnormalities in the DMD gene causing the almost-complete absence of the cytoskeletal Dp427-M isoform of dystrophin in voluntary muscles, the excessive accumulation of extracellular matrix proteins presents a key histopathological hallmark of muscular dystrophy. Animal model research has been instrumental in the characterization of dystrophic muscles and has contributed to a better understanding of the complex pathogenesis of dystrophinopathies, the discovery of new disease biomarkers, and the testing of novel therapeutic strategies. In this article, we review how mass-spectrometry-based proteomics can be used to study changes in key components of the endomysium, perimysium, and epimysium, such as collagens, proteoglycans, matricellular proteins, and adhesion receptors. The mdx-4cv mouse diaphragm displays severe myofibrosis, making it an ideal model system for large-scale surveys of systematic alterations in the matrisome of dystrophic fibers. Novel biomarkers of myofibrosis can now be tested for their appropriateness in the preclinical and clinical setting as diagnostic, pharmacodynamic, prognostic, and/or therapeutic monitoring indicators.

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