Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Inter-institutional Grad Program on Bioinformatics, University of Sao Paulo, Sao Paulo, SP, Brazil.
Sci Rep. 2019 Feb 28;9(1):3086. doi: 10.1038/s41598-019-38965-1.
Obsessive-compulsive disorder (OCD) is a psychiatric disorder characterized by obsessions and/or compulsions. Different striatal subregions belonging to the cortico-striato-thalamic circuitry (CSTC) play an important role in the pathophysiology of OCD. The transcriptomes of 3 separate striatal areas (putamen (PT), caudate nucleus (CN) and accumbens nucleus (NAC)) from postmortem brain tissue were compared between 6 OCD and 8 control cases. In addition to network connectivity deregulation, different biological processes are specific to each striatum region according to the tripartite model of the striatum and contribute in various ways to OCD pathophysiology. Specifically, regulation of neurotransmitter levels and presynaptic processes involved in chemical synaptic transmission were shared between NAC and PT. The Gene Ontology terms cellular response to chemical stimulus, response to external stimulus, response to organic substance, regulation of synaptic plasticity, and modulation of synaptic transmission were shared between CN and PT. Most genes harboring common and/or rare variants previously associated with OCD that were differentially expressed or part of a least preserved coexpression module in our study also suggest striatum subregion specificity. At the transcriptional level, our study supports differences in the 3 circuit CSTC model associated with OCD.
强迫症(OCD)是一种以强迫观念和/或强迫行为为特征的精神障碍。皮质纹状体丘脑回路(CSTC)中的不同纹状体亚区在 OCD 的病理生理学中起着重要作用。我们比较了来自 6 例 OCD 和 8 例对照的死后脑组织的 3 个独立纹状体区(壳核(PT)、尾状核(CN)和伏隔核(NAC))的转录组。除了网络连通性失调外,根据纹状体的三分体模型,不同的生物学过程是每个纹状体区域特有的,并以各种方式促进 OCD 的病理生理学。具体而言,NAC 和 PT 之间共享神经递质水平的调节和涉及化学突触传递的突触前过程。细胞对化学刺激的反应、对外界刺激的反应、对有机物质的反应、突触可塑性的调节和突触传递的调节等基因本体术语在 CN 和 PT 之间共享。我们研究中差异表达或属于最少保存共表达模块的与 OCD 相关的常见和/或罕见变异体的大多数基因也表明纹状体亚区特异性。在转录水平上,我们的研究支持与 OCD 相关的 CSTC 模型的三个回路的差异。