本文關(guān)鍵詞： 葉酸 亞甲基四氫葉酸還原酶 蛋氨酸合成酶還原酶 同型半胱氨酸 基因多態(tài)性 個(gè)體化補(bǔ)充　出處：《中國(guó)藥房》2017年17期 　論文類型：期刊論文

【摘要】：目的:了解葉酸代謝相關(guān)基因多態(tài)性與其個(gè)體化補(bǔ)充的研究進(jìn)展。方法:查閱近年來(lái)國(guó)內(nèi)外相關(guān)文獻(xiàn),就葉酸代謝通路的相關(guān)基因、葉酸與同型半胱氨酸(Hcy)的關(guān)系以及葉酸補(bǔ)充等方面的研究進(jìn)行歸納和總結(jié)。結(jié)果:葉酸代謝相關(guān)基因亞甲基四氫葉酸還原酶(MTHFR)C677T和蛋氨酸合成酶還原酶(MTRR)A66G與多種疾病的發(fā)生存在相關(guān)性。Hcy血漿濃度可作為衡量葉酸水平的標(biāo)準(zhǔn)。葉酸缺乏,妊娠期婦女會(huì)出現(xiàn)不良妊娠結(jié)局,同時(shí)導(dǎo)致胚胎時(shí)期的神經(jīng)管缺陷,出生后的腦病,成人期的缺血性腦卒中、癡呆、抑郁癥等神經(jīng)變性疾病和神經(jīng)精神疾病,甚至影響男性生殖能力;葉酸過(guò)量,會(huì)掩蓋因維生素B12缺乏引起的貧血和神經(jīng)系統(tǒng)障礙等,并降低體內(nèi)的自然殺傷細(xì)胞數(shù)量及機(jī)體免疫力。結(jié)論:葉酸代謝相關(guān)基因多態(tài)性導(dǎo)致葉酸血藥濃度水平差異較大。通過(guò)檢測(cè)患者葉酸代謝相關(guān)基因多態(tài)性以及葉酸和Hcy的水平,評(píng)估葉酸代謝能力,為患者制訂個(gè)體化的葉酸補(bǔ)充方案是未來(lái)臨床的必然發(fā)展趨勢(shì)。
[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.
【作者單位】： 昆明市第一人民醫(yī)院藥學(xué)部;大理大學(xué)藥學(xué)與化學(xué)學(xué)院;
【分類號(hào)】：R969
【正文快照】： 葉酸代謝酶亞甲基四氫葉酸還原酶(MTHFR)、蛋氨酸合成酶還原酶(MTRR)和蛋氨酸合成酶(MTR)的基因多態(tài)性是影響唇裂、唐氏綜合征等疾病發(fā)病的重要因素[1-2]。葉酸代謝基因與某些臨床不良事件存在一定的相關(guān)性,如不良妊娠事件(復(fù)發(fā)性流產(chǎn)、低體質(zhì)量患兒、早產(chǎn)兒和出生缺陷等)、癌

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