Increased expression of DOC2A in human and rat temporal lobe epilepsy

Hu, Xiao; Tang, Jun; Lan, Xiaofang; Mi, Xiujuan

doi:10.1016/j.eplepsyres.2019.02.008

Cited by 9 publications

(7 citation statements)

References 23 publications

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“…Recent studies have proposed that the DNAJC6 [467], DNAJB2 [468], GPR4 [469] and ZFPM2 [80] are associated with Parkinson Disease. Vauthier et al [434], Cushion et al [470], Barone et al [471], Marcoli et al [472], Qin et al [473], de Nijs et al [474], Bergareche et al [475], Hu et al [476], Liu et al [477], Zhang et al [478], Gorman et al [479], Cherian et al [480], Gururaj et al [481], Belhedi et al [482] and Park et al [483] demonstrated that DNAJC6, TUBB2A, DPM2, SMOX (spermine oxidase), CDYL (chromodomain Y like), EFHC1, SCN4A, DOC2A, ADGRV1, SCAMP5, CACNA1B, KCNT1, KCNT2, CPA6 and CYP3A5 could induce epilepsy. These enriched genes might play essential roles in the advancement of BD and act as novel diagnosis biomarkers or treatment targets of BD.…”

Section: Discussionmentioning

confidence: 99%

Identification of Key Genes and Biological Pathways in Bipolar Disorder by Bioinformatics and Next Generation Sequencing Data Analysis

Vastrad¹,

Vastrad²

2022

Preprint

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Bipolar disorder (BD), also known as psychiatric disorder, affects millions of people all over the world. The aim of this investigation was to screen and verify hub genes involved in BD as well as to explore potential molecular mechanisms. The next generation sequencing (NGS) dataset GSE124326 was downloaded from the Gene Expression Omnibus (GEO) database, which contained 480 samples, including 240 BD and 240 normal controls. Differentially expressed genes (DEGs) were filtered and subjected to gene ontology (GO) and pathway enrichment analyses. A protein–protein interaction (PPI) network and module analysis were used to identify hub genes. The miRNA-hub gene regulatory network and TF-hub gene regulatory network were also constructed. Receiver operating characteristic curve (ROC) analysis was used to validate hub genes. In this work, 957 DEGs, including 477 up regulated and 480 down regulated, were obtained from NGS data. The GO and pathway enrichment analyses of the DEGs showed that the up regulated genes were enriched in the neutrophil degranulation, immune system, transport, cytoplasm and enzyme regulator activity, and the down regulated genes were enriched in extracellular matrix organization, diseases of metabolism, multicellular organismal process, cell periphery and metal ion binding. Finally, through analyzing the PPI network, miRNA-hub gene regulatory network and TF-hub gene regulatory network, we screened hub genes UBB, UBE2D1, TUBA1A, RPL11, RPS24, NOTCH3, CAV1, CNBD2, CCNA1 and MYH11 by the Cytoscape software. The current investigation illustrates a characteristic NGS data in BD, which might contribute to the interpretation of the progression of BD and provide novel biomarkers and therapeutic targets for BD.

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Section: Discussionmentioning

confidence: 99%

Identification of Key Genes and Biological Pathways in Bipolar Disorder by Bioinformatics and Next Generation Sequencing Data Analysis

Vastrad¹,

Vastrad²

2022

Preprint

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“…DOC2A can regulate spontaneous synaptic transmission and has been implicated in Ca 2+ -dependent neurotransmitter release. The abnormal protein expression of DOC2A in epileptic brain tissue may play an important role in epilepsy [24].…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray

