Authors
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S Reich, María I Gaitán, Steven Jacobson, Bridgett J Billioux, Bryan Smith, Avindra Nath
Published in
Annals of clinical and translational neurology. Aug 13, 2026. Epub Aug 13, 2026.
Abstract
Susac syndrome (SS) is a rare CD8+ T cell-mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial-associated proteins as biomarkers in SS.
Serum from four cases with definite or probable SS and eight healthy controls was analyzed using data-independent acquisition mass spectrometry. Analyses were restricted to proteins with established endothelial cell surface or membrane association, and differential abundance was assessed using detection-based (Fisher's exact) and quantitative (probabilistic dropout analysis) modeling.
Six endothelial-associated proteins demonstrated differential abundance in SS (p < 0.05 on unadjusted analysis). Low-density lipoprotein receptor-related protein 1 was increased (log2 fold change = +2.19, p = 0.0059), whereas Nectin-2, Melanoma cell adhesion molecule, Fatty acid transport protein 4, P-selectin, and Interleukin-6 signal transducer were decreased (log2 fold change -1.38 to -1.89; all p < 0.05).
Our findings suggest circulating proteins on the endothelial cell surface or membrane as potential biomarkers for SS and support endothelial dysfunction as a central disease mechanism. This pilot study provides a rationale for validation in larger, longitudinal cohorts.
ClinicalTrials.gov, NCT00001248 and NCT02435810.
PMID:
42593056
Bibliographic data and abstract were imported from PubMed on 13 Aug 2026.
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