亚甲基四氢叶酸还原酶C677T基因多态性、血浆同型半胱氨酸水平与遗忘型轻度认知功能障碍的关系  

Relationships of C677T Polymorphism of Methylenetetrahydrofolate Reductase and Plasma Homocysteine Levels to Amnestic Mild Cognitive Impairment

作　　者：李扬娜 曾红梅[1] 周璐[1] 马丽娜[1] 王思翔 LI Yang-na ZENG Hong-mei ZHOU Lu MA Li-na WANG Si-xiang(Department of Neurology the Second Affiliated Hospital of Nanchang University , Nangchang 330006 , Chin)

机构地区：[1]南昌大学第二附属医院神经内科,南昌330006

出　　处：《实用临床医学（江西）》2017年第3期1-3,10,共4页Practical Clinical Medicine

摘　　要：目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性及血浆同型半胱氨酸(Hcy)水平与遗忘型轻度认知功能障碍(aMCI)的相关性。方法取65例aMCI患者(aMCI组)、61例阿尔茨海默病(AD)患者(AD组)和63例同期体检健康的老年人(对照组)为研究对象,采用酶联免疫法测定血浆Hcy浓度,应用聚合酶链反应(PCR)技术检测MTHFR C677T基因型。结果 aMCI组及AD组Hcy浓度高于对照组(P<0.05);aMCI组及AD组的MTHFR基因的TT基因型、T等位基因分布频率明显高于对照组(P<0.05);aMCI组和AD组CT或TT基因型者,尤其TT型,血浆Hcy水平均明显高于无基因突变者即CC型(P<0.001)。结论 MTHFR基因C677T突变及高水平Hcy与认知功能损害的发生、发展有关,高Hcy血症是aMCI及AD发病的一个重要危险因素。bObjective To investigate the relationships of C677T polymorphism of methyle-netetrahydrofolate reductase （MTHFR ） and plasma homocysteine （ Hey） levels to amnestie mild cognitive impairment（aMCI） . Methods Plasma Hey levels were measured by ELISA and MTH -FR C677T genotypes were detected by PCR in 65 patients with aMCI,61 patients with Alzheimer disease（AD） and 63 healthy elderly eontrols. Results Compared with eontrol group the levels of plasma Hey and the distribution frequencies of TT genotype and T allele of MTHFR significantly increased in both aMCI and AD groups（P 〈0. 05） . Compared with patients with CC genotype , plasma Hey levels markedly increased in pati ents with TT or CT genotype in groups aMCI and AD （P 〈0. 001）. Conclusion MTHFR gene C677T mutation and high Hey levels are correlated with the occurrence and development of cognitive impairment. The hyperhomocysteinemia s an important risk factor for a MCI and AD .

关 键 词：遗忘型轻度认知功能障碍 阿尔茨海默病 基因多态性 亚甲基四氢叶酸还原酶 

分 类 号：R749.1[医药卫生—神经病学与精神病学]