Mitochondrial one-carbon metabolism and neural tube defects

Background: Neural tube defects (NTDs) are one of the most common birth defects in humans. Maternal intake of folic acid was linked to prevention of NTDs in the 1970s. This realization led to the establishment of mandatory and/or voluntary food folic acid fortification programs in many countries tha...

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Published in:Birth defects research. A Clinical and molecular teratology 2014-08, Vol.100 (8), p.576-583
Main Authors: Momb, Jessica, Appling, Dean R.
Format: Article
Language:English
Subjects:
Aminohydrolases - genetics
Aminohydrolases - metabolism
Animals
Dietary Supplements
folate
Folic Acid - blood
Folic Acid - metabolism
Folic Acid - therapeutic use
formate
Formate-Tetrahydrofolate Ligase - genetics
Formate-Tetrahydrofolate Ligase - metabolism
Formates - pharmacology
Humans
maternal supplementation
Methylenetetrahydrofolate Dehydrogenase (NADP) - genetics
Methylenetetrahydrofolate Dehydrogenase (NADP) - metabolism
Mice
Minor Histocompatibility Antigens
Mitochondria - enzymology
Mitochondria - metabolism
Models, Animal
Multienzyme Complexes - genetics
Multienzyme Complexes - metabolism
Neural Tube - embryology
Neural Tube - enzymology
neural tube defects
Neural Tube Defects - metabolism
Neural Tube Defects - prevention & control
one-carbon metabolism
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Summary:Background: Neural tube defects (NTDs) are one of the most common birth defects in humans. Maternal intake of folic acid was linked to prevention of NTDs in the 1970s. This realization led to the establishment of mandatory and/or voluntary food folic acid fortification programs in many countries that have reduced the incidence of NTDs by up to 70% in humans. Despite 40 years of intensive research, the biochemical mechanisms underlying the protective effects of folic acid remain unknown. Results: Recent research reveals a role for mitochondrial folate‐dependent one‐carbon metabolism in neural tube closure. Conclusion: In this article, we review the evidence linking NTDs to aberrant mitochondrial one‐carbon metabolism in humans and mouse models. The potential of formate, a product of mitochondrial one‐carbon metabolism, to prevent NTDs is also discussed. Birth Defects Research (Part A) 100:576–583, 2014. © 2014 Wiley Periodicals, Inc.
ISSN:1542-0752
1542-0760
DOI:10.1002/bdra.23268