Medical Genetics Laboratory, Department of Neuroscience and Rehabilitation, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
Section of Physiology, Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.
Mol Med. 2023 Jan 16;29(1):8. doi: 10.1186/s10020-022-00593-3.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impairs normal brain development and socio-cognitive abilities. The pathogenesis of this condition points out the involvement of genetic and environmental factors during in-utero life. Placenta, as an interface tissue between mother and fetus, provides developing fetus requirements and exposes it to maternal environment as well. Therefore, the alteration of DNA methylation as epigenetic consequence of gene-environmental interaction in the placenta could shed light on ASD pathogenesis. In this study, we reviewed the current findings on placental methylation status and its association with ASD. Differentially methylated regions (DMRs) in ASD-developing placenta were found to be mainly enriched in ASD gene loci affecting synaptogenesis, microtubule dynamics, neurogenesis and neuritogenesis. In addition, non-genic DMRs in ASD-placenta proposes an alternative contributing mechanism for ASD development. Our study highlights the importance of placental DNA methylation signature as a biomarker for ASD prediction.
自闭症谱系障碍（ASD）是一种神经发育障碍，会损害正常的大脑发育和社会认知能力。该病症的发病机制指出，遗传和环境因素在子宫内生命期间参与其中。胎盘作为母体和胎儿之间的界面组织，为发育中的胎儿提供所需物质，并使其暴露于母体环境中。因此，胎盘基因-环境相互作用的表观遗传后果——DNA 甲基化的改变，可能为 ASD 的发病机制提供线索。在本研究中，我们综述了胎盘甲基化状态及其与 ASD 相关的最新发现。在 ASD 发育中的胎盘，差异甲基化区域（DMRs）主要富集在影响突触发生、微管动力学、神经发生和神经突生成的 ASD 基因座上。此外，ASD 胎盘中的非基因 DMRs 提出了 ASD 发展的另一种潜在机制。我们的研究强调了胎盘 DNA 甲基化特征作为 ASD 预测生物标志物的重要性。
