The landscape of DNA methylation amid a perfect storm of autism aetiologies.
The landscape of DNA methylation amid a perfect storm of autism aetiologies.
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DOI：
10.1038/nrn.2016.41
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发表时间：
2016-07
期刊：
影响因子：
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通讯作者：
LaSalle J
中科院分区：
文献类型：
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作者：
Vogel Ciernia A;LaSalle J
越来越多的证据表明，自闭症谱系障碍（ASD）中基因与环境之间存在复杂的相互作用，包括Rett综合征中罕见的染色质基因新发突变，如甲基cpg结合蛋白2 （MECP2）。DNA甲基化等表观遗传机制作用于这一界面，反映了代谢和神经发育调节基因通路的可塑性。基因序列、基因通路和DNA甲基化的全基因组研究为ASD提供了有价值的机制见解。DNA甲基化的动态发展格局很容易受到许多遗传和环境的损害：因此，了解这一“完美风暴”的核心途径对于改善自闭症谱系障碍的诊断和治疗至关重要。
Increasing evidence points to a complex interplay between genes and the environment in autism spectrum disorder (ASD), including rare de novo mutations in chromatin genes such as methyl-CpG binding protein 2 (MECP2) in Rett syndrome. Epigenetic mechanisms such as DNA methylation act at this interface, reflecting the plasticity in metabolic and neurodevelopmentally regulated gene pathways. Genome-wide studies of gene sequences, gene pathways and DNA methylation are providing valuable mechanistic insights into ASD. The dynamic developmental landscape of DNA methylation is vulnerable to numerous genetic and environmental insults: therefore, understanding pathways that are central to this ‘perfect storm’ will be crucial to improving the diagnosis and treatment of ASD.