■Neurexins,必需的突触蛋白,与自闭症谱系障碍(ASD)和精神分裂症等神经发育和神经精神疾病有关。
■通过这篇系统综述,我们的目的是阐明神经尿蛋白功能障碍及其在神经发育和神经精神表现中的意义之间的关系。动物和人类诱导的多能干细胞(hiPSC)模型都是我们的主要研究平台。
■利用PRISMA2020指南,我们的搜索策略涉及从PubMed和GoogleScholar数据库中搜索文章,涵盖了二十年(2003-2023)。在最初的收藏中,27项经过严格评估的研究构成了我们审查的实质。
■我们的综述表明,神经尿蛋白异常与神经发育和神经精神结局之间存在显著联系,尤其是ASD。基于啮齿动物的调查描绘了明显的ASD相关行为,和来自ASD诊断患者的hiPSC模型揭示了钙动力学和突触活动的破坏。此外,我们的评论强调了特定的Neurexin变体的整体作用,主要是NRXN1,在精神分裂症的病理学中。从我们的观察中还可以明显看出,在更广泛的这些疾病中,纽尿素功能异常与这些疾病有关,包括多动症,智力挑战,和癫痫症。
■这篇综述强调了神经素在神经发育和神经精神疾病的病理过程中的关键作用。这些发现强调了在未来研究中开发动物和hiPSC模型的标准化方法的迫切需要。旨在尽量减少异质性。此外,我们强调需要将研究扩展到研究较少的Neurexin变体(即,NRXN2和NRXN3),扩大我们在这一领域的理解范围。我们的观察还预测hiPSC模型是弥合研究差距的有力工具,促进转化研究,并促进针对患者的治疗干预措施的发展。
UNASSIGNED: Neurexins, essential synaptic proteins, are linked to neurodevelopmental and neuropsychiatric disorders like autism spectrum disorder (ASD) and schizophrenia.
UNASSIGNED: Through this systematic review, we aimed to shed light on the relationship between neurexin dysfunction and its implications in neurodevelopmental and neuropsychiatric manifestations. Both animal and human-induced pluripotent stem cell (hiPSC) models served as our primary investigative platforms.
UNASSIGNED: Utilizing the PRISMA 2020 guidelines, our search strategy involved scouring articles from the PubMed and Google Scholar databases covering a span of two decades (2003-2023). Of the initial collection, 27 rigorously evaluated studies formed the essence of our review.
UNASSIGNED: Our review suggested the significant ties between neurexin anomalies and neurodevelopmental and neuropsychiatric outcomes, most notably ASD. Rodent-based investigations delineated pronounced ASD-associated behaviors, and hiPSC models derived from ASD-diagnosed patients revealed the disruptions in calcium dynamics and synaptic activities. Additionally, our review underlined the integral role of specific neurexin variants, primarily NRXN1, in the pathology of schizophrenia. It was also evident from our observation that neurexin malfunctions were implicated in a broader array of these disorders, including ADHD, intellectual challenges, and seizure disorders.
UNASSIGNED: This review accentuates the cardinal role
neurexins play in the pathological process of neurodevelopmental and neuropsychiatric disorders. The findings underscore a critical need for standardized methodologies in developing animal and hiPSC models for future studies, aiming to minimize heterogeneity. Moreover, we highlight the need to expand research into less studied neurexin variants (i.e., NRXN2 and NRXN3), broadening the scope of our understanding in this field. Our observation also projects hiPSC models as potent tools for bridging research gaps, promoting translational research, and fostering the development of patient-specific therapeutic interventions.