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• W2004107164 abstract "Recent genomic research into autism spectrum disorders (ASD) has revealed a remarkably complex genetic architecture. Large numbers of common variants, copy number variations and single nucleotide variants have been identified, yet each of them individually afforded only a small phenotypic impact. A polygenic model in which multiple genes interact either in an additive or a synergistic way appears the most plausible for the majority of ASD patients. Based on recently identified ASD candidate genes, transgenic mouse models for neuroligins/neurorexins and genes such as <i>Cntnap2,</i><i>Cntn5, Tsc1, Tsc2, Akt3, Cyfip1, Scn1a, En2, Slc6a4</i>, and <i>Bckdk</i> have been generated and studied with respect to behavioral and neuroanatomical phenotypes and sensitivity to drug treatments. From these models, a few clues for potential pharmacologic intervention emerged. The <i>Fmr1,</i><i>Shank2</i> and <i>Cntn5</i> knockout mice exhibited alterations of glutamate receptors, which may become a target for pharmacologic modulation. Some of the phenotypes of <i>Mecp2</i> knockout mice can be ameliorated by administering IGF1. In the near future, comprehensive genotyping of individual patients and siblings combined with the novel insights generated from the transgenic animal studies may provide us with personalized treatment options. Eventually, autism may indeed turn out to be a phenotypically heterogeneous group of disorders (‘autisms') caused by combinations of changes in multiple possible candidate genes, being different in each patient and requiring for each combination of mutations a distinct, individually tailored treatment." @default.
• W2004107164 created "2016-06-24" @default.
• W2004107164 creator A5014005532 @default.
• W2004107164 date "2013-01-01" @default.
• W2004107164 modified "2023-09-23" @default.
• W2004107164 title "Towards Identification of Individual Etiologies by Resolving Genomic and Biological Conundrums in Patients with Autism Spectrum Disorders" @default.
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• W2004107164 doi "https://doi.org/10.1159/000350041" @default.
• W2004107164 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3711481" @default.
• W2004107164 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23885228" @default.
• W2004107164 hasPublicationYear "2013" @default.
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