Li Hao, Yan Zihan, Huo Ran, Ya Xiaolong, Xu Hongyuan, Liu Zechen, Jiao Yuming, Weng Jiancong, Wang Jie, Wang Shuo, Cao Yong
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, 119 South Fourth Ring Road West, Fengtai District, Beijing, 100071, China.
China National Clinical Research Center for Neurological Diseases, Beijing, China.
Chin Neurosurg J. 2022 Jun 2;8(1):13. doi: 10.1186/s41016-022-00282-4.
A brain arteriovenous malformation (BAVM) is a tangle of abnormal blood vessels connecting the arteries and veins in the brain and is associated with a higher risk for intracerebral hemorrhage (ICH). RNA sequencing technology has been recently used to investigate the mechanism of diseases owing to its ability to identify the gene changes on a transcriptome-wide level. This study aims to gain insights into the potential mechanism involved in BAVM rupture.
Sixty-five BAVM nidus samples were collected, among which 28 were ruptured and 37 were un-ruptured. Then, next-generation RNA sequencing was performed on all of them to obtain differential expressed genes (DEGs) between the two groups. In addition, bioinformatics analysis was performed to evaluate the involved biological processes and pathways by GO and KEGG analysis. Finally, we performed a univariate Cox regression analysis to obtain the early rupture-prone DEGs.
A total of 951 genes were differentially expressed between the ruptured and un-ruptured BAVM groups, of which 740 genes were upregulated and 211 genes were downregulated in ruptured BAVMs. Then, bioinformatics analysis showed the biological processes and pathways related to the inflammatory processes and extracellular matrix organization were significantly enriched. Meanwhile, some downregulated genes are involved in cell adhesion and genes participating in response to muscle activity and the terms of nervous system development. Finally, one hundred twenty-five genes, many were involved in inflammation, were correlated with the early rupture of BAVMs.
The upregulated genes in the ruptured BAVM group were involved in inflammatory processes and extracellular matrix organization. Some of the downregulated genes participated in cell adhesion and myofibril assembly, indicating the role of enhanced inflammation and reduced inflammation vessel strength in BAVMs rupture.
脑动静脉畸形（BAVM）是连接脑内动脉和静脉的异常血管团，与脑出血（ICH）风险较高相关。由于RNA测序技术能够在全转录组水平上识别基因变化，最近已被用于研究疾病机制。本研究旨在深入了解BAVM破裂所涉及的潜在机制。
收集65个BAVM病灶样本，其中28个为破裂样本，37个为未破裂样本。然后，对所有样本进行二代RNA测序，以获得两组之间的差异表达基因（DEG）。此外，通过GO和KEGG分析进行生物信息学分析，以评估所涉及的生物学过程和通路。最后，进行单变量Cox回归分析以获得早期易破裂的DEG。
破裂和未破裂的BAVM组之间共有951个基因差异表达，其中740个基因在破裂的BAVM中上调，211个基因下调。然后，生物信息学分析表明与炎症过程和细胞外基质组织相关的生物学过程和通路显著富集。同时，一些下调基因参与细胞黏附，以及参与对肌肉活动反应和神经系统发育相关的基因。最后，125个基因（其中许多与炎症有关）与BAVM的早期破裂相关。
破裂的BAVM组中的上调基因参与炎症过程和细胞外基质组织。一些下调基因参与细胞黏附和肌原纤维组装，表明炎症增强和血管强度降低在BAVM破裂中的作用。
