Endosomal system genetics and autism spectrum disorders: A literature review.
Endosomal system genetics and autism spectrum disorders: A literature review.
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DOI：
10.1016/j.neubiorev.2016.03.022
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发表时间：
2016-06
影响因子：
8.2
通讯作者：
Faraone SV
中科院分区：
文献类型：
--
作者：
Patak J;Zhang-James Y;Faraone SV
自闭症谱系障碍（ASDs）是一组衰弱的神经发育障碍，由于其高遗传性，被认为具有遗传病因。内体系统在ASD病理生理中的作用越来越大。为了总结内体系统基因与自闭症之间的关系，我们进行了系统的文献综述。我们在PubMed上搜索相关文章。使用Simons Foundation Autism Research Initiative （SFARI）基因数据库排除与asd相关证据不足的基因相关文章。我们的搜索保留了55篇文章，分为两类：调节基因和由内体系统调节的基因。我们的综述表明，内体系统是一个涉及asd以及其他神经精神疾病的新途径。由于其独特的代谢和功能需求，它在神经元和神经胶质细胞特别依赖的细胞生理学方面起着核心作用。该系统显示出生物标志物和药理学干预的潜力，因此对该途径进行更多的研究是必要的。
Autism spectrum disorders (ASDs) are a group of debilitating neurodevelopmental disorders thought to have genetic etiology, due to their high heritability. The endosomal system has become increasingly implicated in ASD pathophysiology. In an attempt to summarize the association between endosomal system genes and ASDs we performed a systematic review of the literature. We searched PubMed for relevant articles. Simons Foundation Autism Research Initiative (SFARI) gene database was used to exclude articles regarding genes with less than minimal evidence for association with ASDs. Our search retained 55 articles reviewed in two categories: genes that regulate and genes that are regulated by the endosomal system. Our review shows that the endosomal system is a novel pathway implicated in ASDs as well as other neuropsychiatric disorders. It plays a central role in aspects of cellular physiology on which neurons and glial cells are particularly reliant, due to their unique metabolic and functional demands. The system shows potential for biomarkers and pharmacological intervention and thus more research into this pathway is warranted.