Hypothesis: Folate-responsive neural tube defects and neurocristopathies

Teratology

Volumn 62, Issue 1, 2000, Pages 42-50

  Antony, Aśok C ^a,b   Hansen, Deborah K ^c  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RICHARD L ROUDEBUSH VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c NATIONAL CENTER FOR TOXICOLOGICAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FOLIC ACID;

ARTICLE; CELL PROLIFERATION; DIET SUPPLEMENTATION; EMBRYO DEVELOPMENT; FOLIC ACID DEFICIENCY; HUMAN; NEURAL CREST; NEURAL TUBE DEFECT; PLACENTA DEVELOPMENT; PLACENTAL TRANSFER; PRIORITY JOURNAL;

ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CELL DIVISION; DNA, ANTISENSE; FEMALE; FOLIC ACID; FOLIC ACID DEFICIENCY; HUMANS; INFANT, NEWBORN; MICE; MICE, KNOCKOUT; MODELS, NEUROLOGICAL; NEURAL CREST; NEURAL TUBE DEFECTS; PREGNANCY; RECEPTORS, CELL SURFACE;

MURINAE;

EID: 0033938448     PISSN: 00403709     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-9926(200007)62:1<42::AID-TERA9>3.0.CO;2-U     Document Type: Article

References (70)

1. Allen RH, Stabler SP, Savage DC, Lindenbaum J. 1993. Metabolic abnormalities in cobalamin (vitamin B12) and folate deficiency. FASEB J 7:1344-1353.
2. Antony AC. 1992. The biological chemistry of folate receptors. Blood 79:2807-2820.
3. Antony AC. 2000. Megaloblastic anemias. In: Hoffman R, Benz EJ Jr, Shattil SJ, Furie B, Cohen HJ, Silberstein LE, McGlave P, editors. Hematology. Basic principles and practice. 3rd ed. New York: Churchill Livingstone. p 446-485
4. Antony AC. 1996. Folate receptors. Annu Rev Nutr 16:501-521.
5. Antony AC, Utley C, Van Horne KC, Kolhouse JF. 1981. Isolation and characterization of a folate receptor from human placenta. J Biol Chem 256:9684-9692.
6. Antony AC, Kane MA, Krishnan SR, Kincade RS, Verma RS. 1989. Folate (pteroylglutamate) uptake in human red blood cells, erythroid precursors and KB cells at high extracellular folate concentrations. Evidence against a role for specific folate-binding and transport proteins. Biochem J 260:401-411.
7. Barber RC, Shaw GM, Lammer EJ, Greer KA, Biela TA, Lacey SW, Wasserman CR, Finnell RH. 1998. Lack of association between mutations in the folate receptor-alpha gene and spina bifida [published erratum appears in Am J Med Genet 1998 Sep 23;79(3):231]. Am J Med Genet 76:310-317.
8. Barber RC, Bennett GD, Greer KA, Finnell RH. 1999. Expression patterns of folate binding proteins one and two in the developing mouse embryo. Mol Genet Metab 66:31-39.
9. Baumslag N, Edelstein T, Metz J. 1970. Reduction of incidence of prematurity by folic acid supplementation in pregnancy. BMJ 1:16-17.
10. Boduroglu K, Alikasifoglu M, Anar B, Tuncbilek E. 1999. Association of the 677 C6T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects. J Child Neurol 14:159-161.
11. Bolande RP. 1997. Neurocristopathy: its growth and development in 20 years [review]. Pediatr Pathol Lab Med 17:1-25.
12. Bolton JA, Wood SA, Kennedy D, Don RH, Mattick JS. 1999. Retinoic acid-dependent upregulation of mouse folate receptor-alpha expression in embryonic stem cells, and conservation of alternative splicing patterns. Gene 230:215-224.
13. Botto LD, Khoury MJ, Mulinare J, Erickson JD. 1996. Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study. Pediatrics 98:911-917.
14. Brigle KE, Westin EH, Houghton MT, Goldman ID. 1991. Characterization of two cDNAs encoding folate-binding proteins from L1210 murine leukemia cells. Increased expression associated with a genomic rearrangement. J Biol Chem 266:17243-17249.
15. Christensen B, Arbour L, Tran P, Leclerc D, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R. 1999. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet 84:151-157.
16. Czeizel A. 1993a. Periconceptional multivitamin supplementation and nonneural midline defects [letter; comment]. Am J Med Genet 46:611.
17. Czeizel AE. 1993b. Prevention of congenital abnormalities by periconceptional multivitamin supplementation. BMJ 306:1645-1648.
18. Czeizel AE. 1995a. Folic acid in the prevention of neural tube defects. J Pediatr Gastroenterol Nutr 20:4-16.
19. Czeizel AE. 1995b. Limb-reduction defects and folic acid supplementation [letter]. Lancet 345:932.
20. Czeizel AE. 1996. Folic acid and prevention of birth defects [letter; comment]. JAMA 275:1635-1636.
21. Czeizel AE. 1998. Periconceptional folic acid containing multivitamin supplementation. Eur J Obstet Gynecol Reprod Biol 78:151-161.
22. Czeizel AE, Dudas L. 1992. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835.
