Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA264475 | ENA |
REPOSITORIES: ENA
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Project description:Optic neuritis (ON) is a common manifestation of multiple sclerosis (MS); it appears as the presenting symptom in about 25% of MS patients and occurs in 30–70% of patients with MS during the course of their illness Purpose. To evaluate the molecular pathways that operate in the early phase of acute ON by studying gene expression profiles of peripheral blood mononuclear cells (PBMCs) subpopulations including CD19+ B cells, CD14+ macrophages, CD4+ and CD8+ T cells. High throughput gene expression analysis was performed on periferal mononuclear blood cells (PBMC) samples from 6 patients within 96 hours of the acute onset of the first demyelinating event of optic neuritis and 9 age matched healthy subjects using Affymetrix Inc. technology
2014-10-22 | E-GEOD-62584 | biostudies-arrayexpress
Project description:The aim of this study was to examine retinal transcriptomic changes associated with optic neuritis and identify those that are reversed upon targeted expression of SIRT1 in RGCs. Conceptually, identification of transcriptional differences between SIRT1-treated and non-treated retinas will help identify genes correlating with resilience and resistance to neurodegeneration and/or the molecular pathways affected by SIRT1 overexpression. To achieve this, we used a mouse model of experimental autoimmune encephalomyelitis (EAE)-induced optic neuritis, a commonly used model of multiple sclerosis, in which myelin oligodendrocyte-specific immune responses are induced by injecting myelin oligodendrocyte glycoprotein peptide (MOG35-55) . EAE mice develop an autoimmune demyelinating reaction characteristic of multiple sclerosis and optic neuritis which include optic nerve inflammation, axon demyelination, and loss of RGCs and visual acuity.Using this disease model and bulk RNA sequencing, we identified genes whose expression is affected by constitutive ubiquitous SIRT1 expression in SIRT1 knock-in mice, and in wild-type mice upon either targeted adeno-associated virus (AAV)-mediated SIRT1 expression in RGCs or oral gavage with resverotrol (RSV), a SIRT1 activator.
2025-03-31 | GSE275359 | GEO
Project description:To compare the different immunological mechanisms between aquaporin 4 antibody-associated optic neuritis (AQP4-ON) and myelin oligodendrocyte glycoprotein antibody-associated optic neuritis (MOG-ON) based on RNA sequencing (RNA-seq) of whole blood.
2023-03-07 | GSE226808 | GEO
Project description:Optic neuritis (ON) is a common manifestation of multiple sclerosis (MS); it appears as the presenting symptom in about 25% of MS patients and occurs in 30–70% of patients with MS during the course of their illness Purpose. To evaluate the molecular pathways that operate in the early phase of acute ON by studying gene expression profiles of peripheral blood mononuclear cells (PBMCs) subpopulations including CD19+ B cells, CD14+ macrophages, CD4+ and CD8+ T cells.
2014-10-22 | GSE62584 | GEO
Project description:The STAyCIS trial is a randomized, double-blind, placebo-controlled, multicentre study evaluating the efficacy and safety of atorvastatin (Lipitor, Pfizer, 80mg/day) in patients with clinically isolated syndrome (a first demyelinating event) and at high risk of conversion to relapsing, remitting multiple sclerosis (RRMS). Samples were obtained from subjects in the STAyCIS study (NCT00094172) within a screening phase of 90 days from the index CIS event and followed up for 18 months (12 months treatment phase) with serial clinical and radiological (MRI imaging) review. The primary combined endpoint was the development of either radiological (>=3 new T2 MRI lesions) or clinical relapse (>=1 clinical exacerbation) during the 12 month treatment phase. Frozen, viable PBMC were stored before thawing and extraction of CD8+ cells by positive magnetic bead selection. RNA extracted from viable, purified CD8+ cells was labelled and hybridized to Affymetrix HuGene-1_0-st-v1 arrays.
2020-10-22 | E-MTAB-9637 | biostudies-arrayexpress
Project description:Guillain-Barré syndrome (GBS) is characterized by acute immune-mediated peripheral neuropathy, which may result in rapidly progressive paralysis and fatal respiratory failure. As the underlying pathological mechanisms of GBS are unclear, we surveyed the transcriptome of rats with experimental autoimmune neuritis (EAN), a model of GBS. Briefly, sciatic nerves on both sides were collected from 8–10-week-old Lewis rats during early (10 days post-induction), peak (19 days), and late neuritis (30 days). Total RNA was sequenced to identify differentially expressed genes. Compared to control rats without induced neuritis, 33 genes were differentially expressed in the early phase (14 upregulated and 19 downregulated), with an adjusted P-value < 0.05 and |log2 fold-change| > 1, as were 137 genes in the peak phase (126 upregulated and 11 downregulated) and 60 genes in the late phase (58 upregulated and 2 downregulated). Eleven of these genes were common to all stages, suggesting their crucial roles throughout the disease course. Analysis of protein-protein interactions revealed Fos, Ccl2, Itgax and C3 as node genes at different stages. Functional analysis of differentially expressed genes identified biological processes and pathways that are activated as neuritis progresses. This is the first genome-wide gene expression study of peripheral nerves in experimental autoimmune neuritis model. Dynamic gene expression and significantly altered biological functions were detected in different phases of the disease, increasing our understanding of the molecular mechanisms underlying EAN and highlighting potential targets for its diagnosis and treatment.
