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Over the past decades, the immune responses have been suspected of participating in the mechanisms for epilepsy. To assess the immune related pathway in temporal lobe epilepsy (TLE), we explored the altered immune pathways in TLE patients with and without hippocampal sclerosis (HS). We analyzed RNA-seq data from 3 TLE-HS and 3 TLE-nonHS patients, including identification of differentially expressed RNA, function pathway enrichment, the protein-protein interaction network and construction of ceRNA regulatory network. We illustrated the immune related landscape of molecules and pathways on human TLE-HS. Also, we identified several differential immune related genes like HSP90AA1 and SOD1 in TLE-HS patients. Further ceRNA regulatory network analysis found SOX2-OT connected to miR-671-5p and upregulated the target gene SPP1 in TLE-HS patients. Also, we identified both SOX2-OT and SPP1 were significantly upregulated in five different databases including TLE-HS patients and animal models. Our findings established the first immune related genes and possible regulatory pathways in TLE-HS patients and animal models, which provided a novel insight into disease pathogenesis in both patients and animal models. The immune related SOX2-OT/miR-671-5p/SPP1 axis may be the potential therapeutic target for TLE-HS.
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http://dx.doi.org/10.1038/s41598-024-63541-7 | DOI Listing |
Brain
August 2025
Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, H3A 2B4, Canada.
Extensive neuroimaging research in temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) has identified brain atrophy as a disease phenotype. While it is also related to a complex genetic architecture, the transition from genetic risk factors to brain vulnerabilities remains unclear. Using a population-based approach, we examined the associations between epilepsy-related polygenic risk for HS (PRS-HS) and brain structure in healthy developing children, assessed their relation to brain network architecture, and evaluated its correspondence with case-control findings in TLE-HS diagnosed patients relative to healthy individuals We used genome-wide genotyping and structural T1-weighted magnetic resonance imaging (MRI) of 3,826 neurotypical children from the Adolescent Brain Cognitive Development (ABCD) study.
View Article and Find Full Text PDFActa Epileptol
September 2024
Department of Neurology, West China Hospital of Sichuan University, No.37 Guoxue Alley, Wuhou District, Chengdu, 610041, Sichuan, China.
Background: Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is typically resistant to pharmacological interventions; however, achieving seizure freedom is possible through surgery. Our objective was to focus on the pregnancy and seizure outcomes during pregnancy of women with TLE-HS, and aim to identify predictors of seizure control.
Methods: The West China Registry of Pregnancy of Women with Epilepsy (WCPR_EPi) was a monocentric prospective cohort study of women with epilepsy (WWE).
Ageing Res Rev
June 2025
Department of Human Anatomy, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, Henan 450001, China. Electronic address:
Hippocampal sclerosis (HS) is a pathological condition characterized by significant loss of hippocampal neurons and gliosis. This condition represents the most common neuropathological change observed in patients with temporal lobe epilepsy (TLE) and is also found in aging individuals. TLE related to HS is the most prevalent type of drug-resistant epilepsy in adults, and its underlying mechanisms are not yet fully understood.
View Article and Find Full Text PDFSci Rep
March 2025
Brain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Focal cortical dysplasia (FCD) is a malformation of cortical development characterized by a heterogeneous group of lesions with high epileptogenic activity. Somatic mutations in the mTOR pathway are the primary cause of cortical malformations (MCDs). Activation of the WNT pathway inhibits GSK3, which is a key inhibitor of mTOR; consequently, WNT activation is associated with increased activation of the mTOR pathway.
View Article and Find Full Text PDFEpilepsia
May 2025
Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Objective: This study was undertaken to investigate the regional burden of enlarged perivascular spaces (EPVSs) in patients with temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) and explore its prognostic relevance.
Methods: In this retrospective observational study, EPVSs in the temporal lobe (T-EPVS), centrum semiovale (CS-EPVS), basal ganglia (BG-EPVS), midbrain, and hippocampus were visually rated in 68 treatment-naïve patients with TLE-HS. Regional EPVS burden was dichotomized into high and low degrees (cutoff: >10 for BG-EPVS/T-EPVS; >20 for CS-EPVS).