Unraveling the Role of Neuroligin3 in Autism Spectrum Disorders: Pathophysiological Insights and Targeted Therapies.

IF 2.7 4区 医学 Q3 NEUROSCIENCES
Fatima Azzahrae El Yacoubi, Mohamed Oukabli, Azeddine Ibrahimi, Hassan Kisra, Mounia Bensaid
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引用次数: 0

Abstract

Autism Spectrum Disorder is a neurodevelopmental disorder characterized by impaired social and communication skills, repetitive behaviors, and/or restricted interests with a prevalence of as high as 1% of children. Autism spectrum has strongly associated with genetic factors and exhibits wide clinical and heterogeneous genetic architecture. Most genes associated with Autism are involved in neuronal and synaptic development. The neuroligin3, the sex-linked gene on the X chromosome, was the first gene to be associated with a monogenic form of Autism. Neuroligin3 is a postsynaptic cell adhesion protein involved in synapse transmission, brain formation, and neuronal development. In this review, we provide recent findings on different mutations in the Neuroligin3 gene linked to Autism spectrum disorder and their molecular pathway effect. We also give the behavioral, and synaptic alterations reported in the Neuroligin3 animal model of Autism and the potential therapeutic strategies targeting the biological processes and the main symptoms of autism spectrum disorder. In addition, we discuss the use of novel technologies like induced pluripotent stem cells from Autistic patients that have the potential to differentiate in human neurons and therefore have a variety of applications in therapy and biomedical studies to search specific biomarkers, and develop systems for screening chemical molecules in human cells to discover target therapies.

揭示 Neuroligin3 在自闭症谱系障碍中的作用:病理生理学见解和靶向治疗。
自闭症谱系障碍是一种神经发育障碍,以社交和沟通能力受损、行为重复和/或兴趣受限为特征,发病率高达儿童的 1%。自闭症谱系与遗传因素密切相关,表现出广泛的临床和异质性遗传结构。大多数与自闭症相关的基因都涉及神经元和突触的发育。X 染色体上的性连锁基因 neuroligin3 是第一个与单基因自闭症相关的基因。Neuroligin3 是一种突触后细胞粘附蛋白,参与突触传递、大脑形成和神经元发育。在这篇综述中,我们将介绍与自闭症谱系障碍有关的 Neuroligin3 基因不同突变的最新发现及其分子途径效应。我们还介绍了 Neuroligin3 自闭症动物模型的行为和突触改变,以及针对自闭症谱系障碍的生物过程和主要症状的潜在治疗策略。此外,我们还讨论了自闭症患者诱导多能干细胞等新技术的使用,这些细胞具有分化为人类神经元的潜力,因此可广泛应用于治疗和生物医学研究,以寻找特定的生物标志物,并开发在人类细胞中筛选化学分子的系统,以发现靶向疗法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
5.10
自引率
3.30%
发文量
158
审稿时长
6-12 weeks
期刊介绍: Aims & Scope CNS & Neurological Disorders - Drug Targets aims to cover all the latest and outstanding developments on the medicinal chemistry, pharmacology, molecular biology, genomics and biochemistry of contemporary molecular targets involved in neurological and central nervous system (CNS) disorders e.g. disease specific proteins, receptors, enzymes, genes. CNS & Neurological Disorders - Drug Targets publishes guest edited thematic issues written by leaders in the field covering a range of current topics of CNS & neurological drug targets. The journal also accepts for publication original research articles, letters, reviews and drug clinical trial studies. As the discovery, identification, characterization and validation of novel human drug targets for neurological and CNS drug discovery continues to grow; this journal is essential reading for all pharmaceutical scientists involved in drug discovery and development.
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