Rewiring signalling to find therapy for SEPN1-related myopathy
Selenoprotein-related myopathy (SEPN1-RM) is a rare untreatable congenital myopathy in which SEPN1 mutations impair the antioxidant system and mitochondrial oxidative function, leading to a significant loss of bioenergetic production and muscle cell functions, potentially lethal respiratory failure and mobility impairment. The EU-funded REBOOST project aims to use patient-derived cells to establish high-throughput readouts of metabolism, facilitating drug repurposing for SEPN1-RM, and employ original treatment strategies exploiting signallings bypassing SEPN1 defects to restore cellular bioenergetics. This study will facilitate the establishment of SEPN1-RM biomarkers and novel therapeutic studies, and provide a model approach for the analysis and treatment of other inherited or acquired myopathies sharing an underlying bioenergetic deficiency, including sarcopenia and cancer cachexia.
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