叶酸代谢的遗传变异和多发性硬化症的风险
Ali Erkan Aşcı1, Gürdal Orhan2, Bensu Karahalil3,4
1Department of Toxicology, Faculty of Pharmacy, Gaziosmanpaşa University, Tokat, Türkiye.
Neurological research
|April 2, 2024
概括
叶酸代谢的改变,包括较低的维生素B12和较高的囊水平,与多发性硬化症 (MS) 有关. 在MS患者中,MTHFR和MTR的特定基因变异会影响囊水平,但不会影响MS本身的风险.
科学领域:
- 神经免疫学 神经免疫学
- 代谢途径 代谢途径
- 遗传流行病学遗传流行病学
背景情况:
- 多发性硬化症 (MS) 是一种慢性中枢神经系统炎症性疾病,病因不明.
- 一碳代谢的改变与MS病理生理学和遗传易感性有关.
- 研究MS中的基因多态和代谢因素至关重要.
研究的目的:
- 为了检查基因多态性在甲基基叶酸减少酶 (MTHFR),甲氨酸合成酶减少酶 (MTRR) 和甲氨酸合成酶 (MTR) 中的作用.
- 评估同型半氨酸 (Hcy),半氨酸 (Cys) 和维生素B12 (VitB12) 在MS患者的叶酸代谢中的贡献.
- 确定这些因素与MS风险之间的关联.
主要方法:
- 研究包括147名多发性硬化患者和127名健康对照.
- 使用聚合酶链反应-限制片段长度多态 (PCR-RFLP) 分析的基因多态.
- 血中的Hcy,Cys和VitB12水平通过酶相关免疫吸收试验 (ELISA) 测量.
主要成果:
- 与对照组相比,MS患者的Hcy和VitB12水平较低,Cys水平较高.
- 高Cys水平表明,在MS中转硫化途径的转移.
- 在研究的基因多态和MS风险之间没有发现显著的关联.
- MTHFR C677T (T等位基因) 和MTR A2756G (G等位基因) 是MS患者血清Cys升高的危险因素.
- 在MS患者中,MTR A2756G (G等位基因) 与改变的血清VitB12有关.
结论:
- 叶酸代谢,特别是Cys和VitB12水平,在MS患者中发生变化.
- 特定的MTHFR和MTR基因变异影响MS中的Cys水平,独立于MS风险.
- 需要进一步的研究,以阐明将叶酸代谢与多发性硬化症发病症联系在一起的确切机制.
关键词:
叶酸代谢 叶酸代谢在MTHFR的基础上.更多关于 MTRTR 的文章在MTRRR中,MTRR是MTRR.维生素B12是什么意思半氨酸 (cysteine) 是一种氨酸.基因多形态的多态化这是一种同类细胞蛋白 (homocystein).更多相关视频
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