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整合药物表观基因组学分析揭示抗癫痫药物对发育途径的影响及叶酸的保护作用。

Integrated Pharmacoepigenomic Analysis Uncovers the Impact of Antiseizure Medications on Developmental Pathways and the Protective Effect of Folic Acid.

作者信息

Mohan Neethu, Banerjee Moinak

机构信息

Human Molecular Genetics Lab, Neurobiology and Genetics Division, BRIC-Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram 695014, India.

BRIC-Regional Centre for Biotechnology, NCR Biotech Science Cluster, Faridabad 121001, India.

出版信息

Int J Mol Sci. 2025 Aug 19;26(16):7981. doi: 10.3390/ijms26167981.

Abstract

Fetal exposure to antiseizure medications (ASMs) can impact organogenesis, resulting in elevated risk of congenital malformations. Despite longstanding clinical awareness of the teratogenic potential of ASMs, the molecular mechanisms remain largely unexplored. To address this multisystem impact of ASMs, an OMIC-based approach was considered to understand the impact of ASMs on methylome and subsequently on proteome and how folic acid (FA) supplementation can counter the teratogenic impact. The study employed an established in vitro embryonic cell line model system, treated with varying concentrations of first-generation ASMs, alone and in combination with FA. Integrated analyses included quantification of global DNA methylation, expression analysis of key epigenetic regulators (DNMTs and TETs), genome-wide methylation profiling using the 935K EPIC array, and LC-MS/MS-based proteomics analysis. The study identified that ASMs can induce global DNA hypomethylation, which was likely to be impacted by dysregulation of DNMT and TET expression. Interestingly, FA co-treatment partially restored DNA methylation as evidenced by global DNA methylation and epigenetic gene expression, and also by compensatory effect via one-carbon metabolism. Genome-wide DNA methylation revealed site-specific hypermethylation at key developmental genes, several of which were reversed with FA. Proteomics analysis identified downregulation of developmentally critical proteins, including those linked to key metabolic processes, while FA co-treatment reversed expression of several such proteins. Integrative methylome-proteome analysis revealed the coordinated regulation of target genes that are linked to congenital abnormalities. Together, these findings offer mechanistic insight into ASM-induced teratogenesis and support FA's potential to mitigate epigenetic and proteomic disruptions. This integrated OMICs based approach identifies key biomarkers which can be used for therapeutic monitoring and help in optimizing maternal epilepsy management.

摘要

胎儿暴露于抗癫痫药物(ASMs)会影响器官形成,导致先天性畸形风险升高。尽管临床上早就意识到ASMs具有致畸潜力,但其分子机制在很大程度上仍未被探索。为了应对ASMs对多系统的影响,考虑采用基于组学的方法来了解ASMs对甲基化组的影响,进而对蛋白质组的影响,以及叶酸(FA)补充如何对抗致畸影响。该研究采用了一个已建立的体外胚胎细胞系模型系统,用不同浓度的第一代ASMs单独处理以及与FA联合处理。综合分析包括全球DNA甲基化定量、关键表观遗传调节因子(DNMTs和TETs)的表达分析、使用935K EPIC阵列进行全基因组甲基化谱分析以及基于液相色谱 - 串联质谱的蛋白质组学分析。研究发现ASMs可诱导全球DNA低甲基化,这可能受到DNMT和TET表达失调的影响。有趣的是,FA联合处理部分恢复了DNA甲基化,这通过全球DNA甲基化和表观遗传基因表达以及一碳代谢的补偿作用得以证明。全基因组DNA甲基化显示关键发育基因存在位点特异性高甲基化,其中一些被FA逆转。蛋白质组学分析确定了发育关键蛋白的下调,包括那些与关键代谢过程相关的蛋白,而FA联合处理逆转了其中几种蛋白的表达。甲基化组 - 蛋白质组综合分析揭示了与先天性异常相关的靶基因的协同调节。总之,这些发现为ASM诱导的致畸作用提供了机制性见解,并支持FA减轻表观遗传和蛋白质组破坏的潜力。这种基于组学的综合方法识别出了关键生物标志物,可用于治疗监测并有助于优化母体癫痫管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bbd/12387082/9129feb473e5/ijms-26-07981-g001.jpg

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