Modernising autism spectrum disorder model engineering and treatment <i>via</i> CRISPR-Cas9: A gene reprogramming approach

Sandhu, Arushi; Sharma, Anil Kumar; Rawat, Kajal; Gautam, Vipasha; Sharma, Antika; Saha, Lekha

doi:10.12998/wjcc.v11.i14.3114

Cited by 5 publications

(1 citation statement)

References 93 publications

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“…It is well-known that treating genetic disorders is a complex challenge, typically addressed by a comprehensive, multi-faceted team employing various therapeutic modalities. One of the emerging approaches in treating genetic disorders involves gene editing [100][101][102]. This technique uses a biological system, such as CRISPR/Cas9, to precisely excise a specific gene segment and employ a biological vector to insert a desired sequence [103][104][105][106].…”

Section: Discussionmentioning

confidence: 99%

Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review

Cooper,

Mittal,

Sangadi

et al. 2024

JCM

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Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social communication challenges and repetitive behaviors. Recent research has increasingly focused on the genetic underpinnings of ASD, with the Neurexin 1 (NRXN1) gene emerging as a key player. This comprehensive systematic review elucidates the contribution of NRXN1 gene variants in the pathophysiology of ASD. Methods: The protocol for this systematic review was designed a priori and was registered in the PROSPERO database (CRD42023450418). A risk of bias analysis was conducted using the Joanna Briggs Institute (JBI) critical appraisal tool. We examined various studies that link NRXN1 gene disruptions with ASD, discussing both the genotypic variability and the resulting phenotypic expressions. Results: Within this review, there was marked heterogeneity observed in ASD genotypic and phenotypic manifestations among individuals with NRXN1 mutations. The presence of NRXN1 mutations in this population emphasizes the gene’s role in synaptic function and neural connectivity. Conclusion: This review not only highlights the role of NRXN1 in the pathophysiology of ASD but also highlights the need for further research to unravel the complex genetic underpinnings of the disorder. A better knowledge about the multifaceted role of NRXN1 in ASD can provide crucial insights into the neurobiological foundations of autism and pave the way for novel therapeutic strategies.

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Section: Discussionmentioning

confidence: 99%

Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review

Cooper,

Mittal,

Sangadi

et al. 2024

JCM

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Human pluripotent stem cell (hPSC)-derived models for autism spectrum disorder drug discovery

Nie,

Irwin,

Geahchan

et al. 2024

Expert Opinion on Drug Discovery

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Causal Relationship between Attention-Deficit Hyperactivity Disorder and Autism Spectrum Disorder: A Two-Sample Mendelian Randomization

Jiang,

Li,

Zeng

et al. 2024

Br J Hosp Med

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Aims/Background Despite the exponential increase in the incidence rate of Autism spectrum disorder (ASD), effective therapies for the disorder are still limited. According to vast clinical observations, the pathogeneses of ASD and Attention-deficit hyperactivity disorder (ADHD) share a great deal of similarities. This serves as a prompt to investigate, in this study, whether patients with ADHD are at a higher risk for ASD, which is significant for disease prevention. Methods Data concerning ADHD as the exposure variable and ASD as the outcome variable were collected from the publicly available Integrative Epidemiology Unit Open GWAS project (IEU GWAS) database. After screening the instrumental variables (IVs), statistical analysis was performed using the TwoSampleMR package of version R4.3.1, and sensitivity testing was conducted to evaluate the stability and reliability of the results. Results After screening the Single nucleotide polymorphisms (SNPs) through the calculation of F-value and Mendelian randomization (MR) Pleiotropy RESidual Sum and Outlier test (MR-PRESSO), seven SNPs that satisfied the three major assumptions of Mendelian randomization were selected as IVs and could be used in place of ADHD in exploring the aforementioned causal relationship. The Odds ratio (OR) for the random-effect Inverse-variance weighted (IVW) method was 1.31 (95% Confidence interval [CI]: 1.14–1.52; p = 0.0001). A similar trend was observed for the Weighted median estimator (WME) method, with an OR of 1.37 (wider 95% CI: 1.15–1.64; p = 0.0005). Conclusion This study includes the pooled data on ADHD and ASD from the IEU GWAS public database, and there is sufficient evidence that patients with ADHD have a higher risk of ASD.

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Modernising autism spectrum disorder model engineering and treatment via CRISPR-Cas9: A gene reprogramming approach

Cited by 5 publications

References 93 publications

Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review

Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review

Human pluripotent stem cell (hPSC)-derived models for autism spectrum disorder drug discovery

Causal Relationship between Attention-Deficit Hyperactivity Disorder and Autism Spectrum Disorder: A Two-Sample Mendelian Randomization

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