Physiology of folate and vitamin B12 in health and disease

Nutrition Reviews

Volumn 62, Issue 6 I, 2004, Pages S3-S12

  Stover, Patrick J ^a  

^a Department of Obstetrics Gynecology   (United States)

Author keywords

Folate; Fortification; Supplementation; Vitamin B12

Indexed keywords

BIOCHEMICAL MARKER; CYANOCOBALAMIN; FOLIC ACID; FOLIC ACID ANTAGONIST; HOMOCYSTEINE; METHIONINE; PURINE; THYMIDINE;

AMINO ACID SYNTHESIS; CANCER; CARDIOVASCULAR DISEASE; CONFERENCE PAPER; CONGENITAL MALFORMATION; CYANOCOBALAMIN DEFICIENCY; FOLIC ACID DEFICIENCY; FOOD FORTIFICATION; FOOD PROCESSING; GENETIC MARKER; HEALTH; HUMAN; NEURAL TUBE DEFECT; NONHUMAN; NUCLEOTIDE METABOLISM; PATHOLOGY; PHYSIOLOGY; PURINE SYNTHESIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; VITAMIN DEFICIENCY; VITAMIN INTAKE; VITAMIN METABOLISM; VITAMIN SUPPLEMENTATION;

EID: 3142774934     PISSN: 00296643     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1753-4887.2004.tb00070.x     Document Type: Conference Paper

References (103)

