title: Mitochondrial one-carbon metabolism and neural tube defects.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Molecular Biosciences, The University of Texas at Austin, Austin, Texas.
authors.forename: Jessica
authors.initials: J
authors.lastname: Momb
authors.forename: Dean R
authors.initials: DR
authors.lastname: Appling
mesh_terms: D000619:Aminohydrolases / Q000235:genetics / Q000378:metabolism; D000818:Animals; D019587:Dietary Supplements; D005492:Folic Acid / Q000097:blood / Q000378:metabolism / Q000627:therapeutic use*; D005574:Formate-Tetrahydrofolate Ligase / Q000235:genetics / Q000378:metabolism; D005561:Formates / Q000494:pharmacology; D006801:Humans; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics / Q000378:metabolism; D051379:Mice; D015778:Minor Histocompatibility Antigens; D008928:Mitochondria / Q000201:enzymology* / Q000378:metabolism; D023421:Models, Animal; D009097:Multienzyme Complexes / Q000235:genetics / Q000378:metabolism; D054259:Neural Tube / Q000196:embryology* / Q000201:enzymology; D009436:Neural Tube Defects / Q000378:metabolism* / Q000517:prevention & control*
chemical_list: D005561:Formates; D015778:Minor Histocompatibility Antigens; D009097:Multienzyme Complexes; C030544:formic acid; C021836:formyl-methenyl-methylenetetrahydrofolate synthetase; D005492:Folic Acid; C539735:MTHFD1 protein, human; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP); D000619:Aminohydrolases; D005574:Formate-Tetrahydrofolate Ligase
keywords: folate; formate; maternal supplementation; neural tube defects; one-carbon metabolism