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Genome-Wide Expression Profile in People with Optic Neuritis Associated with Multiple Sclerosis

Habek, Mario; Blazekovic, Antonela; Gotovac Jercic, Kristina; Pivac, Nela; Outero, Tiago Fleming; Borovecki, Fran; Brinar, Vesna (2023) Genome-Wide Expression Profile in People with Optic Neuritis Associated with Multiple Sclerosis. Biomedicines, 11 (8). ISSN 2227-9059

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Abstract

The aim of this study was to perform a genome-wide expression analysis of whole-blood samples from people with optic neuritis (ON) and to determine differentially expressed mRNAs compared to healthy control subjects. The study included eight people with acute ON and six healthy control subjects. Gene expression was analyzed using DNA microarrays for whole-human-genome analysis, which contain 54,675 25-base pairs. The additional biostatistical analysis included gene ontology analysis and gene set enrichment analysis (GSEA). Quantitative RT-PCR (qPCR) was used to confirm selected differentially expressed genes. In total, 722 differently expressed genes were identified, with 377 exhibiting increased, and 345 decreased, expression. Gene ontology analysis and GSEA revealed that protein phosphorylation and intracellular compartment, apoptosis inhibition, pathways involved in cell cycles, T and B cell functions, and anti-inflammatory central nervous system (CNS) pathways are implicated in ON pathology. qPCR confirmed the differential expression of eight selected genes, with SLPI, CR3, and ITGA4 exhibiting statistically significant results. In conclusion, whole-blood gene expression analysis showed significant differences in the expression profiles of people with ON compared to healthy control subjects. Additionally, pathways involved in T cell regulation and anti-inflammatory pathways within CNS were identified as important in the early phases of MS.

Item Type: Article
Uncontrolled Keywords: optic neuritis; multiple sclerosis; genome-wide expression analysis
Subjects: NATURAL SCIENCES > Biology > Biochemistry and Molecular Biology
BIOMEDICINE AND HEALTHCARE > Clinical Medical Sciences
Divisions: Division of Molecular Medicine
Projects:
Project titleProject leaderProject codeProject type
Molekularne i biološke osnove demijelinizacijskih bolesti živčanog sustavaUNSPECIFIED108-1081874-1988MZOM
Depositing User: Josipa Karadžole
Date Deposited: 30 Apr 2026 10:41
URI: https://fulir.irb.hr:/id/eprint/11850
DOI: 10.3390/biomedicines11082209

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