23. Czeizel AE, Toth M, Rockenbauer M. 1996. Population-based case control study of folic acid supplementation during pregnancy. Teratology 53:345-351.
24. De Franchis R, Sebastio G, Mandata C, Andria G, Mastroiacovo P. 1995. Spina bifida, 677C→T mutation, and role of folate [letter]. Lancet 346:1703.
25. Finnell RH, Greer KA, Barber RC, Piedrahita JA. 1998. Neural tube and craniofacial defects with special emphasis on folate pathway genes. Crit Rev Oral Biol Med 9:38-53.
26. Fleming A, Copp A. 1998. Embryonic folate metabolism and mouse neural tube defects. Science 280:2107-2109.
27. Goddijn-Wessel TA, Wouters MC, van de Molen EF, Spuijbroek MD, Steegers-Theunissen RP, Blom HJ, Boers CH, Eskes TK. 1996. Hyperhomocysteinemia: a risk factor for placental abruption or infarction. Eur J Obstet Gynecol Reprod Biol 66:23-29.
28. Hansen DK, Grafton TF, Streck RD. 1999. Modulation of folate receptor expression in vitro by antisense oligonucleotides produces neural tube defects in mouse embryos [abstract]. Teratology 59:385.
29. Heil SG, van der Put NM, Trijbels FJ, Gabreels FJ, Blom HJ. 1999. Molecular genetic analysis of human folate receptors in neural tube defects. Eur J Hum Genet 7:393-396.
30. Henderson GI, Perez T, Schenker S, Mackins I, Antony AC. 1995. Maternal-to-fetal transfer of 5-methyltetrahydrofolate by the perfused human placental cotyledon: evidence for a concentrative role by placental folate receptors in fetal folate delivery. J Lab Clin Med 126:184-203.
31. Iyengar L, Rajalakshmi K. 1975. Effect of folic acid supplement on birth weights of infants. Am J Obstet Gynecol 122:332-336.
32. Jones MC. 1990. The neurocristopathies: reinterpretation based upon the mechanism of abnormal morphogenesis. Cleft Palate J 27:136-140.
33. Koch MC, Stegmann K, Zielger A, Schroter B, Ermert A. 1998. Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population. Eur J Pediatr 157:487-492.
34. Kolhouse JF, Stabler SP, Allen RH. 1993. Identification and perturbation of mutant human fibroblasts based on measurements of methylmalonic acid and total homocysteine in the culture media. Arch Biochem Biophys 303:355-360.
35. Koury MI, Horne DW. 1994. Apoptosis mediates and thymidine prevents erythroblast destruction in folate deficiency anemia. Proc Natl Acad Sci USA 91:4067-4071.
36. Li D-K, Daling JR, Mueller BA, Hickok DE, Fantel AG, Weiss NS. 1995. Periconceptional multivitamin use in relation to the risk of congenital urinary tract anomalies. Epidemiology 6:212-218.
37. Milunsky A. 1996. Congenital defects, folic-acid, and homeobox genes. Lancet 348:419-420.
38. Molloy AM, Mills JL, Kirke PN, Ramsbottom D, McPartlin JM, Burke H, Conley M Whitehead AS, Weir DG, Scott JM. 1998. Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor. Am J Med Genet 78:155-159.
39. Mornet E, Muller F, Lenvoise-Furet A, Delezoide A-L, Col J-Y, Simon-Bouy B, Serre J-L. 1997. Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects. Hum Genet 100:512-514.
40. MRC Vitamin Study Research Group. 1991. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338:131-137.
41. Ou CY, Stevenson RE, Brown VK, Schwartz CE, Allen WP, Khoury MJ, Rozen R, Oakley GP Jr, Adams MJ Jr. 1996. 5,10-Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 63:610-614.
42. Piedrahita JA, Oetama B, Bennett GD, van Waes J, Kamen BA, Richardson J, Lacey SW, Anderson RGW, Finnell RH. 1999. Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development. Nature Genet 23:228-232.
43. Posey DL, Khoury MJ, Mulinare J, Adams MJ Jr, Ou CY. 1996. Is mutated MTHFR a risk factor for neural tube defects [letter]? Lancet 347:686-687.
44. Prasad PD, Ramamoorthy S, Moe AJ, Smith CH, Leibach FH, Ganapathy V. 1994. Selective expression of the high-affinity isoform of the folate receptor (FR-alpha) in the human placental syncytiotrophoblast and choriocarcinoma cells. Biochim Biophys Acta 1223:71-75.
45. Rosenquist TH, Ratashak SA, Selhub J. 1996. Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc Natl Acad Sci USA 93:15227-15232.
46. Sakanashi TM, Rogers JM, Fu SS, Connelly LE, Keen CL. 1996. Influence of maternal folate status on the developmental toxicity of methanol in the CD-1 mouse. Teratology 54:198-206.
47. Scanlon KS, Ferencz C, Loffredo CA, Wilson PD, Correa-Villasenor A, Khoury MJ, Willett WC, the Baltimore-Washington Infant Study Group. 1998. Preconceptional folate intake and malformations of the cardiac outflow tract. Epidemiology 9:95-98.
