Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders - PubMed
3 days ago
- #Proteomics
- #Hypermobility spectrum disorders
- #Ehlers-Danlos syndrome
- Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD).
- hEDS and HSD are prevalent conditions characterized by symptomatic joint hypermobility with no current causal treatment available.
- Diagnosis of hEDS relies on 2017 clinical criteria, with those not meeting criteria classified as HSD.
- Targeted serum proteomic profiling quantified 458 proteins in hEDS (n=88), HSD (n=88), and healthy controls (n=176).
- 54 proteins were differentially expressed in hEDS and 49 in HSD compared to controls, with no significant differences between hEDS and HSD.
- Combined patient cohort analysis showed 69 differentially expressed proteins relative to controls, spanning inflammatory, cardiometabolic, neurological, organ damage, and developmental processes.
- Findings suggest shared molecular features across hEDS/HSD spectrum and identify candidate circulating proteins for further investigation.