Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Department of Neurosurgery, Stanford University School of Medicine, Stanford, CA, USA.
J Cereb Blood Flow Metab. 2023 Jul;43(7):1194-1205. doi: 10.1177/0271678X231162184. Epub 2023 Mar 8.
The association of exosomal RNA profiling and pathogenesis of moyamoya disease (MMD) and intracranial Atherosclerotic disease (ICAD) is unknown. In this study, we investigated the RNA profiles of sEV (small extracellular vesicles)/exosomes in patients with MMD and ICAD. Whole blood samples were collected from 30 individuals, including 10 patients with MMD, 10 patients with ICAD, and 10 healthy individuals. Whole transcriptome analysis was performed using the GeneChip WT Pico Reagent kit. Transcriptional correlation was verified using quantitative reverse transcription-polymerase chain reaction (qRT-PCR). The association between functional dysregulation and candidate RNAs was studied . In total, 1,486 downregulated and 2,405 upregulated RNAs differed significantly between patients with MMD and healthy controls. Differential expression of six circRNAs was detected using qPCR. Among these significantly differentially expressed RNAs, IPO11 and PRMT1 circRNAs were upregulated, whereas CACNA1F circRNA was downregulated. This is the first study showing that the differential expression of exosomal RNAs associated with MMD pathogenesis, such as overexpression of IPO11 and PRMT1 circRNAs, may be related to angiogenesis in MMD. The downregulation of CACNA1F circRNA may be related to vascular occlusion. These results propose the utility of exosomal RNAs as biological markers in MMD.
外泌体 RNA 谱与烟雾病（MMD）和颅内动脉粥样硬化性疾病（ICAD）发病机制的关联尚不清楚。在这项研究中，我们研究了 MMD 和 ICAD 患者 sEV（小细胞外囊泡）/外泌体的 RNA 谱。采集了 30 名个体的全血样本，包括 10 名 MMD 患者、10 名 ICAD 患者和 10 名健康个体。使用 GeneChip WT Pico Reagent 试剂盒进行全转录组分析。使用定量逆转录聚合酶链反应（qRT-PCR）验证转录相关性。研究了功能失调与候选 RNA 之间的关联。总共发现 1486 个下调和 2405 个上调的 RNA 在 MMD 患者和健康对照之间存在显著差异。使用 qPCR 检测了六个 circRNA 的差异表达。在这些显著差异表达的 RNA 中，IPO11 和 PRMT1 circRNA 上调，而 CACNA1F circRNA 下调。这是第一项表明与 MMD 发病机制相关的外泌体 RNA 差异表达（如 IPO11 和 PRMT1 circRNA 的过表达）的研究，可能与 MMD 中的血管生成有关。CACNA1F circRNA 的下调可能与血管闭塞有关。这些结果提出了外泌体 RNA 作为 MMD 生物标志物的应用。
