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Oleic Acid Levels in HSALR Mouse Model of Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is characterized by altered RNA processing, muscle wasting and metabolic dysregulation. In a previous in vitro study, we found reduced endogenous oleic acid (OA; 18:1n-9) in myogenic cells from DM1 patients, and short-term OA supplementation rescued key disease readouts. Here, we asked whether lipid pathways are perturbed in a DM1 in vivo background. We employed the widely used HSALR mouse model, which expresses human skeletal alpha-actin transcripts harbouring expanded CTG repeats and recapitulates key DM1 phenotypes. RNA-seq-derived functional enrichment across three independent HSALR datasets revealed a consistent enrichment of downregulated GO terms related to fatty-acid metabolism, suggesting impaired lipid handling. Guided by transcriptomic evidence of fatty-acid pathway downregulation, we quantified endogenous OA in HSALR mice …

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