国际医药卫生导报 ›› 2022, Vol. 28 ›› Issue (21): 2961-2964.DOI: 10.3760/cma.j.issn.1007-1245.2022.21.001

• 专题:脑血管疾病研究 •    下一篇

TGF-β信号转导通路与遗传性脑小血管病

任倩倩  徐隋意  宋士娜  李常新   

  1. 山西医科大学第一医院神经内科,太原 030001
  • 收稿日期:2022-08-10 出版日期:2022-11-01 发布日期:2022-11-16
  • 通讯作者: 李常新,Email:lichangxin0351@sina.com
  • 基金资助:
    山西省基础研究计划(20210302124404、201801D221426);山西医科大学省级博士基金项目(SD2215)

TGF-β signal transduction pathway and hereditary cerebral small vessel diseases

Ren Qianqian, Xu Suiyi, Song Shina, Li Changxin   

  1. Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan 030001, China
  • Received:2022-08-10 Online:2022-11-01 Published:2022-11-16
  • Contact: Li Changxin, Email: lichangxin0351@sina.com
  • Supported by:
    Basic Research Program of Shanxi Province (20210302124404 and 201801D221426); Provincial Doctoral Fund Project of Shanxi Medical University (SD2215)

摘要: 转化生长因子-β(transforming growth factor β,TGF-β)是一类具有生物活性的调节因子,广泛表达于内皮细胞、神经细胞、成纤维细胞、上皮细胞等。TGF-β可通过介导Smad依赖通路和非Smad依赖通路参与多种遗传性脑小血管病(cerebral small vessel disease,CSVD),如CADASIL、CARASIL、HTRA1基因突变相关CSVD(症状携带者)、Fabry病等的发生发展。TGF-β信号通路可能通过影响内皮细胞功能、血管壁结构改变、血脑屏障通透性增加等导致CSVD。但此通路的调节异常不能作为一元论来解释CSVD的发生。本文将对TGF-β蛋白家族及其受体,TGF-β信号转导通路及其转导机制,TGF-β信号通路与遗传性CSVD等方面进行综述。

关键词: 遗传性脑小血管病, 转化生长因子-β, 信号转导通路

Abstract: Transforming growth factor β (TGF-β) is a kind of biologically active regulatory factor, and is widely expressed in endothelial cells, nerve cells, fibroblasts, epithelial cells, etc. TGF-β can participate in hereditary cerebral small vessel diseases (CSVD), such as CADASIL, CARASIL, and HTRA1 gene mutation-related CSVD (symptomatic carriers) and Fabry disease mediating Smad-dependent and -independent signaling pathways. The TGF-β signaling pathway may lead to CSVD by affecting endothelial cell function, structural changes in the vascular wall, and increased permeability of the blood-brain barrier. However, the dysregulation of this pathway cannot be used as a monism to explain the occurrence of CSVD. Therefore, TGF-β protein family and its receptors, TGF-β signal transduction pathway and its transduction mechanism, and TGF-β signal pathway and hereditary CSVD are reviewed in this article.

Key words: Hereditary cerebral small vessel diseases, TGF-β, Signal transduction pathway