一碳代谢、表观遗传学和叶酸相关疾病中的多态性。
Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies.
作者信息
Stover Patrick J
机构信息
Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA.
出版信息
J Nutrigenet Nutrigenomics. 2011;4(5):293-305. doi: 10.1159/000334586. Epub 2012 Feb 22.
Abstract
Folate-mediated 1-carbon metabolism is a network of interconnected metabolic pathways necessary for the synthesis of purine nucleotides, thymidylate and the remethylation of homocysteine to methionine. Disruptions in this pathway influence both DNA synthesis and stability and chromatin methylation, and result from nutritional deficiencies and common gene variants. The mechanisms underlying folate-associated pathologies and developmental anomalies have yet to be established. This review focuses on the relationships among folate-mediated 1-carbon metabolism, chromatin methylation and human disease, and the role of gene-nutrient interactions in modifying epigenetic processes.
摘要
叶酸介导的一碳代谢是一个由相互关联的代谢途径组成的网络，对于嘌呤核苷酸、胸苷酸的合成以及同型半胱氨酸再甲基化为甲硫氨酸而言必不可少。该途径的紊乱会影响DNA合成与稳定性以及染色质甲基化，其起因是营养缺乏和常见基因变异。叶酸相关病症和发育异常背后的机制尚未明确。本综述着重探讨叶酸介导的一碳代谢、染色质甲基化与人类疾病之间的关系，以及基因-营养相互作用在改变表观遗传过程中的作用。
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