Abstract：
The methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) are three regulatory enzymes in the folic acid (FA) cycle play a critical role in the balance of methionine and homocysteine. MTHFR and MTRR gene polymorphisms affect the biochemical activities of enzymes, impairing the remethylation of homocysteine to methionine. In 1972, severe MTHFR deficiency resulting in homocystinuria was first reported, suggesting MTHFR involvement in the disease. MTHFR C677T polymorphism can independently increase the risk of high homocysteine (HHcy) in plasma. Elevation of homocysteine levels could increase the risk of microvascular damage, thrombosis, heart disease, etc. Vascular complications were regarded as a leading major cause of diabetes mortality, and disability increases individual health and economic burden. Diabetes mellitus (DM) is a chronic inflammatory disease, and conventional medications do not provide a complete cure for diabetes. It was essential to identify other risk factors for the intervention and prevention of diabetes. MTHFR gene polymorphism is an emerging risk factor in diabetes. Recent studies have shown that polymorphisms of the MTHFR gene play a significant role in the pathophysiology of diabetes, including inflammation and insulin resistance. This review summarizes the association between MTHER gene polymorphism and diabetes.
摘要：
亚甲基四氢叶酸还原酶（MTHFR），蛋氨酸合成酶（MTR），甲硫氨酸合成酶还原酶(MTRR)是叶酸(FA)循环中的三种调节酶,在甲硫氨酸和高半胱氨酸的平衡中起关键作用。MTHFR和MTRR基因多态性影响酶的生化活性，损害同型半胱氨酸再甲基化为蛋氨酸。1972年，首次报道了严重的MTHFR缺乏导致高半胱氨酸尿症，提示MTHFR参与该疾病。MTHFRC677T多态性可独立增加血浆高同型半胱氨酸（HHcy）的风险。同型半胱氨酸水平升高可增加微血管损伤的风险,血栓形成,心脏病,等。血管并发症被认为是糖尿病死亡的主要原因。残疾增加了个人健康和经济负担。糖尿病(DM)是一种慢性炎症性疾病。和传统的药物不能完全治愈糖尿病。确定干预和预防糖尿病的其他危险因素至关重要。MTHFR基因多态性是糖尿病的一个新兴风险身分。最近的研究表明，MTHFR基因多态性在糖尿病的病理生理学中起着重要作用。包括炎症和胰岛素抵抗。本文综述了MTHER基因多态性与糖尿病的关系。
