Neural tube defects induced by folate deficiency in mutant Curly tail (Grhl3) embryos are associated with alteration in folate one-carbon metabolism but are unlikely to result from diminished methylation

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 88, Issue 8, 2010, Pages 612-618

  De Castro, Sandra C P ^a   Leung, Kit Yi ^a   Savery, Dawn ^a   Burren, Katie ^a   Rozen, Rima ^b   Copp, Andrew J ^a   Greene, Nicholas D E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

Curly tail; Folate; Inositol; Methylation; Neural tube defects

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); DEOXYURIDINE; FOLIC ACID; GRAINYHEAD LIKE3 PROTEIN; INOSITOL DERIVATIVE; PROTEIN; S ADENOSYLHOMOCYSTEINE; S ADENOSYLMETHIONINE; THYMIDINE; THYMIDINE PHOSPHATE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; BIOSYNTHESIS; CARBON METABOLISM; EMBRYO; FEMALE; FIBROBLAST; FOLIC ACID DEFICIENCY; GENE EXPRESSION; GENE INTERACTION; GENE LOCUS; LIQUID CHROMATOGRAPHY; MALE; MOUSE; MOUSE STRAIN; MUTANT; NEURAL TUBE DEFECT; NONHUMAN; NULL ALLELE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RNA METHYLATION; TANDEM MASS SPECTROMETRY;

ANIMALS; CARBON; DNA-BINDING PROTEINS; FEMALE; FIBROBLASTS; FOLIC ACID; FOLIC ACID DEFICIENCY; METHYLATION; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MICE; MICE, MUTANT STRAINS; NEURAL TUBE DEFECTS; PREGNANCY; S-ADENOSYLHOMOCYSTEINE; S-ADENOSYLMETHIONINE; THYMIDINE MONOPHOSPHATE; TRANSCRIPTION FACTORS;

EID: 77955614388     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20690     Document Type: Article

References (39)

