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

Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders. Dialogues Clin Neurosci. 2012 Sep;14(3):239-52 Authors: Pescosolido MF, Yang U, Sabbagh M, Morrow EM 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. PMID: 23226950 [PubMed - indexed for MEDLINE]
Source: Dialogues in Clinical Neuroscience - Category: Neuroscience Tags: Dialogues Clin Neurosci Source Type: research