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The epigenetic regulation of synaptic genes contributes to the etiology of autism
Reviews in the Neurosciences ( IF 3.4 ) Pub Date : 2021-05-03 , DOI: 10.1515/revneuro-2021-0014
Annamaria Srancikova 1 , Zuzana Bacova 1 , Jan Bakos 1, 2
Affiliation  

Epigenetic mechanisms greatly affect the developing brain, as well as the maturation of synapses with pervasive, long-lasting consequences on behavior in adults. Substantial evidence exists that implicates dysregulation of epigenetic mechanisms in the etiology of neurodevelopmental disorders. Therefore, this review explains the role of enzymes involved in DNA methylation and demethylation in neurodevelopment by emphasizing changes of synaptic genes and proteins. Epigenetic causes of sex-dependent differences in the brain are analyzed in conjunction with the pathophysiology of autism spectrum disorders. Special attention is devoted to the epigenetic regulation of the melanoma-associated antigen-like gene 2 (MAGEL2) found in Prader-Willi syndrome, which is known to be accompanied by autistic symptoms.

中文翻译:

突触基因的表观遗传调控有助于自闭症的病因

表观遗传机制极大地影响发育中的大脑,以及突触的成熟,对成年人的行为产生普遍、持久的影响。存在大量证据表明神经发育障碍病因中表观遗传机制的失调。因此,本综述通过强调突触基因和蛋白质的变化来解释参与 DNA 甲基化和去甲基化的酶在神经发育中的作用。结合自闭症谱系障碍的病理生理学分析了大脑中性别依赖性差异的表观遗传原因。特别关注黑色素瘤相关抗原样基因 2 的表观遗传调控。MAGEL2)在已知伴有自闭症症状的 Prader-Willi 综合征中发现。
更新日期:2021-05-03
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