Circulating MicroRNAs From Serum Small Extracellular Vesicles as Potential diagnostic Biomarkers in Pediatric Epilepsy and Drug-Resistant Epilepsy
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ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE193842 | GEO | 2022/01/20
REPOSITORIES: GEO
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Project description:Circulating MicroRNAs From Serum Small Extracellular Vesicles as Potential diagnostic Biomarkers in Pediatric Epilepsy and Drug-Resistant Epilepsy
| PRJNA798069 | ENA
Project description:This study was performed to test the hypothesis that systemic leukocyte gene expression has prognostic value differentiating low from high seizure frequency refractory temporal lobe epilepsy (TLE). A consecutive series of sixteen patients with refractory temporal lobe epilepsy was studied. Based on a median baseline seizure frequency of 2.0 seizures per month, low versus high seizure frequency was defined as < 2 seizures/month and > 2 seizures/month, respectively.
2022-11-15 | GSE217726 | GEO
Project description:The search for new biomarkers for neuroblastoma diagnosis is driven by the need for improved accuracy, early detection, and personalized treatment of this particular type of cancer. Neuroblastoma is a pediatric cancer that primarily affects young children, and its diagnosis can be challenging due to its diverse clinical presentation and variable outcomes. Small extracellular vesicles (sEVs) have gained attention as potential tumor biomarkers due to their unique characteristics and their ability to reflect the molecular profile of the parent tumor cells. sEVs released by tumor cells can carry a cargo of proteins, nucleic acids (such as DNA and RNA), and other molecules that reflect the molecular diversity of the tumor. By analyzing the content of sEVs, researchers can gain insights into the heterogeneity of the tumor and potentially identify specific biomarkers associated with tumor subtypes or disease progression. sEVs can be found in various body fluids, this accessibility makes sEVs a promising source for non-invasive or minimally invasive diagnostic and monitoring approaches. sEVs are protected by a lipid bilayer membrane, which shields their cargo from degradation by enzymes and other harsh conditions in the extracellular environment. This stability allows sEVs to circulate in body fluids for extended periods, making them suitable for biomarker analysis. Here, we performed mass spectrometry-based proteomic analysis of serum sEVs to identify and validate potential protein biomarkers for diagnosis of NB.
2024-01-13 | PXD048511 | Pride
Project description:Severe myoclonic epilepsy of infancy (SMEI), or Dravet syndrome (DS), is a catastrophic pediatric epilepsy with severe intellectual disability, impaired social development, and persistent drug-resistant seizures. One of its primary monogenic causes is a mutation in SCN1A (Nav1.1), a type I voltage-gated sodium channel. In mice, Nav1.1 mutation is associated with reduced sodium current, altered interneuron firing, cognitive deficits, autistic-like traits and seizures. Here we describe a larval zebrafish Nav1.1 mutant that recapitulates salient features of the human SCN1A mutation phenotype. Between three and seven days post-fertilization, Nav1.1 mutants exhibit spontaneous abnormal electrographic activity, hyperactivity and convulsive behaviors. Transcriptomic analysis of Nav1.1 mutants was remarkable for the relatively small fraction of genes that were differentially expressed (~2%) and the lack of compensatory changes in expression for other SCN subunits. Pharmacological studies confirmed an antiepileptic action for the ketogenic diet, benzodiazepine, valproate, potassium bromide and stiripentol in Nav1.1 mutants; acetazolamide, phenytoin, ethosuximide had no effect, carbamazepine and vigabatrin made seizures worse. Using this mutant, we screened a chemical library of 320 compounds and identified four compounds that reduced spontaneous seizure-like behavior and one compound (clemizole) that inhibited convulsive behavior and electrographic seizures. Drug-resistant scn1a zebrafish mutants described here represent a new direction in modeling pediatric epilepsy and could be used to identify novel lead compounds for DS patients 4 Control sibling samples (sample= 10 pooled larvae) and 4 Nav1.1 mutants (sample= 10 pooled larvae) were collected at 6 dpf (days post fertilization). The Nav1.1 mutants were selected based on phenotype (dark color).
2014-01-04 | E-GEOD-43312 | biostudies-arrayexpress
Project description:Epilepsy frequently develops as a result of brain insult, for example brain injury or stroke. Currently there are no tools allowing us to predict which trauma patients will eventually develop epilepsy. There is evidence that microRNAs levels are altered in plasma, making them attractive candidates for peripheral biomarkers of epilepsy. We analyzed miRNA levels in plasma samples using Affymetrix microarrays 4.1 and performed comparative analysis of samples. We performed 3 comparisons: i) control animals vs. Status epilepticus animals, ii) animals which developed first spontaneous seizure around 7 days post stimulation (EARLY), or later after 21days post stimulation (LATE), iii) animals that had developed seizures at given timepoint (EPI) and animals that did not experience seizures by given timepoint (NONEPI).