1. Afman LA, Blom HJ, Drittij MJ, et al. 2005. Inhibition of transmethylation disturbs neurulation in chick embryos. Brain Res Dev Brain Res 158:59-65.
2. Amorim MR, Lima MA, Castilla EE, et al. 2007. Non-Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C > T: a meta-analysis. Am J Med Genet A 143:1726-1732.
3. Blom HJ, Shaw GM, Den Heijer M, et al. 2006. Neural tube defects and folate: case far from closed. Nat Rev Neurosci 7:724-731.
4. Burgoon JM, Selhub J, Nadeau M, et al. 2002. Investigation of the effects of folate deficiency on embryonic development through the establishment of a folate deficient mouse model. Teratology 65:219-227.
5. Burren KA, Mills K, Copp AJ, et al. 2006. Quantitative analysis of s-adenosylmethionine and s-adenosylhomocysteine in neurulation-stage mouse embryos by liquid chromatography tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 844:112-118.
6. Burren KA, Savery D, Massa V, et al. 2008. Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function. Hum Mol Genet 17:3675-3685.
7. Burren KA, Scott JM, Copp AJ, et al. 2010. The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly. Birth Defects Res A Clin Mol Teratol 88:76-83.
8. Carter M, Ulrich S, Oofuji Y et al. 1999. Crooked tail (Cd) models human folate-responsive neural tube defects. Hum Mol Genet 8:2199-2204.
9. Chen ZT, Karaplis AC, Ackerman SL, et al. 2001. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet 10:433-443.
10. Copp AJ, Greene NDE. 2010. Genetics and development of neural tube defects. J Pathol 220:217-230.
11. Daly LE, Kirke PN, Molloy A, et al. 1995. Folate levels and neural tube defects: implications for prevention. JAMA 274:1698-1702.
12. Dunlevy LPE, Burren KA, Chitty LS, et al. 2006a. Excess methionine suppresses the methylation cycle and inhibits neural tube closure in mouse embryos. FEBS Lett 580:2803-2807.
13. Dunlevy LPE, Burren KA, Mills K, et al. 2006b. Integrity of the methylation cycle is essential for mammalian neural tube closure. Birth Defects Res A Clin Mol Teratol 76:544-552.
14. Dunlevy LPE, Chitty LS, Doudney K, et al. 2007. Abnormal folate metabolism in foetuses affected by neural tube defects. Brain 130:1043-1049.
15. Fisher MC, Zeisel SH, Mar MH, et al. 2002. Perturbations in choline metabolism cause neural tube defects in mouse embryos in vitro. FASEB J 16:619-621.
16. Fleming A, Copp AJ. 1998. Embryonic folate metabolism and mouse neural tube defects. Science 280:2107-2109.
17. Greene NDE, Stanier P, Copp AJ., et al. 2009. Genetics of human neural tube defects. Hum Mol Genet 18:R113-R129.
18. Gueant-Rodriguez RM, Rendeli C, Namour B, et al. 2003. Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett 344:189-192.
19. Gustavsson P, Greene ND, Lad D, et al. 2007. Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model. Hum Mol Genet 16:2640-2646.
20. Harris MJ. 2008. Insights into prevention of human neural tube defects by folic acid arising from consideration of mouse mutants. Birth Defects Res A Clin Mol Teratol 85:331-339.
21. Heid MK, Bills ND, Hinrichs SH, et al. 1992. Folate deficiency alone does not produce neural tube defects in mice. J Nutr 122:888-894.
22. Li D, Pickell L, Liu Y, et al. 2005. Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice. Am J Clin Nutr 82:188-195.
23. Li D, Pickell L, Liu Y, et al. 2006. Impact of methylenetetrahydrofolate reductase deficiency and low dietary folate on the development of neural tube defects in splotch mice. Birth Defects Res A Clin Mol Teratol 76:55-59.
24. Martinez-Barbera JP, Rodriguez TA, Greene NDE, et al. 2002. Folic acid prevents exencephaly in Cited2 deficient mice. Hum Mol Genet 11:283-293.
25. Molloy AM, Brody LC, Mills JL, et al. 2009. The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects. Birth Defects Res A Clin Mol Teratol 85:285-294.
26. Nijhout HF, Reed MC, Lam SL, et al. 2006. In silico experimentation with a model of hepatic mitochondrial folate metabolism. Theor Biol Med Model 3:40.
27. Pickell L, Li D, Brown K, et al. 2009. Methylenetetrahydrofolate reductase deficiency and low dietary folate increase embryonic delay and placental abnormalities in mice. Birth Defects Res A Clin Mol Teratol 85:531-541.
28. Piedrahita JA, Oetama B, Bennett GD, et al. 1999. Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development. Nat Genet 23:228-232.
29. Schwahn BC, Chen ZT, Laryea MD et al. 2003. Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. FASEB J 17:163-187.
30. Seller MJ. 1994. Vitamins, folic acid and the cause and prevention of neural tube defects. In: Bock G, Marsh J, editors.Neural tube defects (Ciba Foundation Symposium 181). Chichester, UK: John Wiley & Sons. pp.161-173.
31. Shaw GM, Finnell RH, Blom HJ, et al. 2009. Choline and risk of neural tube defects in a folate-fortified population. Epidemiology 20:714-719.
32. Shaw GM, Schaffer D, Velie EM, et al. 1995. Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects. Epidemiology 6:219-226.
33. Spiegelstein O, Mitchell LE, Merriweather MY, et al. 2004. Embryonic development of folate binding protein-1 (Folbp1) knockout mice: effects of the chemical form, dose, and timing of maternal folate supplementation. Dev Dyn 231:221-231.
34. Ting SB, Wilanowski T, Auden A, et al. 2003. Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl- 3. Nat Med 9:1513-1519.
35. Tran P, Hiou-Tim F, Frosst P, et al. 2002. The curly-tail (ct) mouse, an animal model of neural tube defects, displays altered homocysteine metabolism without folate responsiveness or a defect in Mthfr. Mol Genet Metab 76:297-304.
36. Van Straaten HWM, Copp AJ. 2001. Curly tail: a 50-year history of the mouse spina bifida model. Anat Embryol 203:225-237.
37. Wlodarczyk BJ, Tang LS, Triplett A, et al. 2006. Spontaneous neural tube defects in splotch mice supplemented with selected micronutrients. Toxicol Appl Pharmacol 213:55-63.
38. Yu Z, Lin KK, Bhandari A, et al. 2006. The Grainyhead-like epithelial transactivator Get-1/Grhl3 regulates epidermal terminal differentiation and interacts functionally with LMO4. Dev Biol 299:122-136.
39. Zhu H, Wicker NJ, Shaw GM, et al. 2003. Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol Genet Metab 78:216-221.