title: Endosomal system genetics and autism spectrum disorders: A literature review.
abstract: 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.
authors.affiliation: Dept. of Neuroscience and Physiology, Upstate Medical University, Syracuse, NY, United States. Electronic address: patakj@upstate.edu.
authors.forename: Jameson
authors.initials: J
authors.lastname: Patak
authors.affiliation: Dept of Psychiatry, Upstate Medical University, Syracuse, NY, United States. Electronic address: zhangy@upstate.edu.
authors.forename: Yanli
authors.initials: Y
authors.lastname: Zhang-James
authors.affiliation: Dept. of Neuroscience and Physiology, Upstate Medical University, Syracuse, NY, United States; Dept of Psychiatry, Upstate Medical University, Syracuse, NY, United States; K.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway. Electronic address: sfaraone@childpsychresearch.org.
authors.forename: Stephen V
authors.initials: SV
authors.lastname: Faraone
mesh_terms: D000067877:Autism Spectrum Disorder; D015415:Biomarkers; D002659:Child Development Disorders, Pervasive; D006801:Humans
chemical_list: D015415:Biomarkers
keywords: Autism spectrum disorder (ASD); Endosomal system; Endosome dysregulation; Genetics; Recycling; Trafficking; mTOR