2020-01-22 | GSE133750 | GEO
Project description:To characterize adenosine-to-inosine (A-to-I) RNA editing in myelin oligodendrocyte glycoprotein antibody-positive optic neuritis (MOG-ON), explore phase-based immune response differences, and screen therapeutic targets and visual prognosis factors, we collected 14 peripheral blood samples from patients with MOG-ON (9 acute, 5 remission) and 7 healthy volunteers, screened differentially edited sites and genes, conducted functional enrichment, compared stage-wise gene and immune pathway profiles, and quantified immune cell subsets via CIBERSORTx; MOG-ON patients exhibited widespread editome remodeling with 240 differential edited sites and 135 genes enriched in neutrophil immunity and T-cell differentiation, with ITGAX and C5AR1 as core regulators; acute-phase pathways centered on immunoglobulin and B cell receptor signaling, while cell cycle pathways prevailed in remission; Toll-like receptor and MAPK pathways mediate inflammatory myelin damage, and cytochrome P450, pyrimidine and collagen metabolism support anti-inflammatory neural repair; UBB and CD74 were acute hub genes, CDK1 the remission hub gene; CD74 correlated positively with neutrophils and negatively with monocytes, and CDK1 correlated positively with M0 macrophages and memory B cells; acute BCVA correlated with regulatory T cells and memory B cells, while remission BCVA correlated with monocytes and resting CD4+ memory T cells; our findings confirm abnormal A-to-I editing modulates immune-inflammatory networks to drive MOG-ON pathogenesis and identify stage-specific immune signatures, providing new evidence for precise diagnosis and targeted therapy of MOG-associated optic neuritis.
2026-09-23 | GSE339140 | GEO
Project description:Clinically Isolated Syndromes (CIS)represent the first clinical episode of an inflammatory demyelinating disorder suggestive of MS. Most CIS will develop relapsing-remitting MS (RR), characterized by clinical and inflammatory attacks followed by periods of recovery and stability. With time, most RR-MS subjects will evolve to secondary progressive MS (SP), with advancing neurological impairment in absence of recognizable relapses. A small fraction of MS subjects experience worsening of neurologic function from the onset and are thus defined primary progressive MS (PP). We analysed PBMC transcriptomes relative to 41 healthy subjects, 47 CIS, 49 RR, 22 SP and 27 PP patients and applied a semi-automated pipeline in R Bioconductor platform to perform preprocessing and differential expression analysis.
2023-01-31 | E-MTAB-11415 | biostudies-arrayexpress
Project description:The optic nerve is a white matter tract that conveys visual information to the brain. A detailed investigation of the proteome of the normal human retrobulbar optic nerve may help facilitate studies of the biology and pathophysiology of the optic nerve. We conducted an in-depth proteomic analysis of optic nerve from five adults. Proteins were fractionated using SDS-PAGE. After in-gel digestion, peptides were analyzed using LC-MS/MS on an Orbitrap Elite mass spectrometer. We identified 2,711 non-redundant proteins in the human retrobulbar optic nerve, including the astrocytic marker glial fibrillary acidic protein, several proteins expressed by oligodendrocytes (laminin, proteolipid protein, and fibronectin), myelin proteins (myelin basic protein, myelin-associated glycoprotein), paranodal structural proteins (neurofascin, contactin, α, β, and γ adducins, septin 2, endophilin, ankyrin β, spectrin), proteins involved in neuronal protection and regeneration (α crytallins A and B, dedicator of cytokinesis proteins, ciliary neurotrophic factor), proteins associated with open-angle glaucoma (thioredoxin, heat shock protein-70), and proteins associated with optic neuritis (aquaporin-4). Twenty-one unambiguous protein isoforms were identified in the optic nerve.
2016-08-24 | PXD001581 | Pride
Project description:This study reports the first characterization of the intracellular proteome of peripheral blood mononuclear cells (PBMC) isolated from subjects diagnosed with primary open angle glaucoma (POAG)by shot-gun proteomics. Glaucoma is a chronic optic neuropathy and among the first causes of irreversible blindness on a global scale. Several recent data have pointed out alterations of immune system processes in glaucoma subjects. Very recently, oxygen consumption rate (OCR) and NAD levels have been proposed as biomarkers of disease severity.
2025-09-22 | PXD059976 | Pride