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
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
收藏
页码:295 / 302
页数:8
相关论文
共 130 条
[71]   The two sites of fusion of the neural folds and the two neuropores in the human embryo [J].
O'Rahilly, R ;
Müller, F .
TERATOLOGY, 2002, 65 (04) :162-170
[72]   DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development [J].
Okano, M ;
Bell, DW ;
Haber, DA ;
Li, E .
CELL, 1999, 99 (03) :247-257
[73]   Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects [J].
Parle-McDermott, A ;
Mills, JL ;
Kirke, PN ;
O'Leary, VB ;
Swanson, DA ;
Pangilinan, F ;
Conley, M ;
Molloy, AM ;
Cox, C ;
Scott, JM ;
Bródy, LC .
JOURNAL OF HUMAN GENETICS, 2003, 48 (04) :190-193
[74]   Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population [J].
Parle-McDermott, Anne ;
Kirke, Peadar N. ;
Mills, James L. ;
Molloy, Anne M. ;
Cox, Christopher ;
O'Leary, Valerie B. ;
Pangilinan, Faith ;
Conley, Mary ;
Cleary, Laura ;
Brody, Lawrence C. ;
Scott, John M. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (06) :768-772
[75]   Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population [J].
Pei, LJ ;
Zhu, HP ;
Ren, AG ;
Li, ZW ;
Hao, L ;
Finnell, RH ;
Li, Z .
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2005, 73 (06) :430-433
[76]  
Pietrzyk JJ, 2003, J APPL GENET, V44, P111
[77]   776C > G polymorphism of the transcobalamin II gene as a risk factor for spina bifida [J].
Pietrzykl, JJ ;
Bik-Multanowski, M .
MOLECULAR GENETICS AND METABOLISM, 2003, 80 (03) :364-364
[78]   Folate and neural tube defects [J].
Pitkin, Roy M. .
AMERICAN JOURNAL OF CLINICAL NUTRITION, 2007, 85 (01) :285S-288S
[79]   Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption [J].
Qiu, Andong ;
Jansen, Michaela ;
Sakaris, Antoinette ;
Min, Sang Hee ;
Chattopadhyay, Shrikanta ;
Tsai, Eugenia ;
Sandoval, Claudio ;
Zhao, Rongbao ;
Akabas, Myles H. ;
Goldman, I. David .
CELL, 2006, 127 (05) :917-928
[80]   Spatial and temporal expression of the cystathionine β-synthase gene during early human development [J].
Quéré, I ;
Paul, V ;
Rouillac, C ;
Janbon, C ;
London, J ;
Demaille, J ;
Kamoun, P ;
Dufier, JL ;
Abitbol, M ;
Chassé, JF .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1999, 254 (01) :127-137