Folic Acid, Methylation and Neural Tube Closure in Humans

被引：94

作者：

Blom, Henk J. ^{[1
]}

机构：

[1] Free Univ Med Ctr Amsterdam, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

来源：

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY | 2009年 / 85卷 / 04期

关键词：

neural tube; CNS; PNS; human embryos; embryogenesis; METHIONINE SYNTHASE REDUCTASE; REDUCED FOLATE CARRIER; CYSTATHIONINE BETA-SYNTHASE; DEHYDROGENASE-METHENYLTETRAHYDROFOLATE-CYCLOHYDROLASE; HOMOCYSTEINE METHYLTRANSFERASE BHMT; GLUTAMATE CARBOXYPEPTIDASE-II; PERICONCEPTIONAL VITAMIN USE; GENE-GENE INTERACTION; RISK-FACTOR; METHYLENETETRAHYDROFOLATE REDUCTASE;

D O I：

10.1002/bdra.20581

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

This review provides a brief description of folate use and folic acid metabolism in relation to neural tube defect (NTD) risk. First, a meta-analysis of reduction in NTD recurrence and occurrence risk with periconceptional folic acid supplementation is presented. Second, an overview of the complex folate metabolism is given. Third, SNPs for genes involved in folate and homocysteine metabolism that have been studied in relation to NTD risk are discussed. Fourth, the questions whether folate receptor autoantibodies or hampered methylation are mechanisms underlying NTDs are briefly discussed. Birth Defects Research (Part A) 85:295302, 2009. (C) 2009 Wiley-Liss, Inc.

引用

页码：295 / 302

页数：8

共 130 条

[1] Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects [J].

Afman, LA ;

Lievers, KJA ;

van der Put, NMJ ;

Trijbels, FJM ;

Blom, HJ .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (07) :433-438

[2] Inhibition of transmethylation disturbs neurulation in chick embryos [J].

Afman, LA ;

Blom, HJ ;

Drittij, MJ ;

Brouns, MR ;

van Straaten, HW .

DEVELOPMENTAL BRAIN RESEARCH, 2005, 158 (1-2) :59-65

[3] Gene-gene interaction between the cystathionine β-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C>T polymorphism on homocysteine levels and risk for neural tube defects [J].

Afman, LA ;

Lievers, KJA ;

Kluijtmans, LAJ ;

Trijbels, FJM ;

Blom, HJ .

MOLECULAR GENETICS AND METABOLISM, 2003, 78 (03) :211-215

[4] The H475Y polymorphism in the glutamate carboxypeptidase II gene increases plasma folate without affecting the risk for neural tube defects in humans [J].

Afman, LA ;

Trijbels, FJM ;

Blom, HJ .

JOURNAL OF NUTRITION, 2003, 133 (01) :75-77

[5] Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect [J].

Al-Gazali, LI ;

Padmanabhan, R ;

Melnyk, S ;

Yi, P ;

Pogribny, IP ;

Pogribna, M ;

Bakir, M ;

Hamid, ZA ;

Abdulrazzaq, Y ;

Dawodu, A ;

James, SJ .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 103 (02) :128-132

[6]

[Anonymous], 1991, Lancet, V338, P131, DOI 10.1016/0140-6736(91)90133-A

[7] A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells [J].

Bagley, PJ ;

Selhub, J .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (22) :13217-13220

[8] The role of folate transport and metabolism in neural tube defect risk [J].

Barber, RC ;

Lammer, EJ ;

Shaw, GM ;

Greer, KA ;

Finnell, RH .

MOLECULAR GENETICS AND METABOLISM, 1999, 66 (01) :1-9

[9]

BECERRA JE, 1990, PEDIATRICS, V85, P1

[10] Spina bifida and parental occupation [J].

Blatter, BM ;

Roeleveld, N ;

Zielhuis, GA ;

Mullaart, RA ;

Gabreels, FJM .

EPIDEMIOLOGY, 1996, 7 (02) :188-193

← 1 2 3 4 5 6 7 8 9 10 →