title: Glycan susceptibility factors in autism spectrum disorders.
abstract: Idiopathic autism spectrum disorders (ASDs) are neurodevelopmental disorders with unknown etiology. An estimated 1:68 children in the U.S. are diagnosed with ASDs, making these disorders a substantial public health issue. Recent advances in genome sequencing have identified numerous genetic variants across the ASD patient population. Many genetic variants identified occur in genes that encode glycosylated extracellular proteins (proteoglycans or glycoproteins) or enzymes involved in glycosylation (glycosyltransferases and sulfotransferases). It remains unknown whether "glycogene" variants cause changes in glycosylation and whether they contribute to the etiology and pathogenesis of ASDs. Insights into glycan susceptibility factors are provided by studies in the normal brain and congenital disorders of glycosylation, which are often accompanied by ASD-like behaviors. The purpose of this review is to present evidence that supports a contribution of extracellular glycans and glycoconjugates to the etiology and pathogenesis of idiopathic ASDs and other types of pervasive neurodevelopmental disorders.
authors.affiliation: Department of Cellular and Molecular Medicine, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, CA 92093, USA.
authors.forename: Chrissa A
authors.initials: CA
authors.lastname: Dwyer
authors.affiliation: Department of Cellular and Molecular Medicine, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: jesko@ucsd.edu.
authors.forename: Jeffrey D
authors.initials: JD
authors.lastname: Esko
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D001921:Brain / Q000378:metabolism; D001923:Brain Chemistry / Q000235:genetics; D006001:Glycoconjugates / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D008958:Models, Molecular; D011134:Polysaccharides / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D012307:Risk Factors
chemical_list: D006001:Glycoconjugates; D011134:Polysaccharides
keywords: Autism; Autism spectrum disorders; Brain extracellular matrix; Dystroglycanopathies; Glycans; Glycosaminoglycans; Glycosylation; Glycosyltransferase; Polysialic acid; Proteoglycans