scholarly journals Methionine synthase polymorphisms (MTR 2756 A>G and MTR 2758 C>G) frequencies and distribution in the Jordanian population and their correlation with neural tube defects in the population of the northern part of Jordan

2010 ◽  
Vol 16 (3) ◽  
pp. 138 ◽  
Author(s):  
HelmiYousif Al Farra
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methionine Synthase ◽  
Jordanian Population

scholarly journals Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects

2019 ◽  
Vol 109 (3) ◽  
pp. 674-683
Author(s):  
Ma'atem B Fofou-Caillierez ◽  
Rosa-Maria Guéant-Rodriguez ◽  
Jean-Marc Alberto ◽  
Céline Chéry ◽  
Thomas Josse ◽  
...  
Keyword(s):  
Cord Blood ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Intrinsic Factor ◽  
Methionine Synthase ◽  
Vitamin B ◽  
Transcriptional Level ◽  
Gene Variant ◽  
Methionine Synthase Reductase ◽  
Vitamin B 12

ABSTRACT Background The risk of neural tube defects (NTDs) is influenced by nutritional factors and genetic determinants of one-carbon metabolism. A key pathway of this metabolism is the vitamin B-12– and folate-dependent remethylation of homocysteine, which depends on methionine synthase (MS, encoded by MTR), methionine synthase reductase, and methylenetetrahydrofolate reductase. Methionine, the product of this pathway, is the direct precursor of S-adenosylmethionine (SAM), the universal methyl donor needed for epigenetic mechanisms. Objectives This study aimed to evaluate whether the availability of vitamin B-12 and folate and the expression or activity of the target enzymes of the remethylation pathway are involved in NTD risk. Methods We studied folate and vitamin B-12 concentrations and activity, expression, and gene variants of the 3 enzymes in liver from 14 NTD and 16 non-NTD fetuses. We replicated the main findings in cord blood from pregnancies of 41 NTD fetuses compared with 21 fetuses with polymalformations (metabolic and genetic findings) and 375 control pregnancies (genetic findings). Results The tissue concentration of vitamin B-12 (P = 0.003), but not folate, and the activity (P = 0.001), transcriptional level (P = 0.016), and protein expression (P = 0.003) of MS were decreased and the truncated inactive isoforms of MS were increased in NTD livers. SAM was significantly correlated with MS activity and vitamin B-12. A gene variant in exon 1 of GIF (Gastric Intrinsic Factor gene) was associated with a dramatic decrease of liver vitamin B-12 in 2 cases. We confirmed the decreased vitamin B-12 in cord blood from NTD pregnancies. A gene variant of GIF exon 3 was associated with NTD risk. Conclusions The decreased vitamin B-12 in liver and cord blood and decreased expression and activity of MS in liver point out the impaired remethylation pathway as hallmarks associated with NTD risk. We suggest evaluating vitamin B-12 in the nutritional recommendations for prevention of NTD risk beside folate fortification or supplementation.

scholarly journals Methionine synthase and neural tube defects.

1997 ◽  
Vol 34 (11) ◽  
pp. 958-958 ◽  
Author(s):  
K Morrison ◽  
Y H Edwards ◽  
S A Lynch ◽  
J Burn ◽  
F Hol ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methionine Synthase

Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans

2003 ◽  
Vol 344 (3) ◽  
pp. 189-192 ◽  
Author(s):  
R.M. Guéant-Rodriguez ◽  
C. Rendeli ◽  
B. Namour ◽  
L. Venuti ◽  
A. Romano ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methionine Synthase ◽  
Methionine Synthase Reductase

Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association

2005 ◽  
Vol 85 (3) ◽  
pp. 220-227 ◽  
Author(s):  
Valerie B. O’Leary ◽  
James L. Mills ◽  
Faith Pangilinan ◽  
Peadar N. Kirke ◽  
Christopher Cox ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methionine Synthase ◽  
Methionine Synthase Reductase ◽  
Risk Association

Methionine Synthase: High-Resolution Mapping of the Human Gene and Evaluation as a Candidate Locus for Neural Tube Defects

1999 ◽  
Vol 67 (4) ◽  
pp. 324-333 ◽  
Author(s):  
Lawrence C. Brody ◽  
Priscilla J. Baker ◽  
Peter S. Chines ◽  
Anjene Musick ◽  
Anne M. Molloy ◽  
...  
Keyword(s):  
High Resolution ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Human Gene ◽  
Methionine Synthase ◽  
Candidate Locus ◽  
High Resolution Mapping ◽  
Resolution Mapping
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