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Epigenetic regulation in Autism spectrum disorder

机译：自闭症谱系障碍的表观遗传调控

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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by an impaired social communication skill and often results in repetitive, stereotyped behavior which is observed in children during the first few years of life. Other characteristic of this disorder includes language disabilities, difficulties in sensory integration, lack of reciprocal interactions and in some cases, cognitive delays. One percentage of the general population is affected by ASD and is four times more common in boys than girls. There are hundreds of genes, which has been identified to be associated with ASD etiology. However it remains difficult to comprehend our understanding in defining the genetic architecture necessary for complete exposition of its pathophysiology. Seeing the complexity of the disease, it is important to adopt a multidisciplinary approach which should not only focus on the “genetics” of autism but also on epigenetics, transcriptomics, immune system disruption and environmental factors that could all impact the pathogenesis of the disease. As environmental factors also play a key role in regulating the trigger of ASD, the role of chromatin remodeling and DNA methylation has started to emerge. Such epigenetic modifications directly link molecular regulatory pathways and environmental factors, which might be able to explain some aspects of complex disorders like ASD. The present review will focus on the role of epigenetic regulation in defining the underlying cause for ASD.
机译：自闭症谱系障碍（ASD）是一种神经发育障碍，其特征是社交沟通能力受损，通常会导致反复的，刻板的行为，这种行为在儿童出生后的头几年中观察到。这种疾病的其他特征包括语言障碍，感觉统合困难，缺乏相互互动以及在某些情况下认知迟缓。 ASD影响了总人口的百分之一，男孩的普遍性是女孩的四倍。有数百种基因已被确定与ASD病因有关。然而，在定义完整阐明其病理生理学所必需的遗传结构时，仍然难以理解我们的理解。鉴于疾病的复杂性，采用多学科方法非常重要，该方法不仅应关注孤独症的“遗传学”，而且还应关注可能影响疾病发病机理的表观遗传学，转录组学，免疫系统破坏和环境因素。由于环境因素在调节ASD的触发中也起着关键作用，因此染色质重塑和DNA甲基化的作用开始出现。这种表观遗传修饰直接将分子调控途径与环境因素联系起来，这也许可以解释复杂疾病（如ASD）的某些方面。本综述将集中在表观遗传调控在定义自闭症的根本原因中的作用。

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