48. Shaw GM, Lammer EJ, Wasserman CR, O'Malley CD, Tolarova MM. 1995a. Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally. Lancet 346: 393-396.
49. Shaw GM, O'Malley CD, Wasserman CR, Tolarova MM, Lammer EJ. 1995b. Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. Am J Med Genet 59:536-545.
50. Shaw GM, Rozen R, Finnell RH, Wasserman CR, Lammer EJ. 1998. Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. Am J Epidemiol 148:30-37.
51. Shields DC, Kirke PN, Mills JL, Ramsbottom D, Molloy AM, Burke H, Weir DG, Scott JM, Whitehead AS. 1999. The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: an evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am J Hum Genet 64:1045-1055.
52. Speer MC, Worley G, Mackey JF, Melvin E, Oakes WJ, George TM, the NTD Collaborative Group. 1997. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. Neurogenetics 1:149-150.
53. Steegers-Theunissen RP, Boers CH, Trijbels FJ, Finkelstein JD, Blom HJ, Thomas CM, Borm CF, Wouters MC, Eskes TK. 1994. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metab Clin Exp 43:1475-1480.
54. Sun XL, Antony AC. 1996. Evidence that a specific interaction between an 18-base cis-element in the 5′-untranslated region of human folate receptor-alpha mRNA and a 46-kDa cytosolic transfactor is critical for translation. J Biol Chem 271:25539-25547.
55. Sun XL, Murphy BR, Li QJ, Gullapalli S, Mackins J, Jayaram HN, Srivastava A, Antony AC. 1995. Transduction of folate receptor cDNA into cervical carcinoma cells using recombinant adeno-associated virions delays cell proliferation in vitro and in vivo. J Clin Invest 96:1535-1547.
56. Tolarova M. 1982. Periconceptional supplementation with vitamins and folic acid to prevent recurrence of cleft lip [letter]. Lancet 2:217.
57. Tolarova M. 1987. Orofacial clefts in Czechoslovakia. Incidence, genetics and prevention of cleft lip and palate over a 19-year period. Scand J Plast Reconstr Surg Hand Surg 21:19-25.
58. Tolarova M, Harris J. 1995. Reduced recurrence of orofacial clefts after periconceptional supplementation with high-dose folic acid and multivitamins. Teratology 51:71-78.
59. Trembath Y, Sherbondy A, VanDyke D, Finnell R, Marker S, Lerner G, Murray JC. 1998. A novel mutation in 5,10-methylenetetrahydrofolate reductase associated with neural tube defects in an Iowa population [abstract]. Teratology 57:192.
60. Ubbink JB, Christianson A, Bester MJ, Van Allen MI, Venter PA, Delport R, Blom HJ, van der Merwe A, Potgieter H, Hayward Vermaak WJ. 1999. Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural South African blacks with a history of pregnancy complicated by neural tube defects. Metabolism 48:269-274.
61. van Aerts LAGJM, Blom HJ, Deabreu RA, Trijbels FJM, Eskes TKAB, Copius Peereboom-Stegeman JHJ, Noordhoek J. 1994. Prevention of neural tube defects by and toxicity of L-homocysteine in cultured postimplantation rat embryos. Teratology 50:348-360.
62. van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ. 1995. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071.
63. van der Put NMJ, van den Heuvel LP, Steegers-Theunissen RPM, Trijbels FJM, Eskes TKAB, Mariman ECM, den Heyer M, Blom HJ. 1996. Decreased methylene tetrahydrofolate reductase activity due to the 677C→T mutation in families with spina bifida offspring. J Mol Med 74:691-694.
64. van der Put NMJ, Eskes TKAB, Blom HJ. 1997. Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. Q J Med 90:111-115.
65. van der Put NMJ, Gabreels F, Stevens EMB, Smeitink JAM, Trijbels FJM, Eskes TKAB, van den Heuvel LP, Blom HJ. 1998. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 62:1044-1051.
66. Verma RS, Gullapalli S, Antony AC. 1992. Evidence that the hydrophobicity of isolated, in situ, and de novo-synthesized native human placental folate receptors is a function of glycosyl-phosphatidylinositol anchoring to membranes. J Biol Chem 267:4119-4127.
67. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. 1998. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 64:169-172.
68. Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, Weir DC, Shields DC, Scott JM. 1995. A genetic defect in 5,10-methylenetetrahydrofolate reductase in neural tube defects. Q J Med 88:763-766.
69. Wouters MG, Boers GH, Blom HJ, Trijbels FJ, Thomas CM, Borm GF, Steegers-Theunissen RP, Eskes TK. 1993. Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertil Steril 60:820-825.
70. Zhao Q, Behringer RR, de Crombrugghe B. 1996. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. Nature Genet 13:275-283.