血管内皮细胞体细胞突变与脑血管畸形

doi:10.3969/j.issn.1006-7795.2024.03.002

摘要/Abstract

摘要： 脑血管畸形 (cerebral vascular malformations, CVMs) 是指脑血管在胚胎时期因各种内、外界因素的影响，导致基因、细胞因子和蛋白等发生改变而引起的脑局部血管数量和结构的非肿瘤性发育异常所导致的疾病。血管内皮细胞基因突变作为关键始动因素之一，在CVMs的发生发展中起到了重要作用。了解CVMs中存在的内皮细胞突变对于预防其发生发展，开发靶向药物及指导临床治疗具有重要意义。本文将针对血管内皮细胞体细胞突变在CVMs中的发现、临床相关性及潜在的治疗意义进行综述。

关键词: 脑血管畸形, 内皮细胞, 体细胞突变, 靶向治疗

Abstract: Cerebral vascular malformations (CVMs) are non-neoplastic lesions of local brain vasculature in which the quantity and structure of cerebral vessels are altered due to genetic, cytokine, and protein changes caused by various intrinsic and extrinsic factors during embryonic development. Somatic mutations in endothelial cells, as one of the initiating factors, play a crucial role in the occurrence and development of CVMs. Understanding the endothelial cell mutations in CVMs is of great significance for preventing CVMs occurrence and development, developing targeted drugs, and guiding clinical treatment. This review focuses on the discovery, clinical relevance, and potential therapeutic implications of endothelial cell somatic mutations in CVMs.

Key words: cerebral vascular malformations, endothelial cell, somatic mutation, targeted therapy

中图分类号:

R743

赵绍智, 曹勇. 血管内皮细胞体细胞突变与脑血管畸形[J]. 首都医科大学学报, 2024, 45(3): 379-384.

Zhao Shaozhi, Cao Yong. Somatic mutations in endothelial cells and cerebral vascular malformations[J]. Journal of Capital Medical University, 2024, 45(3): 379-384.

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