神经管缺陷的遗传基础。II. 与叶酸和甲硫氨酸代谢相关的基因。

Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism.

作者信息

Gos Monika, Szpecht-Potocka Agnieszka

机构信息

The Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Department of Cell Biology, ul. Roentgena 5, 02-781 Warszawa, Poland.

出版信息

J Appl Genet. 2002;43(4):511-24.

PMID:12441636

Abstract

Effective supplementation with folate, which prevents neural tube defect (NTD) occurrence, and high homocysteine levels in the blood of NTD children's mothers suggest that genes involved in folate and homocysteine metabolism can be involved in NTD aetiology. Genes encoding methylenetetrahydrofolate reductase (MTHFR) or methylenetetrahydrofolate dehydrogenase (MTHFD) belong to the first group. Genes encoding methionine synthase (MTR), its regulator - methionine synthase reductase (MTRR) and also cystathionine synthase (CBS) can be included in the second group. We present a current list of the folate and homocysteine metabolism genes that are known to be involved in NTD and pay special attention to primary and secondary NTD prevention.

摘要

补充叶酸可有效预防神经管缺陷（NTD）的发生，且神经管缺陷患儿母亲血液中的高同型半胱氨酸水平表明，参与叶酸和同型半胱氨酸代谢的基因可能与神经管缺陷的病因有关。编码亚甲基四氢叶酸还原酶（MTHFR）或亚甲基四氢叶酸脱氢酶（MTHFD）的基因属于第一组。编码甲硫氨酸合酶（MTR）、其调节因子——甲硫氨酸合酶还原酶（MTRR）以及胱硫醚合酶（CBS）的基因可归入第二组。我们列出了目前已知与神经管缺陷相关的叶酸和同型半胱氨酸代谢基因清单，并特别关注神经管缺陷的一级和二级预防。