Evidence map›Paper›PMID 35112146›Full record

ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2022

Screening and identification of novel candidate biomarkers of focal cortical dysplasia type II via bioinformatics analysis.

Jiang-Ya Wang, Yang Li, Yuan-Yuan Lv, Lian Jiang

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Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

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1 citing paper in PubMed, 1 synthesis or guideline pooled it.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Jiang-Ya WangDepartment of Pediatrics, Hebei Medical University, Shijiazhuang, China.
Yang LiDepartment of Pediatrics, The Fourth Hospital of Hebei Medical University, Chang'an district, Shijiazhuang, 050000, China.
Yuan-Yuan LvDepartment of Pediatrics, Baoding First Central Hospital, Baoding, China.
Lian JiangDepartment of Pediatrics, The Fourth Hospital of Hebei Medical University, Chang'an district, Shijiazhuang, 050000, China. hlkycdx899@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeFocal cortical dysplasia (FCD) is the most common developmental malformation that causes refractory epilepsy. FCD II is a common neuropathological finding in tissues resected therapeutically from patients with drug-resistant epilepsy. However, its molecular genetic etiology remains unclear. This study aimed to identify potential molecular markers of FCD II using bioinformatics analysis.

methodsWe downloaded two datasets for FCD II from the Gene Expression Omnibus data repository. Differentially expressed genes (DEGs) between FCD II and normal brain tissues were identified, and functional enrichment analysis was performed. A protein-protein interaction network was constructed, and hub genes were identified from the DEGs. The hub gene expression was validated using WB in vitro. IHC staining was performed to verify the feasibility of the target molecular markers identified in the bioinformatics analysis.

resultsOne hundred sixty-seven common DEGs were identified between the datasets. The GO and KEGG analyses showed that variations were prominently enriched in some functions associated with gene expression. Five hub genes (i.e., FANCI, FANCA, BRCA2, RAD18, and KEAP1) were identified. Western blotting confirmed that all hub gene expressions were higher in the FCD II tissue than in the normal brain tissue. IHC staining showed that the FANCI expression significantly increased in the FCD II tissue.

conclusionThere are DEGs between FCD II and normal brain tissues, which may be considered biomarkers for FCD II, along with FANCI. The DEGs and hub genes identified in the bioinformatics analysis could serve as candidate targets for diagnosing and treating FCD II.

Indexed as

EpilepsyMalformations of Cortical Development, Group IBiomarkers, TumorComputational BiologyDNA-Binding ProteinsGene Expression ProfilingHumansKelch-Like ECH-Associated Protein 1NF-E2-Related Factor 2Ubiquitin-Protein LigasesBiomarkers, TumorDNA-Binding ProteinsKelch-Like ECH-Associated Protein 1NF-E2-Related Factor 2RAD18 protein, humanUbiquitin-Protein LigasesBioinformatics analysisDifferentially expressed genesFocal cortical dysplasia type IIHub genes

Identifiers

PMID35112146
PMCPMC8809227

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.