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Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):576-83. doi: 10.1002/bdra.23268. Epub 2014 Jul 1.

Mitochondrial one-carbon metabolism and neural tube defects.

Author information

1
Department of Molecular Biosciences, The University of Texas at Austin, Austin, Texas.

Abstract

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.

KEYWORDS:

folate; formate; maternal supplementation; neural tube defects; one-carbon metabolism

PMID:
24985542
DOI:
10.1002/bdra.23268
[Indexed for MEDLINE]

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