The Notch1/Hes1 pathway regulates Neuregulin 1/ErbB4 and participates in microglial activation in rats with VPA-induced autism

Deng, Yanan; Ma, Liping; Du, Ziwei; Ma, Huixin; Xia, Yuxi; Ping, Liran; Chen, Zhaoxing; Zhang, Yinghua

doi:10.1016/j.pnpbp.2024.110947

Cited by 2 publications

(1 citation statement)

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“…Moreover, studies in human-induced pluripotent stem cells from affected subjects demonstrated that the NRG-ErbB pathway is related to psychiatric disorders [24][25][26]. In a recent study, Yanan Deng reported that inhibition of the Notch pathway using DAPT alleviated autism-like behaviors and reduced NRG1 and phosphorylated ErbB4 levels, suggesting the involvement of the Notch1/Hes1 pathway in regulating the NRG1/ErbB4 pathway in autism [27].…”

Section: Introductionmentioning

confidence: 99%

Neuregulin 2 Is a Candidate Gene for Autism Spectrum Disorder

Chien,

Chen,

Cheng

et al. 2024

IJMS

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Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneous and complex genetic underpinnings. Our previous microarray gene expression profiling identified significantly different neuregulin-2 gene (NRG2) expression between ASD patients and controls. Thus, we aimed to clarify whether NRG2 is a candidate gene associated with ASD. The study consisted of two stages. First, we used real-time quantitative PCR in 20 ASDs and 20 controls to confirm the microarray gene expression profiling results. The average NRG2 gene expression level in patients with ASD (3.23 ± 2.80) was significantly lower than that in the controls (9.27 ± 4.78, p < 0.001). Next, we conducted resequencing of all the exons of NRG2 in a sample of 349 individuals with ASD, aiming to identify variants of the NRG2 associated with ASD. We identified three variants, including two single nucleotide variants (SNVs), IVS3 + 13A > G (rs889022) and IVS10 + 32T > A (rs182642591), and one small deletion at exon 11 of NRG2 (delGCCCGG, rs933769137). Using data from the Taiwan Biobank as the controls, we found no significant differences in allele frequencies of rs889022 and rs182642591 between two groups. However, there is a significant difference in the genotype and allele frequency distribution of rs933769137 between ASDs and controls (p < 0.0001). The small deletion is located in the EGF-like domain at the C-terminal of the NRG2 precursor protein. Our findings suggest that NRG2 might be a susceptibility gene for ASD.

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Section: Introductionmentioning

confidence: 99%

Neuregulin 2 Is a Candidate Gene for Autism Spectrum Disorder

Chien,

Chen,

Cheng

et al. 2024

IJMS

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Unraveling Neurodevelopmental Disorders: Signalling Pathways as Potential Targets for Therapeutic Intervention in Autism Spectrum Disorder

Suchitra,

P. S

2024

Biomed. Pharmacol. J.

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Introduction: Autism Spectrum Disorder (ASD) presents a multifaceted challenge with limited therapeutic options and a need for early biomarkers. Understanding disrupted signalling pathways offers promise for intervention and assessment. Methods: Literature review spanning genetic, pre-clinical, and patient studies elucidating pathways implicated in ASD pathogenesis, including melatonin, mTOR, Retinoic acid, Hedgehog, Notch and Wnt signalling. Results: Core components of key signalling pathways, such as melatonin, mTOR, Retinoic acid, Hedgehog, Notch and Wnt, are dysregulated in ASD. These pathways regulate crucial aspects of the nervous system, including immune function, neuronal growth, neurotransmission, and metabolism. Discussion: Manipulating these pathways could potentially modify ASD traits by influencing brain development and immune homeostasis. Targeting specific nodes within these pathways may offer novel therapeutic approaches for ASD management. Additionally, identifying biomarkers associated with pathway dysregulation could enable earlier diagnosis and monitoring of disease progression. Conclusion: Understanding the intricate interplay of signalling pathways in ASD pathogenesis provides insights into potential therapeutic targets and biomarkers. Further research into the manipulation of these pathways and their impact on ASD traits is warranted to advance personalized treatment strategies and improve outcomes for individuals with ASD.

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The Notch1/Hes1 pathway regulates Neuregulin 1/ErbB4 and participates in microglial activation in rats with VPA-induced autism

Cited by 2 publications

References 50 publications

Neuregulin 2 Is a Candidate Gene for Autism Spectrum Disorder

Neuregulin 2 Is a Candidate Gene for Autism Spectrum Disorder

Unraveling Neurodevelopmental Disorders: Signalling Pathways as Potential Targets for Therapeutic Intervention in Autism Spectrum Disorder

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