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MTHFR Functional Polymorphism C677T and Genomic Instability in the Etiology of Idiopathic Autism in Simplex Families

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Final rept. 30 Sep 2012-29 Sep 2014

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Autism Spectrum Disorder ASD are a group of neurodevelopmental disorders that are caused by a range of factors, including genetic, epigenetic and environmental, with a geneticepigenetic model proposed Jiang et al., 2004. While a main focus of autism research remains on the genetic causes, more and more attention was srawn to the role epigenetic factors play, as it has been shown to play a role in idiopathic autism. With our previous published study revealed significantly association of C677T polymorphism in MTHFR gene with idiopathic autism in Simplex SPX autism families Liu et al., 2011 and the proven facts that de novo CNVs rates are consistently high in SPX ASD 5.8-10.2 versus familial ASD 2-3, we hypothesize that low-activity MTHFR 677T allele leads to increase global DNA hypomethylation and consequently results in increased generation of de novo CNVs bringing about a higher risk for developing sporadic cases of autism. We propose to test 1 the association of MTHFR 677T allele with rate of ASD related de novo CNVs 2 the association of MTHFR 677T allele with increased level of global hypomethylation and 3 the association of level of global hypomethylation with increased rate of ASD related de novo CNVs.

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  • Psychology
  • Medicine and Medical Research

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