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本文引用的文献

1
Role of Histone Methylation in Maintenance of Genome Integrity.组蛋白甲基化在维持基因组完整性中的作用。
Genes (Basel). 2021 Jun 29;12(7):1000. doi: 10.3390/genes12071000.
2
Loss of histone methyltransferase ASH1L in the developing mouse brain causes autistic-like behaviors.发育中的小鼠大脑中组蛋白甲基转移酶 ASH1L 的缺失导致类似自闭症的行为。
Commun Biol. 2021 Jun 18;4(1):756. doi: 10.1038/s42003-021-02282-z.
3
Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?自闭症谱系障碍中单碳代谢途径的遗传学和表观遗传学：性别特异性的大脑表观基因组？
Genes (Basel). 2021 May 20;12(5):782. doi: 10.3390/genes12050782.
4
An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity.自闭症谱系障碍主要遗传、表观遗传和环境因素概述——聚焦于突触活动。
Int J Mol Sci. 2020 Nov 5;21(21):8290. doi: 10.3390/ijms21218290.
5
Genetic Causes and Modifiers of Autism Spectrum Disorder.自闭症谱系障碍的遗传病因及修饰因素
Front Cell Neurosci. 2019 Aug 20;13:385. doi: 10.3389/fncel.2019.00385. eCollection 2019.
6
Thermal Perceptual Thresholds are typical in Autism Spectrum Disorder but Strongly Related to Intra-individual Response Variability.热知觉阈值在自闭症谱系障碍中很常见，但与个体内反应变异性密切相关。
Sci Rep. 2019 Aug 29;9(1):12595. doi: 10.1038/s41598-019-49103-2.
7
The role of oxytocin receptor gene (OXTR) DNA methylation (DNAm) in human social and emotional functioning: a systematic narrative review.催产素受体基因 (OXTR) DNA 甲基化 (DNAm) 在人类社会和情感功能中的作用：系统叙述性综述。
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De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.ASH1L的从头功能丧失变异与一种新出现的神经发育障碍相关。
Eur J Med Genet. 2019 Jan;62(1):55-60. doi: 10.1016/j.ejmg.2018.05.003. Epub 2018 May 22.
9
Epigenetics and Autism Spectrum Disorder: Is There a Correlation?表观遗传学与自闭症谱系障碍：存在关联吗？
Front Cell Neurosci. 2018 Mar 27;12:78. doi: 10.3389/fncel.2018.00078. eCollection 2018.
10
SynDIG4/Prrt1 Is Required for Excitatory Synapse Development and Plasticity Underlying Cognitive Function.SynDIG4/Prrt1 对于认知功能相关的兴奋性突触发育和可塑性是必需的。
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自闭症谱系障碍中的遗传和表观遗传改变。

Genetic and Epigenetic Alterations in Autism Spectrum Disorder.

作者信息

Oztenekecioglu Bugsem, Mavis Merdiye, Osum Meryem, Kalkan Rasime

机构信息

Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Near East University, Nicosia, Cyprus.

Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus.

出版信息

Glob Med Genet. 2021 Sep 15;8(4):144-148. doi: 10.1055/s-0041-1735540. eCollection 2021 Dec.

DOI:10.1055/s-0041-1735540
PMID:34877571
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8635813/
Abstract

It is extremely important to understand the causes of autism spectrum disorder (ASD) which is a neurodevelopmental disease. Treatment and lifelong support of autism are also important to improve the patient's life quality. In this article, several findings were explained to understand the possible causes of ASD. We draw, outline, and describe ASD and its relation with the epigenetic mechanisms. Here, we discuss, several different factors leading to ASD such as environmental, epigenetic, and genetic factors.

摘要

了解自闭症谱系障碍（ASD）这一神经发育疾病的病因极其重要。自闭症的治疗和终身支持对于提高患者生活质量也很重要。在本文中，阐述了几项研究结果以了解ASD的可能病因。我们绘制、概述并描述了ASD及其与表观遗传机制的关系。在此，我们讨论了导致ASD的几个不同因素，如环境、表观遗传和遗传因素。