title: Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.
abstract: In this review, we outline critical molecular processes that have been implicated by discovery of genetic mutations in autism. These mechanisms need to be mapped onto the neurodevelopment step(s) gone awry that may be associated with cause in autism. Molecular mechanisms include: (i) regulation of gene expression; (ii) pre-mRNA splicing; (iii) protein localization, translation, and turnover; (iv) synaptic transmission; (v) cell signaling; (vi) the functions of cytoskeletal and scaffolding proteins; and (vii) the function of neuronal cell adhesion molecules. While the molecular mechanisms appear broad, they may converge on only one of a few steps during neurodevelopment that perturbs the structure, function, and/or plasticity of neuronal circuitry. While there are many genetic mutations involved, novel treatments may need to target only one of few developmental mechanisms.
authors.affiliation: Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
authors.forename: Matthew F
authors.initials: MF
authors.lastname: Pescosolido
authors.forename: Unikora
authors.initials: U
authors.lastname: Yang
authors.forename: Mark
authors.initials: M
authors.lastname: Sabbagh
authors.forename: Eric M
authors.initials: EM
authors.lastname: Morrow
mesh_terms: D001321:Autistic Disorder / Q000150:complications / Q000235:genetics / Q000378:metabolism; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics* / Q000378:metabolism; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D005786:Gene Expression Regulation / Q000502:physiology*; D006801:Humans; D012322:RNA Precursors / Q000235:genetics; D015398:Signal Transduction; D009435:Synaptic Transmission / Q000502:physiology
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D003598:Cytoskeletal Proteins; D012322:RNA Precursors