PROFOUND CELLULAR DEFECTS ATTRIBUTE TO MUSCULAR PATHOGENESIS IN DMD RHESUS MONKEY MODEL

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Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disease caused by mutations in the DMD gene. Muscle fibers rely on the coordination of multiple cell types for repair and regenerative capacity. To elucidate the cellular and molecular changes in these cell types under pathologic conditions, we generated a rhesus monkey model for DMD that displays progressive muscle deterioration and impaired motor function, mirroring human conditions. By leveraging our newly developed DMD monkeys, we analyzed freshly isolated muscle tissues using scRNA-seq. Our analysis revealed changes in immune cell landscape, reversion of lineage progressing directions in fibrotic fibro-adipogenic progenitors (FAPs), and TGF-β resistance in FAPs and muscle stem cells (MuSCs). Furthermore, muscle stem cells displayed cell-intrinsic defects, leading to differentiation deficiencies. These findings provide new insights into the pathogenesis of DMD.

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