Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Max Born Crescent, Edinburgh, EH9 3BF, UK.
Institute for Research in Immunology and Cancer (IRIC), Department of Medicine, Université de Montréal, Montréal, Québec, H3T 1J4, Canada.
Sci Rep. 2023 Mar 8;13(1):3868. doi: 10.1038/s41598-023-29915-z.
Understanding the molecular pathology of neurodevelopmental disorders should aid the development of therapies for these conditions. In MeCP2 duplication syndrome (MDS)-a severe autism spectrum disorder-neuronal dysfunction is caused by increased levels of MeCP2. MeCP2 is a nuclear protein that binds to methylated DNA and recruits the nuclear co-repressor (NCoR) complex to chromatin via an interaction with the WD repeat-containing proteins TBL1 and TBLR1. The peptide motif in MeCP2 that binds to TBL1/TBLR1 is essential for the toxicity of excess MeCP2 in animal models of MDS, suggesting that small molecules capable of disrupting this interaction might be useful therapeutically. To facilitate the search for such compounds, we devised a simple and scalable NanoLuc luciferase complementation assay for measuring the interaction of MeCP2 with TBL1/TBLR1. The assay allowed excellent separation between positive and negative controls, and had low signal variance (Z-factor = 0.85). We interrogated compound libraries using this assay in combination with a counter-screen based on luciferase complementation by the two subunits of protein kinase A (PKA). Using this dual screening approach, we identified candidate inhibitors of the interaction between MeCP2 and TBL1/TBLR1. This work demonstrates the feasibility of future screens of large compound collections, which we anticipate will enable the development of small molecule therapeutics to ameliorate MDS.
了解神经发育障碍的分子病理学应该有助于为这些疾病开发治疗方法。在 MeCP2 重复综合征 (MDS)-一种严重的自闭症谱系障碍-中,神经元功能障碍是由 MeCP2 水平升高引起的。MeCP2 是一种核蛋白,可与甲基化 DNA 结合,并通过与 WD 重复蛋白 TBL1 和 TBLR1 的相互作用将核共抑制物 (NCoR) 复合物募集到染色质上。在 MDS 动物模型中,与 TBL1/TBLR1 结合的 MeCP2 肽基序对于过量 MeCP2 的毒性至关重要,这表明能够破坏这种相互作用的小分子可能具有治疗用途。为了促进此类化合物的寻找,我们设计了一种简单且可扩展的 NanoLuc 荧光素酶互补测定法,用于测量 MeCP2 与 TBL1/TBLR1 的相互作用。该测定法在阳性和阴性对照之间实现了出色的分离,并且信号变化较小(Z 因子=0.85)。我们使用该测定法结合基于蛋白激酶 A (PKA) 两个亚基的荧光素酶互补的反筛选组合,对化合物文库进行了检测。使用这种双重筛选方法,我们鉴定出了 MeCP2 与 TBL1/TBLR1 相互作用的候选抑制剂。这项工作证明了对大型化合物库进行未来筛选的可行性,我们预计这将能够开发出小分子疗法来改善 MDS。