1. Wagner C. Biochemical role of folate in cellular metabolism. In: Bailey LB, ed. Folate in Health and Disease. New York: Marcel Dekker, Inc; 1995:23-42.
2. Kruschwitz HL, McDonald D, Cossins EA, Schirch V. 5- Formyltetrahydropteroylpolyglutamates are the major folate derivatives in Neurospora crassa conidiospores. J Biol Chem. 1994;269:28757-28763.
3. Lewis GP, Rowe PB. Oxidative and reductive cleavage of folates-a critical appraisal. Anal Biochem. 1979;93:91-97.
4. Maruyama T, Shiota T, Krumdieck CL. The oxidative cleavage of folates. A critical study. Anal Biochem. 1978;84:277-95.
5. Gregory JF III. The bioavailability of folate. In: Bailey LB, ed. Folate in Health and Disease. New York: Marcel Dekker, Inc; 1995.
6. Suh JR, Herbig AK, Stover PJ. New perspectives on folate catabolism. Annu Rev Nutr. 2001;21:255-282.
7. Gregory JF III. Case study: folate bioavailability. J Nutr. 2001;131:1376S-1382S.
8. Clarke S, Banfield K. S-adenosylmethionine-dependent methyltransferases. In: Carmel R, Jacobson DW, eds. Homocysteine in Health and Disease. Cambridge: Cambridge Press; 2001.
9. Shane B. Folate chemistry and metabolism. In: Bailey LB, ed. Folate in Health and Disease. New York: Marcel Dekker, Inc; 1995:1-22.
10. Moran RG. Roles of folylpoly-gamma-glutamate synthetase in therapeutics with tetrahydrofolate antimetabolites: an overview. Semin Oncol. 1999;26:24-32.
11. Antony AC. Folate receptors. Annu Rev Nutr. 1996;16:501-521.
12. Sirotnak FM, Tolner B. Carrier-mediated membrane transport of folates in mammalian cells. Annu Rev Nutr. 1999;19:91-122.
13. Kane MA, Elwood PC, Portillo RM, et al. Influence on immunoreactive folate-binding proteins of extracellular folate concentration in cultured human cells. J Clin Invest. 1988;81:1398-1406.
14. Zhao R, Russell RG, Wang Y, et al. Rescue of embryonic lethality in reduced folate carrier-deficient mice by maternal folic acid supplementation reveals early neonatal failure of hematopoletic organs. J Biol Chem. 2001;276:10224-10228.
15. Saitsu H, Ishibashi M, Nakano H, Shiota K. Spatial and temporal expression of folate-binding protein 1 (Fbpl) is closely associated with anterior neural tube closure in mice. Dev Dyn. 2003;226:112-117.
16. Finnell RH, Greer KA, Barber RC, Piedrahita JA. Neural tube and craniofacial defects with special emphasis on folate pathway genes. Crit Rev Oral Biol Med. 1998;9:38-53.
17. Henderson GB, Tsuji JM, Kumar HP. Mediated uptake of folate by a high-affinity binding protein in sublines of L1210 cells adapted to nanomolar concentrations of folate. J Membr Biol. 1988;101:247-258.
18. Jansen G, Westerhof GR, Jarmuszewski MJ, Kathmann I, Rijksen G, Schornagel JH. Methotrexate transport in variant human CCRF-CEM leukemia cells with elevated levels of the reduced folate carrier. Selective effect on carrier-mediated transport of physiological concentrations of reduced folates. J Biol Chem. 1990;265:18272-18277.
19. Kamen BA, Capdevila A. Receptor-mediated folate accumulation is regulated by the cellular folate content. Proc Natl Acad Sci U S A. 1986;83:5983-5987.
20. Matherly LH, Czajkowski CA, Angeles SM. Identification of a highly glycosylated methotrexate membrane carrier in K562 human erythroleukemia cells up-regulated for tetrahydrofolate cofactor and methotrexate transport. Cancer Res. 1991;51:3420-3426.
21. Titus SA, Moran RG. Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria. J Biol Chem. 2000;275:36811-36817.
22. Lin BF, Huang RF, Shane B. Regulation of folate and one-carbon metabolism in mammalian cells. III. Role of mitochondrial folylpoly-gamma-glutamate synthetase. J Biol Chem. 1993;268:21674-21679.
23. Lin BF, Shane B. Expression of Escherichia coli folylpolyglutamate synthetase in the Chinese hamster ovary cell mitochondrion. J Biol Chem. 1994;269:9705-9713.
24. Suh JR, Oppenheim EW, Girgis S, Stover PJ. Purification and properties of a folate-catabolizing enzyme. J Biol Chem. 2000;275:35646-35655.
25. Strong WB, Tendler SJ, Seither RL, Goldman ID, Schirch V. Purification and properties of serine hydroxymethyltransferase and C1-tetrahydrofolate synthase from L1210 cells. J Biol Chem. 1990;265:12149-12155.
26. Strong WB, Schirch V. In vitro conversion of formate to serine: effect of tetrahydropteroylpolyglutamates and serine hydroxymethyltransferase on the rate of 10-formyltetrahydrofolate synthetase. Biochemistry. 1989;28:9430-9439.
27. Richardson RE, Healy MJ, Nixon PF. Folates of rat tissue. Bioassay of tissue folylpolyglutamates and a relationship of liver folypolyglutamates to nutritional folate sufficiency. Biochim Biophys Acta. 1979;585:128-133.
28. Wittwer AJ, Wagner C. Identification of the folate-binding proteins of rat liver mitochondria as dimethylglycine dehydrogenase and sarcosine dehydrogenase. Flavoprotein nature and enzymatic properties of the purified proteins. J Biol Chem. 1981;256:4109-4115.
29. Yeo EJ, Briggs WT, Wagner C. Inhibition of glycine N-methyltransferase by 5-methyltetrahydrofolate pentaglutamate. J Biol Chem. 1999;274:37559-37564.
30. Scott KC, Gregory JF III. The fate of [3H]folic acid in folate adequate rats. J Nutr Biochm. 1996;7:261-269.
31. Eisenga BH, Collins TD, McMartin KE. Incorporation of 3H-label from folic acid is tissue-dependent in folate-deficient rats. J Nutr. 1992;122:977-985.
