小柯机器人

美国约翰·霍普金斯大学Thomas M. Hyde、Peter P. Zandi等研究人员合作利用双相情感障碍的杏仁核和前扣带转录组揭示下调的神经免疫和突触途径。相关论文于2022年3月7日在线发表在《自然—神经科学》杂志上。

研究人员从双相情感障碍（BD）患者和神经典型对照者的死后大脑中获得了前扣带回皮层和杏仁核样本的转录组，包括来自295个独特捐赠者的511个总样本。研究人员揭示了病例和对照组之间的基因表达差异以及与BD相关的遗传变异的转录效应。研究人员发现有两个共同表达的模块与BD的转录变化有关：一个富含免疫和炎症基因，另一个富含与突触后膜有关的基因。超过50%的BD全基因组显著位点含有显著的表达量性状位点（eQTL），这些数据汇聚在几个单独的基因上，包括SCN2A和GRIN2A。因此，这些数据暗示了可能有助于BP病理的特定基因和途径。

据了解，最近的遗传研究已经确定了与BD相关的变体，但仍不清楚大脑基因表达在BD中是如何改变的，以及BD的遗传风险如何促成这些改变。

附：英文原文

Title: Amygdala and anterior cingulate transcriptomes from individuals with bipolar disorder reveal downregulated neuroimmune and synaptic pathways

Author: Zandi, Peter P., Jaffe, Andrew E., Goes, Fernando S., Burke, Emily E., Collado-Torres, Leonardo, Huuki-Myers, Louise, Seyedian, Arta, Lin, Yian, Seifuddin, Fayaz, Pirooznia, Mehdi, Ross, Christopher A., Kleinman, Joel E., Weinberger, Daniel R., Hyde, Thomas M.

Issue&Volume: 2022-03-07

Abstract: Recent genetic studies have identified variants associated with bipolar disorder (BD), but it remains unclear how brain gene expression is altered in BD and how genetic risk for BD may contribute to these alterations. Here, we obtained transcriptomes from subgenual anterior cingulate cortex and amygdala samples from post-mortem brains of individuals with BD and neurotypical controls, including 511 total samples from 295 unique donors. We examined differential gene expression between cases and controls and the transcriptional effects of BD-associated genetic variants. We found two coexpressed modules that were associated with transcriptional changes in BD: one enriched for immune and inflammatory genes and the other with genes related to the postsynaptic membrane. Over 50% of BD genome-wide significant loci contained significant expression quantitative trait loci (QTL) (eQTL), and these data converged on several individual genes, including SCN2A and GRIN2A. Thus, these data implicate specific genes and pathways that may contribute to the pathology of BP. The authors obtained transcriptomes from anterior cingulate cortex and amygdala samples from post-mortem brains of individuals with bipolar disorder and neurotypical controls. They observed decreased expression of neuroimmune and synaptic pathways.

DOI: 10.1038/s41593-022-01024-6

Source: https://www.nature.com/articles/s41593-022-01024-6

Nature Neuroscience：《自然—神经科学》，创刊于1998年。隶属于施普林格·自然出版集团，最新IF：28.771
官方网址：https://www.nature.com/neuro/
投稿链接：https://mts-nn.nature.com/cgi-bin/main.plex