Folate, Homocysteine and Neural Tube Defects: An Overview

@article{Put2001FolateHA,
  title={Folate, Homocysteine and Neural Tube Defects: An Overview},
  author={N. V. D. van der Put and H. V. van Straaten and F. Trijbels and H. Blom},
  journal={Experimental Biology and Medicine},
  year={2001},
  volume={226},
  pages={243 - 270}
}
Folate administration substantially reduces the risk on neural tube defects (NTD). The interest for studying a disturbed homocysteine (Hcy) metabolism in relation to NTD was raised by the observation of elevated blood Hcy levels in mothers of a NTD child. This observation resulted in the examination of enzymes involved in the folate-dependent Hcy metabolism. Thus far, this has led to the identification of the first and likely a second genetic risk factor for NTD. The C677T and A1298C mutations… Expand
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TLDR
This metabolic profile is consistent with reduced methylation capacity and increased oxidative stress in women with affected pregnancies, and may contribute to the occurrence of NTDs. Expand
Folate and homocysteine interrelationships including genetics of the relevant enzymes
  • A. Molloy
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TLDR
Current research into the genetic components of folate and homocysteine variability is paving the way towards an eventual capacity to ensure optimal folate status in every individual and, consequently, to reduce their risk of developing such diseases. Expand
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TLDR
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Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects.
TLDR
MTHFR gene mutations may affect vitamin B12 and homocysteine metabolism in Brazilian children with NTDs and they were similar to that found in controls. Expand
Folate and Homocysteine metabolism in Indian children withDown syndrome.
TLDR
The aim of the study was to estimate the plasma levels of folate and homocysteine and compare it with age and sex matched healthy controls and showed a significant decrease in Hcy levels in DS. Expand
The complex relationship between folate/homocysteine metabolism and risk of Down syndrome.
TLDR
Overall, both in vitro and in vivo studies indicate that an impaired folate/homocysteine metabolism can result in chromosome 21 nondisjunction; however, the birth of a DS child seems to be the result of the interplay of several factors of genetic, epigenetic, environmental, and stochastic origin, making it difficult to discriminate the single contribution of each of them. Expand
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