针对血管异常的有针对性的管理
Jessie T Lu1,2,3, Marra Aghajani2, Deshan F Sebaratnam1,2,3
1School of Clinical Medicine, University of New South Wales Medicine and Health, Sydney, New South Wales, Australia.
概括
在PI3K/AKT/mTOR和RAS/RAF/MEK/ERK通路中的遗传变异驱动血管异常. 包括mTOR和PIK3CA抑制剂在内的向疗法为这些以前罕见的疾病提供了个性化的治疗选择.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 药理学 药理学是指药理学的学科.
背景情况:
- 血管异常常常与影响关键信号通路的遗传变异有关.
- PI3K/AKT/mTOR和RAS/RAF/MEK/ERK通路经常与血管异常的发病有关.
- 以前,这些罕见疾病的有效治疗方法有限.
研究的目的:
- 审查血管异常的遗传基础.
- 综合当前关于基于遗传途径的有针对性的治疗策略的知识.
- 为了突出转向个性化,基因型导向管理的转变.
主要方法:
- 现有文学作品的叙述性回顾.
- 在PubMed,谷歌学者和EMBASE进行文献搜索.
- 专注于遗传途径和血管异常的新兴疗法.
主要成果:
- mTOR 抑制剂在各种血管形中表现出有效性.
- PIK3CA抑制剂用于与PIK3CA相关的过度生长频谱 (PROS).
- 目前正在进行的AKT,MEK和BRAF抑制剂的试验,用于特定的血管异常,如蛋白质综合征和动脉静脉形.
结论:
- 识别分子通路已经彻底改变了血管异常治疗.
- 重用现有药物使得基因型导向的个性化患者护理成为可能.
- 针对性治疗对于以前的孤儿疾病来说是一个重大进步.
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