在MTHFR基因中的多态性和由脑脉动脉同血管性诱导的侧向循环形成之间的关联
Gan Gao1,2, Xiang-Yang Bao2, Qian-Nan Wang2
11Chinese PLA Medical School, Beijing, China.
Journal of neurosurgery
|April 5, 2024
概括
在EDAS手术后,MTHFR rs9651118基因突变与莫亚莫亚病患者的更好的附带血管网络形成有关. 这与改变的同型半氨酸和内皮原生细胞水平有关.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 血管生物学 血管生物学
背景情况:
- 莫亚莫亚病 (MMD) 是一种脑血管疾病,其特征是内动脉的渐进性狭窄.
- 脑关节血管新生症 (EDAS) 是一种手术程序,用于改善MMD患者的脑血流.
- 形成担保循环对于预防MMD中缺血事件至关重要.
研究的目的:
- 为了研究MTHFR基因多态性,同类氨酸 (Hcy) 水平和内皮原生细胞 (EPC) 数量之间的关联.
- 确定这些因素是否影响MMD患者在EDAS后的附带血管网络形成.
主要方法:
- 118名接受EDAS治疗的中国MMD患者进行了前性研究.
- 分析了MTHFR rs9651118基因型,血清Hcy和外周血液EPC水平.
- 在手术后6个月使用松岛分级系统评估了附带循环.
主要成果:
- 与野生类型 (TT) 相比,MTHFR rs9651118突变 (TC和CC基因型) 与显著较低的Hcy水平和更高的EPC数量有关.
- 患有突变MTHFRrs9651118基因型的患者在EDAS后显著改善了附带循环 (更高的松岛等级).
- 在异合体 (TC) 和同合体 (CC) 突变之间没有观察到附带形成的显著差异.
结论:
- 在MMD中,MTHFR rs9651118多态性作为预测MMD后EDAS后附带血管网络形成的潜在生物标志物.
- 在MTHFR的遗传变异可能会通过Hcy和EPC调节影响MMD的血管修复机制.
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