Nature:自闭症中整个大脑皮层的转录组广泛失调

顾汉现

Nature:自闭症中整个大脑皮层的转录组广泛失调

自闭症谱系障碍 (ASD)分子水平的失调，特征是转录组学和表观遗传学改变。特别是影响兴奋性神经元和胶质细胞。自闭症谱系障碍 (ASD)中，分子病理学涉及小胶质细胞、星形胶质细胞和神经免疫基因的上调、突触基因的下调以及皮质中基因表达梯度的减弱。本文是自闭症发病机理、病理学等关联的基础医学研究论文。
(Baidu Translation: )
Nature: Extensive disorder of transcriptome in the whole cerebral cortex in autism
Disorders at the molecular level of autism spectrum disorder (ASD) are characterized by transcriptome and epigenetic changes. Especially affect excitatory neurons and glial cells. In autism spectrum disorder (ASD), molecular pathology involves the up regulation of microglia, astrocytes and neuroimmune genes, the down regulation of synaptic genes and the decrease of gene expression gradient in cortex. This is a basic medical research paper related to the pathogenesis and pathology of autism.
（百度翻訳： ）
Nature：自閉症における大脳皮質全体の転写群の広範な失調
自閉症系統障害（ASD）分子レベルの不調は、転写群学と見かけ遺伝学的変化を特徴とする。特に興奮性ニューロンと膠細胞に影響を与える。自閉症系統障害（ASD）において、分子病理学は小膠細胞、星型膠細胞と神経免疫遺伝子の上方修正、シナプス遺伝子の下方修正及び皮質中の遺伝子発現勾配の弱化に関する。本文は自閉症の発病機序、病理学などの関連基礎医学研究論文である。
https://www.linkresearcher.com/t ... 0-8c33-86c67c767a00
https://news.bioon.com/article/43b4e5015809.html
Nature:Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD
https://www.nature.com/articles/s41586-022-05377-7

领研网

2022/11/28

论文

论文标题：Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD
作者：Michael J. Gandal, Jillian R. Haney, Brie Wamsley, Chloe X. Yap, Sepideh Parhami, Prashant S. Emani, Nathan Chang, George T. Chen, Gil D. Hoftman, Diego de Alba, Gokul Ramaswami, Christopher L. Hartl, Arjun Bhattacharya, Chongyuan Luo, Ting Jin, Daifeng Wang, Riki Kawaguchi, Diana Quintero, Jing Ou, Ye Emily Wu, Neelroop N. Parikshak, Vivek Swarup, T. Grant Belgard, Mark Gerst

期刊：Nature
发表时间：2022/11/02
数字识别码：10.1038/s41586-022-05377-7
摘要：Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has demonstrated dysregulation at the molecular level, characterized by transcriptomic and epigenetic alterations1,2,3. In autism spectrum disorder (ASD), this molecular pathology involves the upregulation of microglial, astrocyte and neural–immune genes, the downregulation of synaptic genes, and attenuation of gene-expression gradients in cortex1,2,4,5,6. However, whether these changes are limited to cortical association regions or are more widespread remains unknown. To address this issue, we performed RNA-sequencing analysis of 725 brain samples spanning 11 cortical areas from 112 post-mortem samples from individuals with ASD and neurotypical controls. We find widespread transcriptomic changes across the cortex in ASD, exhibiting an anterior-to-posterior gradient, with the greatest differences in primary visual cortex, coincident with an attenuation of the typical transcriptomic differences between cortical regions. Single-nucleus RNA-sequencing and methylation profiling demonstrate that this robust molecular signature reflects changes in cell-type-specific gene expression, particularly affecting excitatory neurons and glia. Both rare and common ASD-associated genetic variation converge within a downregulated co-expression module involving synaptic signalling, and common variation alone is enriched within a module of upregulated protein chaperone genes. These results highlight widespread molecular changes across the cerebral cortex in ASD, extending beyond association cortex to broadly involve primary sensory regions.

所属学科：
神经医学
（导读 阿金）自闭症中大脑分子病理涉及皮层中的小胶质细胞、星形胶质细胞和神经免疫基因的上调、突触基因的下调以及基因表达梯度减弱。本研究分析112名自闭症患者和正常对照者死后样本中的725个大脑样本进行了RNA测序，发现自闭症大脑皮层中广泛的分子变化，范围超出皮层关联区，广泛涉及到初级感觉区。

文章标签
自闭症
大脑病理学
小胶质细胞
星形胶质细胞
神经免疫基因
突触基因
基因表达
RNA测序

https://www.nature.com/articles/s41586-022-05377-7

https://www.linkresearcher.com/t ... 0-8c33-86c67c767a00

《自然》：自闭症患者大脑变化的广泛性，远超以往认知！
https://news.bioon.com/article/43b4e5015809.html



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