Epigenetic Factors and Autism Spectrum Disorders

被引:41
作者
Flashner, Bess M. [1 ]
Russo, Mark E. [1 ]
Boileau, Jenine E. [1 ]
Leong, Derek W. [1 ]
Gallicano, G. Ian [1 ]
机构
[1] Georgetown Univ, Sch Med, Dept Biochem & Mol & Cellular Biol, Washington, DC 20057 USA
关键词
Autism; Autism spectrum disorders; Epigenetics; Neurodevelopmental disorders; RECEPTOR SUBUNIT GENES; ANGELMAN SYNDROME GENE; LINKAGE-DISEQUILIBRIUM; RETT-SYNDROME; PRADER-WILLI; BRAIN-DEVELOPMENT; DNA METHYLATION; X-CHROMOSOME; HISTONE DEACETYLASE; IMPRINTED GENES;
D O I
10.1007/s12017-013-8222-5
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Autism is a complex neurodevelopmental disorder that has significant phenotypic overlap with several diseases, many of which fall within the broader category of autism spectrum disorders (ASDs). The etiology of the disorder is unclear and seems to involve a complex interplay of polygenic as well as environmental factors. We discuss evidence that suggests that epigenetic dysregulation is highly implicated as a contributing cause of ASDs and autism. Specifically, we examine neurodevelopmental disorders that share significant phenotypic overlap with ASDs and feature the dysregulation of epigenetically modified genes including UBE3A, GABA receptor genes, and RELN. We then look at the dysregulated expression of implicated epigenetic modifiers, namely MeCP2, that yield complex and varied downstream pleiotropic effects. Finally, we examine epigenetically mediated parent-of-origin effects through which paternal gene expression dominates that of maternal contributing to contrasting phenotypes implicated in ASDs. Such preliminary evidence suggests that elucidating the complex role of epigenetic regulations involved in ASDs could prove vital in furthering our understanding of the complex etiology of autism and ASDs.
引用
收藏
页码:339 / 350
页数:12
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