Research Unit of Medical Genetics, Department of Medicine, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo, 21, 00128 Roma, Italy.
Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo, 200, 00128 Roma, Italy.
Genes (Basel). 2023 Feb 25;14(3):585. doi: 10.3390/genes14030585.
Neurodevelopmental Disorders (NDs) are a heterogeneous group of disorders and are considered multifactorial diseases with both genetic and environmental components. Epigenetic dysregulation driven by adverse environmental factors has recently been documented in neurodevelopmental disorders as the possible etiological agent for their onset. However, most studies have focused on the epigenomes of the probands rather than on a possible epigenetic dysregulation arising in their mothers and influencing neurodevelopment during pregnancy. The aim of this research was to analyze the methylation profile of four well-known genes involved in neurodevelopment (, , and ) in the mothers of forty-five age-matched AS (Asperger Syndrome), ADHD (Attention Deficit Hyperactivity Disorder) and typically developing children. We found a significant increase of methylation at the promoter of the and genes in AS mothers compared to ADHD and healthy control mothers. For the gene, promoter methylation was significantly higher in AS mothers compared to healthy control mothers only. The observed dysregulation in AS mothers could potentially contribute to the affected condition in their children deserving further investigation.
神经发育障碍(NDs)是一组异质性疾病,被认为是具有遗传和环境因素的多因素疾病。最近在神经发育障碍中发现,由不利环境因素驱动的表观遗传失调可能是其发病的潜在病因。然而,大多数研究都集中在先证者的表观基因组上,而不是关注可能在其母亲中出现的、影响妊娠期间神经发育的表观遗传失调。本研究旨在分析四十五例年龄匹配的 AS(阿斯伯格综合征)、ADHD(注意力缺陷多动障碍)和正常发育儿童的母亲中四个参与神经发育的已知基因(、、和)的甲基化谱。我们发现,与 ADHD 和健康对照组母亲相比,AS 母亲的和基因启动子的甲基化显著增加。对于基因,与健康对照组母亲相比,AS 母亲的启动子甲基化明显更高。AS 母亲中观察到的失调可能潜在地导致其子女的受影响状况,值得进一步研究。