Posted by Friends of FSH Research on Nov 23, 2025
Update by Dr. Bayazit
See also Validation of extracellular vesicle-associated circulating biomarkers for FSHD in cross-sectional and longitudinal clinical studies
Finding reliable blood biomarkers that correlate with muscle damage without relying on muscle biopsies is an unmet need in Facioscapulohumeral Dystrophy (FSHD). In this project, we set out to discover the content (protein and RNA) of plasma Extracellular vesicles (EVs) in two independent groups of FSHD patients and healthy controls. EVs are nano-sized particles that are released by almost every cell in the body. Some of these particles make their way into the bloodstream. Circulating EVs carry protein and/or RNA cargo that can often correlate with disease severity. Hence, EVs are emerging as a valuable source for identifying minimally invasive biomarkers in various diseases. We have completed the EV isolations and proteomic and transcriptomic (RNA) analyses in both groups. Our analysis revealed abundance of an extracellular matrix protein involved in tissue repair (Lumican) and innate immunity (Complement C7) in FSHD patients. We have also discovered Lumican levels correlate with certain disease outcome measures. Furthermore, we have identified three EV-associated microRNAs upregulated in FSHD patients. Our next step is to monitor the levels of the identified EV proteins and RNAs throughout disease progression in participating in a longitudinal study.
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