School of Mathematical Sciences, Dublin City University, Glasnevin, Dublin 9, D09 W6Y4, Ireland.
Neuropsychiatric Genetics, Department of Psychiatry, Trinity College Dublin, School of Medicine, Trinity Translational Medicine Institute, Trinity Center for Health Sciences, St James Hospital, Dublin 8, Dublin, Ireland.
Sci Rep. 2020 Dec 17;10(1):22255. doi: 10.1038/s41598-020-79268-0.
MECP2 and its product, Methyl-CpG binding protein 2 (MeCP2), are mostly known for their association to Rett Syndrome (RTT), a rare neurodevelopmental disorder. Additional evidence suggests that MECP2 may underlie other neuropsychiatric and neurological conditions, and perhaps modulate common presentations and pathophysiology across disorders. To clarify the mechanisms of these interactions, we develop a method that uses the binding properties of MeCP2 to identify its targets, and in particular, the genes recognized by MeCP2 and associated to several neurological and neuropsychiatric disorders. Analysing mechanisms and pathways modulated by these genes, we find that they are involved in three main processes: neuronal transmission, immuno-reactivity, and development. Also, while the nervous system is the most relevant in the pathophysiology of the disorders, additional systems may contribute to MeCP2 action through its target genes. We tested our results with transcriptome analysis on Mecp2-null models and cells derived from a patient with RTT, confirming that the genes identified by our procedure are directly modulated by MeCP2. Thus, MeCP2 may modulate similar mechanisms in different pathologies, suggesting that treatments for one condition may be effective for related disorders.
MECP2 及其产物甲基化 CpG 结合蛋白 2(MeCP2)主要与雷特综合征(RTT)相关,RTT 是一种罕见的神经发育障碍。更多证据表明,MECP2 可能是其他神经精神和神经疾病的基础,并可能调节跨疾病的常见表现和病理生理学。为了阐明这些相互作用的机制,我们开发了一种使用 MeCP2 的结合特性来识别其靶标的方法,特别是识别 MeCP2 识别并与几种神经和神经精神疾病相关的基因。分析这些基因调节的机制和途径,我们发现它们涉及三个主要过程:神经元传递、免疫反应和发育。此外,虽然神经系统是这些疾病病理生理学中最相关的系统,但通过其靶基因,其他系统也可能对 MeCP2 产生影响。我们使用 Mecp2 缺失模型和来自 RTT 患者的细胞进行了转录组分析来验证我们的结果,证实了我们的方法所鉴定的基因确实受 MeCP2 的直接调控。因此,MeCP2 可能在不同的病理状态下调节相似的机制,这表明一种疾病的治疗方法可能对相关疾病有效。