Alteration of TRIM33 Expression at Transcriptional and Translational Levels is Correlated with Autism Symptoms

Ofogh, Sattar Norouzi; Rasoolijazi, Homa; Ananloo, Esmaeil Shahsavand; Shahrivar, Zahra; Joghataei, Mohammad Taghi; Sadeghi, Bahman; Bozorgmehr, Ali; Alizadeh, Fatemeh

doi:10.1007/s12031-020-01783-6

Cited by 3 publications

(3 citation statements)

References 34 publications

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“…The “A allele” (AA rs11102807) alters the TGF- signaling pathway and decreases gene expression, which may raise the risk of autism in offspring. [25] It has not yet been proven whether there is a connection between autism and variations in gene expression.…”

Section: Discussionmentioning

confidence: 99%

Identification of target hub genes and construction of a novel miRNA regulatory network in autism spectrum disorder by integrated analysis

Zhu

Meng

2023

Medicine

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The incidence of autism spectrum disorder (ASD) is increasing year by year in children. The aim of the study was to find possible biomarkers for ASD diagnosis as well as examine MicroRNA (miRNA) signatures and crucial pathways. We conducted a two-stage study to explore potential target genes and functional miRNAs. Peripheral blood samples of children with ASD were enrolled and performed RNA sequencing analysis. The overlapped candidate genes were further screened in combination with differentially expressed genes (DEGs) of GSE77103 datasets. STRING established a protein–protein interaction network comprising DEGs. The hub genes were filtered out using the CytoHubba. Then, we set up a miRNA-mRNA regulatory network. Correlational analyses between hub genes and immune cells associated with ASD were carried out using the CIBERSORT software to assess the diversity of immune cell types in ASD. RNA-sequencing analysis was used to confirm the differential expression of 3 hub genes. Briefly, after blood samples were sequenced interrogating 867 differential genes in our internal screening dataset. After screening GEO databases, 551 DEGs obtained from GSE77103. Fourteen common genes were overlapped through DEGs of GEO datasets and internal screening dataset. Among protein–protein interaction network, 10 hub genes with high degree algorithm were screened out and 3 hub genes of them – ADIPOR1, LGALS3, and GZMB – that were thought to be most associated with the emergence of ASD. Then, we developed a network of miRNA-mRNA regulatory interactions by screening miRNAs (such as hsa-miR-20b-5p, hsa-miR-17-5p, and hsa-miR-216b-5p) that were closely associated to 3 hub genes. Additionally, we discovered 18 different immune cell types associated with ASD using the CIBERSORT algorithm, and we discovered that mononuclear macrophages differed considerably between the 2 groups. Overall, 3 hub genes (ADIPOR1, LGALS3, and GZMB) and 15 candidates miRNAs-target 3 genes regulatory pathways representing potentially novel biomarkers of ASD diseases were revealed. These findings could enhance our knowledge of ASD and offer possible therapeutic targets of ASD patients in the future.

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Section: Discussionmentioning

confidence: 99%

Identification of target hub genes and construction of a novel miRNA regulatory network in autism spectrum disorder by integrated analysis

Zhu

Meng

2023

Medicine

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“…As far as we can see, based on inheritance patterns and clinical correlations, the haploinsufficiency of the genes AP4B1 , LRIG2 , PTPN22 and HIPK1 may not be thought to lead to the phenotype of this family. To the highest degree of our knowledge, only two studies have suggested that TRIM33 might be a candidate gene associated with autism and that the decreased TRIM33 gene expression might be correlated with autism symptoms [ 27 , 28 ]. Despite evidence suggesting a potential correlation between the haploinsufficiency of TRIM33 and the development of autism, a kind of NDDs, the correlation is yet to be established.…”

