Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, China.
Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, 310029, China.
World J Pediatr. 2019 Feb;15(1):17-25. doi: 10.1007/s12519-018-0210-2. Epub 2019 Jan 3.
Autism spectrum disorder (ASD), a pervasive developmental neurological disorder, is characterized by impairments in social interaction and communication, and stereotyped, repetitive patterns of interests or behaviors. The mechanism of ASDs is complex, and genetic components and epigenetic modifications play important roles. In this review, we summarized the recent progresses of ASDs focusing on the genetic and epigenetic mechanisms. We also briefly discussed current animal models of ASD and the application of high-throughput sequencing technologies in studying ASD.
Original research articles and literature reviews published in PubMed-indexed journals.
Individuals with ASDs exhibit a set of phenotypes including neurological alteration. Genetic components including gene mutation, copy-number variations, and epigenetic modifications play important and diverse roles in ASDs. The establishment of animal models and development of new-generation sequencing technologies have contributed to reveal the complicated mechanisms underlying autistic phenotypes.
Dramatic progress has been made for understanding the roles of genetic and epigenetic components in ASD. Future basic and translational studies should be carried out towards those candidate therapeutic targets.
自闭症谱系障碍（ASD）是一种普遍存在的神经发育障碍，其特征是社交互动和沟通障碍，以及刻板、重复的兴趣或行为模式。ASD 的发病机制复杂，遗传因素和表观遗传修饰起着重要作用。在这篇综述中，我们总结了 ASDs 的最新进展，重点介绍了遗传和表观遗传机制。我们还简要讨论了目前的 ASD 动物模型和高通量测序技术在 ASD 研究中的应用。
在 PubMed 索引期刊上发表的原始研究文章和文献综述。
ASD 患者表现出一系列表型，包括神经改变。遗传因素包括基因突变、拷贝数变异和表观遗传修饰在 ASDs 中发挥着重要且多样化的作用。动物模型的建立和新一代测序技术的发展有助于揭示自闭症表型背后复杂的机制。
在理解遗传和表观遗传成分在 ASD 中的作用方面已经取得了显著进展。未来的基础和转化研究应针对这些候选治疗靶点进行。
