叶酸代谢相关基因多态性与其个体化补充的研究进展

发布时间：2018-01-21 06:31

本文关键词： 叶酸亚甲基四氢叶酸还原酶蛋氨酸合成酶还原酶同型半胱氨酸基因多态性个体化补充　出处：《中国药房》2017年17期 　论文类型：期刊论文

【摘要】：目的:了解叶酸代谢相关基因多态性与其个体化补充的研究进展。方法:查阅近年来国内外相关文献,就叶酸代谢通路的相关基因、叶酸与同型半胱氨酸(Hcy)的关系以及叶酸补充等方面的研究进行归纳和总结。结果:叶酸代谢相关基因亚甲基四氢叶酸还原酶(MTHFR)C677T和蛋氨酸合成酶还原酶(MTRR)A66G与多种疾病的发生存在相关性。Hcy血浆浓度可作为衡量叶酸水平的标准。叶酸缺乏,妊娠期妇女会出现不良妊娠结局,同时导致胚胎时期的神经管缺陷,出生后的脑病,成人期的缺血性脑卒中、痴呆、抑郁症等神经变性疾病和神经精神疾病,甚至影响男性生殖能力;叶酸过量,会掩盖因维生素B12缺乏引起的贫血和神经系统障碍等,并降低体内的自然杀伤细胞数量及机体免疫力。结论:叶酸代谢相关基因多态性导致叶酸血药浓度水平差异较大。通过检测患者叶酸代谢相关基因多态性以及叶酸和Hcy的水平,评估叶酸代谢能力,为患者制订个体化的叶酸补充方案是未来临床的必然发展趋势。
[Abstract]:Objective: to understand the research progress of folic acid metabolism related gene polymorphism and its individualized supplement. Methods: to review the relevant literature in recent years and analyze the related genes of folic acid metabolism pathway. The relationship between folic acid and homocysteine Hcyl and folic acid supplementation were summarized. Results: methylene tetrahydrofolate reductase (MTHFR) was a gene related to folate metabolism. C677T and methionine synthase reductase (MTRRN A66G) were correlated with the occurrence of many diseases. Plasma concentration of Hcy could be used as the standard to measure the level of folic acid. Women during pregnancy will have adverse pregnancy outcomes, and will lead to embryonic neural tube defects, postnatal encephalopathy, adult ischemic stroke, dementia, depression and other neurodegenerative diseases and neuropsychiatric diseases. Even affecting male reproductive ability; Excessive folic acid, will cover up due to vitamin B12 deficiency caused by anemia and neurological disorders. It also reduced the number of natural killer cells and immunity in vivo. The polymorphisms of folic acid metabolism-related genes led to great differences in serum folic acid concentrations. The polymorphisms of folate metabolism-related genes and the levels of folic acid and Hcy were detected. Evaluation of folic acid metabolism and individualized folic acid supplementation for patients is an inevitable trend of clinical development in the future.
【作者单位】：昆明市第一人民医院药学部;大理大学药学与化学学院;
【分类号】：R969
【正文快照】： 叶酸代谢酶亚甲基四氢叶酸还原酶(MTHFR)、蛋氨酸合成酶还原酶(MTRR)和蛋氨酸合成酶(MTR)的基因多态性是影响唇裂、唐氏综合征等疾病发病的重要因素[1-2]。叶酸代谢基因与某些临床不良事件存在一定的相关性,如不良妊娠事件(复发性流产、低体质量患儿、早产儿和出生缺陷等)、癌

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