Section: Discussionmentioning

confidence: 99%

A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree

Yu,

Ding,

Liu

et al. 2023

BMC Med Genomics

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Background A multitude of studies have highlighted that copy number variants (CNVs) are associated with neurodevelopmental disorders (NDDs) characterized by a wide range of clinical characteristics. Benefiting from CNV calling from WES data, WES has emerged as a more powerful and cost-effective molecular diagnostic tool, which has been widely used for the diagnosis of genetic diseases, especially NDDs. To our knowledge, isolated deletions on chromosome 1p13.2 are rare. To date, only a few patients were reported with 1p13.2 deletions and most of them were sporadic. Besides, the correlation between 1p13.2 deletions and NDDs remained unclear. Case presentation Here, we first reported five members in a three-generation Chinese family who presented with NDDs and carried a novel 1.41 Mb heterozygous 1p13.2 deletion with precise breakpoints. The diagnostic deletion contained 12 protein-coding genes and was observed to segregate with NDDs among the members of our reported family. Whether those genes contribute to the patient’s phenotypes is still inconclusive. Conclusions We hypothesized that the NDD phenotype of our patients was caused by the diagnostic 1p13.2 deletion. However, further in-depth functional experiments are still needed to establish a 1p13.2 deletion-NDDs relationship. Our study might supplement the spectrum of 1p13.2 deletion-NDDs.

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“…Furthermore, there were numerous studies investigating the association between behavioral performance and biomolecular levels in the peripheral blood of patients with ASD ( Patrick and Ames, 2014 ; Hewitson and Mathews, 2021 ). Blood-based gene expression could divine infants and toddlers with autism, meanwhile, the alteration of gene expression in the peripheral blood of ASD is related to the core symptoms of autism (such as social impairment and stereotypical behaviors; Makinodan et al, 2017 ; Norouzi Ofogh and Rasoolijazi, 2021 ). Therefore, this study provides evidence for the etiological study of ASD.…”

Section: Discussionmentioning

confidence: 99%

The association between ST8SIA2 gene and behavioral phenotypes in children with autism spectrum disorder

Yang

Lin

Chai

et al. 2022

Front. Behav. Neurosci.

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ObjectiveST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2) encodes a type II membrane protein that is thought to catalyze the transfer of sialic acid (SA) from CMP-SA to N-linked oligosaccharides and glycoproteins. Some population and animal studies have indicated an association between the ST8SIA2 gene and autism spectrum disorder (ASD). However, there is limited information on the correlation between ST8SIA2 and autistic behavioral symptoms.MethodsIn this study, 69 ASD and 76 normal control children who were age- and sex-matched were recruited. ST8SIA2 expression and methylation levels were measured by reverse transcription quantitative real-time PCR and pyrosequencing, respectively, and the behavioral phenotypes of ASD children were assessed.ResultsThe ASD group had lower ST8SIA2 gene expression levels than the control group [t(0.05/2,143) = 2.582, p = 0.011]. Moreover, ST8SIA2 expression levels were positively correlated with daily life skills (rs = 0.381, p = 0.008) and negatively associated with stereotyped behaviors in the ASD group (rs = -0.510, p = 0.004). The methylation levels of the Chr. 15: 92984625 and Chr. 15: 92998561 sites of the ST8SIA2 gene in ASD children were higher than those of controls. The Chr. 15: 92984625 site was positively correlated with the stereotyped behaviors of ASD children (rs = 0.41, p = 0.039).ConclusionThis study provides a scientific basis to elucidate the relationship between the ST8SIA2 gene and behavioral phenotypes of ASD.

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Alteration of TRIM33 Expression at Transcriptional and Translational Levels is Correlated with Autism Symptoms

Cited by 3 publications

References 34 publications

Identification of target hub genes and construction of a novel miRNA regulatory network in autism spectrum disorder by integrated analysis

Identification of target hub genes and construction of a novel miRNA regulatory network in autism spectrum disorder by integrated analysis

A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree

The association between ST8SIA2 gene and behavioral phenotypes in children with autism spectrum disorder

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