孤独症谱系障碍与叶酸代谢的研究进展

摘要

叶酸在人体内作为重要的辅因子参与一碳代谢,同时在嘌呤核苷酸和嘧啶核苷酸的合成和转化过程中起着重要作用.孤独症谱系障碍(autism spectrum disorder,ASD)是一类病因未明的神经系统发育障碍,发病机制复杂,患者主要表现为社交障碍和重复、刻板行为.叶酸代谢过程中相应酶的功能缺失、叶酸转运障碍以及相关的遗传变异都与ASD的发病风险增加有关.多项研究表明,ASD患者人群中可能存在一种亚型,因患者体内存在α型叶酸受体自身抗体而导致脑脊液中5-甲基四氢叶酸含量低于正常水平,使患者表现出相应的症状.在这种情况下,患者可以通过口服5-甲酰四氢叶酸(又称亚叶酸)使得疾病症状明显改善.本文主要就叶酸代谢过程中与ASD发病机制及治疗相关的研究进行综述.%Folate acts as a co-factor in one carbon metabolism,playing an essential role in the synthesis and transformation of purine and pyrimidine precursors of nucleic acids simultaneously. Autism spectrum disorder ( ASD) is a neurodevelopmental disorder with unknown pathogenesis characterized by social defects and repeti-tive behaviors. The risk of ASD is associated with the functional disorders of the enzyme related to the folate me-tabolism,the disorder of folate transportation,and the genetic variation related to the folate metabolism. Several studies indicated that there might be a subtype in patients with ASD whose 5-methyltetrahydrofolate in cerebro-spinal fluid( CSF) was low,however,the level of folate outside the central nervous system was normal,which re-sulted from the exist of the folate receptor alpha autoantibodies. The children with ASD found positive for the fo-late receptor alpha autoantibodies were improved a lot when taking folinic acid or leucovorin calcium orally. This article reviewed the correlation between folate metabolism and the pathogenesis and treatment of the ASD.