Yao

Law

et al. 2021

Diagnostics

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This study examined the molecular characterization of a prenatal case with true fetal mosaicism of small supernumerary marker chromosome 16 (sSMC(16)). A 41-year-old female underwent amniocentesis at 19 weeks of gestation due to advanced maternal age. Chromosomal analysis for cultured amniocytes revealed a karyotype of 47,XY,+mar[4]/46,XY[16]. Spectral karyotyping and metaphase fluorescence in situ hybridization (FISH) demonstrated that the sSMC was derived from chromosome 16 (47,XY,+mar.ish der(16)(D16Z1+)[13/20]). Confined placental mosaicism was initially suspected because the prenatal ultrasound revealed a normal structure and the pregnancy was uneventful. However, interphase FISH of cord blood performed at 28 weeks of gestation showed 20% mosaicism of trisomy chromosome 16 (nuc ish(D16Z2×3)[40/200]). Chromosome microarray analysis further demonstrated 55% mosaicism of an 8.02 Mb segmental duplication at the subcentromeric region of 16p12.1p11.1 (arr[GRCh37] 16p12.1p11.1(27021975_35045499)×3[0.55]). The results demonstrated a true fetal mosaicism of sSMC(16) involving chromosome16p12.1p11.1 that is associated with chromosome 16p11.2 duplication syndrome (OMIM #614671). After non-directive genetic counseling, the couple opted for late termination of pregnancy. This case illustrated the use of multiple molecular cytogenetic tools to elucidate the origin and structure of sSMC, which is crucial for prenatal counseling, decision making, and clinical management.

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“…The expression reached its lowest level during the chronic phase, suggesting that Robo3 may be involved in temporal lobe epilepsy. 16 Based on the above study, since the role of Robo1 in epilepsy has not been investigated or fully illustrated, we used a variety of experimental methods and observed alterations in epileptic behavior in various groups of mice to explore the impact of activation of the Robo1 on dendritic spine morphology and density. Eventually, a new target and theoretical background are provided for the diagnosis and treatment of epilepsy.…”

Section: Introductionmentioning

confidence: 99%

“…In a lithium‐pyrrolizidinium chloride‐induced rat model of epilepsy, Robo3 expression in the hippocampus is found to decrease over time during acute and chronic epilepsy in epileptic rats. The expression reached its lowest level during the chronic phase, suggesting that Robo3 may be involved in temporal lobe epilepsy 16 …”

Section: Introductionmentioning

confidence: 99%

Mechanism of Robo1 in the pentylenetetrazol‐kindled epilepsy mouse model

Liu,

Huang,

Zhu

et al. 2023

Ibrain

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The neural network hypothesis is one of the important pathogenesis of drug‐resistant epilepsy. Axons guide molecules through synaptic remodeling and brain tissue remodeling, which may result in the formation of abnormal neural networks. Therefore, axon guidance plays a crucial role in disease progression. However, although Robo1 is one of the important components of axon guidance, the role of Robo1 in epilepsy remains unclear. In this study, we aimed to explore the mechanism of Robo1 in epilepsy. Male adult C57BL/6 mice were intraperitoneally injected with pentatetrazole to establish an epilepsy model. Lentivirus (LV) was given via intracranial injection 2 weeks before pentatetrazol injection. Different expressions of Robo1 between the control group, LV‐mediated Robo1 short hairpin RNA group, empty vector control LV group, and normal saline group were analyzed using Western blot, immunofluorescence staining, Golgi staining, and video monitoring. Robo1 was increased in the hippocampus in the pentylenetetrazol‐induced epilepsy mouse model; lentiviral Robo1 knockdown prolonged the latency of seizure and reduced the seizure grade in mice and resulted in a decrease in dendritic spine density, while the number of mature dendritic spines was maintained. We speculate that Robo1 has been implicated in the development and progression of epilepsy through its effects on dendritic spine morphology and density. Epileptic mice with Robo1 knockdown virus intervention had lower seizure grade and longer latency. Follow‐up findings suggest that Robo1 may modulate seizures by affecting dendritic spine density and morphology. Downregulation of Robo1 may negatively regulate epileptogenesis by decreasing the density of dendritic spines and maintaining a greater number of mature dendritic spines.

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Increased expression of DOC2A in human and rat temporal lobe epilepsy

Cited by 9 publications

References 23 publications

Identification of Key Genes and Biological Pathways in Bipolar Disorder by Bioinformatics and Next Generation Sequencing Data Analysis

Identification of Key Genes and Biological Pathways in Bipolar Disorder by Bioinformatics and Next Generation Sequencing Data Analysis

Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray

Mechanism of Robo1 in the pentylenetetrazol‐kindled epilepsy mouse model

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