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自闭症谱系障碍的发病机制——强调分子方面的跨文献综述。

Autism Spectrum Disorder Pathogenesis-A Cross-Sectional Literature Review Emphasizing Molecular Aspects.

机构信息

Institute of Medical Sciences, Jan Kochanowski University, Al. IX Wiekow Kielc 19A, 25-516 Kielce, Poland.

Student Scientific Society at Collegium Medicum, Jan Kochanowski University, Al. IX Wiekow Kielc 19A, 25-516 Kielce, Poland.

出版信息

Int J Mol Sci. 2024 Oct 20;25(20):11283. doi: 10.3390/ijms252011283.

DOI:10.3390/ijms252011283
PMID:39457068
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11508848/
Abstract

The etiology of autism spectrum disorder (ASD) has not yet been completely elucidated. Through time, multiple attempts have been made to uncover the causes of ASD. Different theories have been proposed, such as being caused by alterations in the gut-brain axis with an emphasis on gut dysbiosis, post-vaccine complications, and genetic or even autoimmune causes. In this review, we present data covering the main streams that focus on ASD etiology. Data collection occurred in many countries covering ethnically diverse subjects. Moreover, we aimed to show how the progress in genetic techniques influences the explanation of medical White Papers in the ASD area. There is no single evidence-based pathway that results in symptoms of ASD. Patient management has constantly only been symptomatic, and there is no ASD screening apart from symptom-based diagnosis and parent-mediated interventions. Multigene sequencing or epigenetic alterations hold promise in solving the disjointed molecular puzzle. Further research is needed, especially in the field of biogenetics and metabolomic aspects, because young children constitute the patient group most affected by ASD. In summary, to date, molecular research has confirmed multigene dysfunction as the causative factor of ASD, the multigene model with metabolomic influence would explain the heterogeneity in ASD, and it is proposed that ion channel dysfunction could play a core role in ASD pathogenesis.

摘要

自闭症谱系障碍(ASD)的病因尚未完全阐明。随着时间的推移,人们已经多次尝试揭示 ASD 的病因。提出了不同的理论,例如肠道-大脑轴的改变,强调肠道菌群失调、疫苗接种后并发症以及遗传甚至自身免疫原因。在这篇综述中,我们介绍了涵盖主要研究方向的 ASD 病因数据。这些数据来自许多国家,涵盖了种族多样的研究对象。此外,我们旨在展示遗传技术的进步如何影响 ASD 领域医学白皮书的解释。没有单一的基于证据的途径会导致 ASD 的症状。患者管理一直只是对症治疗,除了基于症状的诊断和家长介导的干预措施外,没有 ASD 筛查。多基因测序或表观遗传改变有望解决不相关的分子难题。需要进一步研究,特别是在生物遗传学和代谢组学方面,因为 ASD 受影响最严重的患者群体是幼儿。总之,迄今为止,分子研究已经证实了多基因功能障碍是 ASD 的致病因素,具有代谢组学影响的多基因模型可以解释 ASD 的异质性,并且提出离子通道功能障碍可能在 ASD 发病机制中起核心作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0205/11508848/0a3a214890fa/ijms-25-11283-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0205/11508848/0a3a214890fa/ijms-25-11283-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0205/11508848/0a3a214890fa/ijms-25-11283-g001.jpg

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本文引用的文献

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