Insights into Metabolic Mechanisms Underlying Folate-Responsive Neural Tube Defects: A Minireview

被引:112
作者
Beaudin, Anna E. [1 ]
Stover, Patrick J. [1 ]
机构
[1] Cornell Univ, Div Nutr Sci, Ithaca, NY 14850 USA
关键词
folate; neural tube defect; metabolism; genetics; thymidylate; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; CYSTATHIONINE BETA-SYNTHASE; ONE-CARBON METABOLISM; THERMOLABILE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; METHYLENE TETRAHYDROFOLATE REDUCTASE; HOMOCYSTEINE METHYLTRANSFERASE BHMT; GLUTAMATE CARBOXYPEPTIDASE-II; FOLIC-ACID SUPPLEMENTATION; RAT-LIVER MITOCHONDRIA; SPINA-BIFIDA;
D O I
10.1002/bdra.20553
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Neural tube defects (NTDs), including anencephaly and spina bifida, arise from the failure of neurulation during early embryonic development. Neural tube defects are common birth defects with a heterogenous and multifactorial etiology with interacting genetic and environmental risk factors. Although the mechanisms resulting in failure of neural tube closure are unknown, up to 70% of NTDs can be prevented by maternal folic acid supplementation. However, the metabolic mechanisms underlying the association between folic acid and NTD pathogenesis have not been identified. This review summarizes our current understanding of the mechanisms by which impairments in folate metabolism might ultimately lead to failure of neural tube closure, with an emphasis on untangling the relative contributions of nutritional deficiency and genetic risk factors to NTD pathogenesis. Birth Defects Research (Part A) 85:274-284, 2009. (C) 2009 Wiley-Liss, Inc.
引用
收藏
页码:274 / 284
页数:11
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