Endosomal system genetics and autism spectrum disorders: A literature review

被引:8
|
作者
Patak, Jameson [1 ]
Zhang-James, Yanli [2 ]
Faraone, Stephen V. [1 ,2 ,3 ]
机构
[1] SUNY Upstate Med Univ, Dept Neurosci & Physiol, 750 E Adams St, Syracuse, NY 13210 USA
[2] SUNY Upstate Med Univ, Dept Psychiat, 750 E Adams St, Syracuse, NY 13210 USA
[3] Univ Bergen, KG Jebsen Ctr Neuropsychiat Disorders, Dept Biomed, Bergen, Norway
来源
关键词
Autism spectrum disorder (ASD); Genetics; Endosomal system; Endosome dysregulation; Recycling; Trafficking; mTOR; DEFICIT HYPERACTIVITY DISORDER; OXYTOCIN RECEPTOR GENE; NA+/H+ EXCHANGER NHE6; ATTENTION-DEFICIT/HYPERACTIVITY-DISORDER; GENOME-WIDE ASSOCIATION; CELL-ADHESION MOLECULE; DE-NOVO MUTATIONS; HIPPOCAMPAL-NEURONS; MENTAL-RETARDATION; SEROTONIN TRANSPORTER;
D O I
10.1016/j.neubiorev.2016.03.022
中图分类号
B84 [心理学]; C [社会科学总论]; Q98 [人类学];
学科分类号
03 ; 0303 ; 030303 ; 04 ; 0402 ;
摘要
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. (C) 2016 Elsevier Ltd. All rights reserved.
引用
收藏
页码:95 / 112
页数:18
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