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• W3201311678 abstract "Abstract Background: Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low levels of dysferlin, a type-II transmembrane protein and the causative gene of these dystrophies. Dysferlin is implicated in vesicle fusion, trafficking, and membrane repair. Muscle biopsy from patients with dysferlinopathy is characterized by the presence of inflammatory infiltrates. Studies in the muscle of human and mouse models of dysferlinopathy suggest dysferlin-deficient muscle plays a role in this inflammation by releasing thrombospondin-1. It has also been reported that vitamin D3 treatment enhances dysferlin expression. The ubiquitin-proteasome system recognizes and removes proteins that fail to fold or assemble properly and previous studies suggest that its inhibition could have a therapeutic effect in muscle dystrophies. Here we assessed whether inhibition of the ubiquitin proteasome system prevented degradation of dysferlin in immortalized myoblasts from a patient with two missense mutations in exon 44. Methods: To assess proteasome inhibition we treated dysferlin deficient myotubes with oprozomib, ixazomib, and EB1089, a vitamin D3 analogue. Western blot was performed to analyze the effect of these treatments on the recovery of dysferlin and myogenin expression. TSP-1 was quantified using the enzyme-linked immunosorbent assay to analyze the effect of these drugs on its release. A membrane repair assay was designed to assess the ability of treated myotubes to recover after membrane injury. We also calculated the fusion index in response to the different treatments. Data were analysed using a one-way ANOVA test followed by Tukey post hoc test and analysis of variance. A p≤0.05 was considered statistically significant. Results: Treatment with proteasome inhibitors and EB1089 resulted in a trend towards an increase in dysferlin and myogenin expression. Furthermore, EB1089 and proteasome inhibitors reduced the release of TSP-1 in myotubes. However, no effect was observed on muscle membrane repair after injury. Conclusions: Our findings indicate that the ubiquitin-proteasome system might not be the main mechanism of mutant dysferlin degradation. However, its inhibition could help to improve muscle inflammation by reducing TSP-1 release." @default.
• W3201311678 created "2021-09-27" @default.
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• W3201311678 date "2020-07-23" @default.
• W3201311678 modified "2023-09-24" @default.
• W3201311678 title "Proteasome Inhibitors Reduce Thrombospondin-1 Release in Human Dysferlin-Deficient Myotubes" @default.
• W3201311678 doi "https://doi.org/10.21203/rs.2.19199/v2" @default.
• W3201311678 hasPublicationYear "2020" @default.
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