Update: Validation of extracellular vesicle-associated circulating biomarkers for FSHD in cross-sectional and longitudinal clinical studies

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 so far completed the EV isolations and proteomic analyses in both groups. Our initial analysis revealed abundance of proteins involved in innate immunity and inflammation and decrease of certain proteins in FSHD patients from both groups. We have also discovered that the reduced levels of these proteins in FSHD EVs became more pronounced with aging. Using the same samples, we are currently working on revealing the RNA content of plasma EVs. Our next step is to monitor the levels of the identified EV proteins and RNAs throughout disease progression in 20 patients participating in a longitudinal study.