Exploring Infantile Epileptic Spasm Syndrome: A Proteomic Analysis of Plasma Using the Data-Independent Acquisition Approach

This study aimed to identify characteristic proteins
in infantile
epileptic spasm syndrome (IESS) patients’ plasma, offering
insights into potential early diagnostic biomarkers and its underlying
causes. Plasma samples were gathered from 60 patients with IESS and
40 healthy controls. Data-independent acquisition proteomic analysis
was utilized to identify differentially expressed proteins (DEPs).
These DEPs underwent functional annotation through Gene Ontology (GO)
and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment
analyses. Gene set enrichment analysis (GSEA) was employed for both
GO (GSEA-GO) and KEGG (GSEA-KEGG) analyses to examine the gene expression
profiles. Receiver operating characteristic (ROC) curves assessed
biomarkers’ discriminatory capacity. A total of 124 DEPs were
identified in IESS patients’ plasma, mainly linked to pathways,
encompassing chemokines, cytokines, and oxidative detoxification.
GSEA-GO and GSEA-KEGG analyses indicated significant enrichment of
genes associated with cell migration, focal adhesion, and phagosome
pathways. ROC curve analysis demonstrated that the combination of
PRSS1 and ACTB, PRSS3, ACTB, and PRSS1 alone exhibited AUC values
exceeding 0.7. This study elucidated the significant contribution
of cytokines, chemokines, oxidative detoxification, and phagosomes
to the IESS pathogenesis. The combination of PRSS1 and ACTB holds
promise as biomarkers for the early diagnosis of IESS.