Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.

Matthew F Pescosolido, Unikora Yang, Mark Sabbagh, Eric M Morrow

Dialogues in clinical neuroscience 2012 Sep

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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.

Citation

Matthew F Pescosolido, Unikora Yang, Mark Sabbagh, Eric M Morrow. Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders. Dialogues in clinical neuroscience. 2012 Sep;14(3):239-52