2023-12-10 | GSE241756 | GEO
Project description:Purpose Identification of potential biomarkers of seizures. Methods In this exploratory study, we quantified plasma protein intensities in 15 patients with recent seizures compared to 15 patients with long-standing seizure freedom. Using TMT-based proteomics we found fifty-one differentially expressed proteins. Results Network analyses including co-expression networks and protein-protein interaction networks, using the STRING database, followed by network centrality and modularity analyses revealed 22 protein modules, with one module showing a significant association with seizures. The protein-protein interaction network centered around this module identified a subnetwork of 125 proteins, grouped into four clusters. Notably, one cluster (mainly enriching inflammatory pathways and Gene Ontology terms) demonstrated the highest enrichment of known epilepsy-related genes. Conclusion Overall, our network-based approach identified a protein module linked with seizures. The module contained known markers of epilepsy and inflammation. The results also demonstrate the potential of network analysis in discovering new biomarkers for improved epilepsy management.
2024-11-19 | PXD057292 | Pride
Project description:Epilepsy frequently develops as a result of brain insult, for example brain injury or stroke. Currently there are no tools allowing us to predict which trauma patients will eventually develop epilepsy. There is evidence that microRNAs levels are altered in the blood, making them attractive candidates for peripheral biomarkers of epilepsy. We analyzed miRNA levels in blood samples using Affymetrix microarrays 4.1 and performed comparative analysis of samples. We performed 3 comparisons: i) control animals vs. Status epilepticus animals, ii) animals which developed first spontaneous seizure around 7 days post stimulation (EARLY), or later after 21days post stimulation (LATE), iii) animals that had high or low number of seizures as determined by seizures number (EARLY vs. LATE).
2024-06-14 | GSE234941 | GEO
Project description:Epilepsy frequently develops as a result of brain insult, for example brain injury or stroke. Currently there are no tools allowing us to predict which trauma patients will eventually develop epilepsy. There is evidence that microRNAs levels are altered in the blood, making them attractive candidates for peripheral biomarkers of epilepsy. We analyzed miRNA levels in blood samples using Affymetrix microarrays 4.1 and performed comparative analysis of samples. We performed 3 comparisons: i) control animals vs. Status epilepticus animals, ii) animals which developed first spontaneous seizure around 7 days post stimulation (EARLY), or later after 21days post stimulation (LATE), iii) animals that had high or low number of seizures as determined by seizures number (EARLY vs. LATE).
2024-06-14 | GSE234940 | GEO
Project description:Epilepsy frequently develops as a result of brain insult, for example brain injury or stroke. Currently there are no tools allowing us to predict which trauma patients will eventually develop epilepsy. There is evidence that microRNAs levels are altered in the blood, making them attractive candidates for peripheral biomarkers of epilepsy. We analyzed miRNA levels in blood samples using Affymetrix microarrays 4.1 and performed comparative analysis of samples. We performed 3 comparisons: i) control animals vs. Status epilepticus animals, ii) animals which developed first spontaneous seizure around 7 days post stimulation (EARLY), or later after 21days post stimulation (LATE), iii) animals that had high or low number of seizures as determined by seizures number (EARLY vs. LATE).
2024-06-14 | GSE234937 | GEO
Project description:Severe myoclonic epilepsy of infancy (SMEI), or Dravet syndrome (DS), is a catastrophic pediatric epilepsy with severe intellectual disability, impaired social development, and persistent drug-resistant seizures. One of its primary monogenic causes is a mutation in SCN1A (Nav1.1), a type I voltage-gated sodium channel. In mice, Nav1.1 mutation is associated with reduced sodium current, altered interneuron firing, cognitive deficits, autistic-like traits and seizures. Here we describe a larval zebrafish Nav1.1 mutant that recapitulates salient features of the human SCN1A mutation phenotype. Between three and seven days post-fertilization, Nav1.1 mutants exhibit spontaneous abnormal electrographic activity, hyperactivity and convulsive behaviors. Transcriptomic analysis of Nav1.1 mutants was remarkable for the relatively small fraction of genes that were differentially expressed (~2%) and the lack of compensatory changes in expression for other SCN subunits. Pharmacological studies confirmed an antiepileptic action for the ketogenic diet, benzodiazepine, valproate, potassium bromide and stiripentol in Nav1.1 mutants; acetazolamide, phenytoin, ethosuximide had no effect, carbamazepine and vigabatrin made seizures worse. Using this mutant, we screened a chemical library of 320 compounds and identified four compounds that reduced spontaneous seizure-like behavior and one compound (clemizole) that inhibited convulsive behavior and electrographic seizures. Drug-resistant scn1a zebrafish mutants described here represent a new direction in modeling pediatric epilepsy and could be used to identify novel lead compounds for DS patients
2014-01-04 | GSE43312 | GEO