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神经管畸形是最常见的出生缺陷,孕期服用叶酸能降低神经管畸形(NTDs)发生的危险。叶酸缺乏是神经管畸形发生的主要环境因素,但其机制尚不清楚,通过对与叶酸代谢有关的酶基因:5,10-亚甲基四氢叶酸还原酶基因(MTHFR)、丝氨酸羟甲基转移酶(SHMT)、蛋氨酸合成酶还原酶(MTRR)、β胱硫醚合酶(CBS)、尼克酰胺-腺嘌呤-二核氨酸磷酸依赖的细胞质多功能酶(MTHFD)、甜菜碱高半胱氨酸甲基转移酶(BHMT)的结构功能、调控、表达及其与叶酸水平、高半胱氨酸(Hcy)水平和神经管畸形的关系等研究进展加以综述。
Neural tube defects are the most common birth defects and taking folic acid during pregnancy reduces the risk of neural tube defects (NTDs). Folic acid deficiency is the main environmental factor in the occurrence of neural tube defects, but its mechanism is not clear. Through the enzyme genes related to folic acid metabolism: 5,10-methylenetetrahydrofolate reductase gene (MTHFR), serine hydroxymethyl SHMT, MTRR, CBS, MTHFD, betaine high The structure, function, regulation and expression of cystine methyltransferase (BHMT) and its relationship with folic acid level, homocysteine (Hcy) level and neural tube defects were reviewed.