Mary Horrigan Connors Center for Women's Health and Gender Biology, USA; Department of Psychiatry, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Prog Neuropsychopharmacol Biol Psychiatry. 2023 Jul 13;125:110756. doi: 10.1016/j.pnpbp.2023.110756. Epub 2023 Mar 21.
Epigenetic changes, such as DNA methylation (DNAm), may represent an important mechanism implicated in the etiopathogenesis of functional movement/conversion disorder (FMD). Here, we aimed to identify methylomic variations in a case-control cohort of FMD and to uncover specific epigenetic signatures associated with female sex and childhood abuse, two key risk factors for FMD and other functional neurological disorders. Genome-wide DNAm analysis was performed from peripheral blood in 57 patients with FMD and 47 healthy controls with and without childhood abuse. Using principal component analysis, we examined the association of principal components with FMD status in abused and non-abused individuals, in the entire study sample and in female subjects only. Next, we used enrichment pathway analysis to investigate the biological significance of DNAm changes and explored differences in methylation levels of genes annotated to the top enriched biological pathways shared across comparisons. We found that FMD was associated with DNAm variation across the genome and identified a common epigenetic 'signature' enriched for biological pathways implicated in chronic stress and chronic pain. However, methylation levels of genes included in the top two shared pathways hardly overlapped, suggesting that transcriptional profiles may differ as a function of childhood abuse exposure and sex among subjects with FMD. This study is unique in providing genome-wide evidence of DNAm changes in FMD and in indicating a potential mechanism linking childhood abuse exposure and female sex to differences in FMD pathophysiology. Future studies are needed to replicate our findings in independent cohorts.
表观遗传改变,如 DNA 甲基化(DNAm),可能代表了功能性运动/转换障碍(FMD)发病机制中的一个重要机制。在这里,我们旨在确定 FMD 病例对照队列中的甲基组学变化,并揭示与女性性别和儿童期虐待相关的特定表观遗传特征,这是 FMD 和其他功能性神经障碍的两个关键风险因素。对 57 名 FMD 患者和 47 名有/无儿童期虐待的健康对照者的外周血进行了全基因组 DNAm 分析。我们使用主成分分析,检查了在受虐待和未受虐待的个体、整个研究样本中和仅女性个体中,主成分与 FMD 状态的关联。接下来,我们使用富集途径分析来研究 DNAm 变化的生物学意义,并探索了在跨比较共享的顶级富集生物学途径中注释的基因的甲基化水平差异。我们发现 FMD 与整个基因组的 DNAm 变异有关,并确定了一个常见的表观遗传“特征”,该特征富含与慢性应激和慢性疼痛相关的生物学途径。然而,包含在两个共享途径顶端的基因的甲基化水平几乎没有重叠,这表明转录谱可能因 FMD 患者的儿童期虐待暴露和性别而异。这项研究的独特之处在于提供了 FMD 中 DNAm 变化的全基因组证据,并表明了一种潜在的机制,将儿童期虐待暴露和女性性别与 FMD 病理生理学的差异联系起来。需要在独立队列中复制我们的发现。