Non-invasive detection of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disease caused by mutations in the DMD gene, leading to a lack of dystrophin—a protein essential for stabilizing muscle cell membranes. The absence of dystrophin results in repeated muscle damage, degeneration and chronic inflammation. The canine model identified and characterized in 1988 remains the most widely used large-animal model for DMD research. However, studies of muscle inflammation have traditionally relied on invasive biopsies or necropsies, creating a need for minimally invasive approaches. A study in Disease Models & Mechanisms used a canine-specific Luminex assay—a multiplex immunoassay—to quantify 13 cytokines and chemokines inflammatory markers in frozen serum samples from normal and dystrophic dogs across various ages. Additionally, it evaluated the impact of sample storage (fresh vs. frozen) and type (serum vs. plasma) on cytokine measurements. From all the markers, only CCL2, a proinflammatory chemokine, showed consistent changes at all ages, with the most pronounced increase occurring between 3 and 9 months compared to healthy dogs. These results establish a foundation for using CCL2 as a robust non-invasive circulatory immune biomarker for monitoring DMD progression and assessing responses to experimental therapies.

Original reference: Pérez-López, D. O. et al. Dis. Model. & Mech. 18, dmm052137 (2025)