32. Kownacki-Brown PA, Wang C, Bailey LB, Toth JP, Gregory JF III. Urinary excretion of deuterium-labeled folate and the metabolite p-aminobenzoylglutamate in humans. J Nutr. 1993;123:1101-1108.
33. Geoghegan FL, McPartlin JM, Weir DG, Scott JM. Para- cetamidobenzoylglutamate is a suitable indicator of folate catabolism in rats. J Nutr. 1995;125:2563-2570.
34. Wang C, Song S, Bailey LB, Gregory JF III. Relationship between urinary excretion of p-aminobenyolyglutamate and folate statusin the growing rat. Nutr Res. 1994;14:875-884.
35. Gregory JF III, Williamson J, Liao JF, Bailey LB, Toth JP. Kinetic model of folate metabolism in nonpregnant women consuming [2H2]folic acid: isotopic labeling of urinary folate and the catabolite para-acetamidobenzoylglutamate indicates slow, intake-dependent turnover of folate pools. J Nutr. 1998;128:1896-1906.
36. Stites TE, Bailey LB, Scott KC, Toth JP, Fisher WP, Gregory JF III. Kinetic modeling of folate metabolism through use of chronic administration of deuterium-labeled folic acid in men. Am J Clin Nutr. 1997;65:53-60.
37. Kelly DA, Scott JM, Weir DG. Increased folate catabolism in mice with ascitic tumours. Clin Sci. 1983;65:303-305.
38. Kim YI. Folate and cancer prevention: a new medical application of folate beyond hyperhomocysteinemia and neural tube defects. Nutr Rev. 1999;57:314-321.
39. Scott JM, Weir DG. The methyl folate trap. A physiological response in man to prevent methyl group deficiency in kwashiorkor (methionine deficiency) and an explanation for folic-acid induced exacerbation of subacute combined degeneration in pernicious anaemia. Lancet. 1981;2:337-340.
40. Green JM, MacKenzie RE, Matthews RG. Substrate flux through methylenetetrahydrofolate dehydrogenase: predicted effects of the concentration of methylenetetrahydrofolate on its partitioning into pathways leading to nucleotide biosynthesis or methionine regeneration. Biochemistry. 1988;27:8014-8022.
41. Fell D, Seihub J. Disruption of thymidylate synthesis and glycine-serine interconversion by L-methionine and L-homocystine in Raji cells. Biochim Biophys Acta. 1990;1033:80-84.
42. Herbig K, Chiang EP, Lee LR, Hills J, Shane B, Stover PJ. Cytoplasmic serine hydroxymethyltransferase mediates competition between folate-dependent deoxyribonucleotide and S-adenosylmethionine biosyntheses. J Biol Chem. 2002;277:38381-38389.
43. Blount BC, Mack MM, Wehr CM, et al. Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage. Proc Natl Acad Sci USA. 1997;94:3290-3295.
44. Ames BN. Micronutrient deficiencies. A major cause of DNA damage. Ann NY Acad Sci. 1999;889:87-106.
45. Lindenbaum J, Allen RH. Clinical spectrum and diagnosis of folate deficiency. In: Bailey LB, ed. Folate in Health and Disease. New York: Marcel Dekker, Inc.; 1995.
46. O'Connor DL. Interaction of iron and folate during reproduction. Prog Food Nutr Sci. 1991;15:231-254.
47. Bailey LB, Gregory JF III. Folate metabolism and requirements. J Nutr. 1999;129:779-782.
48. Rozen R. Polymorphisms of folate and cobalamin metabolism., In: Carmel R, Jacobsen DW, eds. Homocysteine in Health and Disease. Cambridge: Cambridge University Press; 2001:259-270.
49. Carmel R, Karnaze DS. The deoxyuridine suppression test identifies subtle cobalamin deficiency in patients without typical megaloblastic anemia. JAMA. 1985;253:1284-1287.
50. Carmel R. Cobalamin deficiency. In: Carmel R, Jacobson DW, eds. Homocysteine in Health and Disease. Cambridge: Cambridge University Press; 2001:289-306.
51. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10:111-113.
52. Silaste ML, Rantala M, Sampi M, Alfthan G, Aro A, Kesaniemi YA. Polymorphisms of key enzymes in homocysteine metabolism affect diet responsiveness of plasma homocysteine in healthy women. J Nutr. 2001;131:2643-2647.
53. Ulvik A, Ueland PM. Single nucleotide polymorphism (SNP) genotyping in unprocessed whole blood and serum by real-time PCR: application to SNPs affecting homocysteine and folate metabolism. Clin Chem. 2001;47:2050-2053.
54. Rosen R. Genetic modulation of homocysteinemia. Semin Thromb Hemost. 2000;26:255-261.
55. Friso S, Choi SW, Girelli D, et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci U S A. 2002,99:5606-5611.
56. van der Put NM, Blom HJ. Neural tube defects and a disturbed folate dependent homocysteine metabolism. Eur J Obstet Gynecol Reprod Biol. 2000;92:57-61.
57. Scott JM. Evidence of folic acid and folate in the prevention of neural tube defects. Bibl Nutr Dieta. 2001;55:192-195.
58. Ueland PM, Refsum H, Beresford SA, Vollset SE. The controversy over homocysteine and cardiovascular risk. Am J Clin Nutr. 2000;72:324-332.
59. Gerhard GT, Duell PB. Homocysteine and atherosclerosis. Curr Opin Lipidol. 1999;10:417-428.
60. Ames BN. DNA damage from micronutrient deficiencies is likely to be a major cause of cancer. Mutat Res. 2001;475:7-20.
61. Choi SW, Mason JB. Folate and carcinogenesis: an integrated scheme. J Nutr. 2000;130:129-132.
62. Pogribny IP, Basnakian AG, Miller BJ, Lopatina NG, Poirier LA, James SJ. Breaks in genomic DNA and within the p53 gene are associated with hypomethylation in livers of folate/methyl-deficient rats. Cancer Res. 1995;55:1894-1901.
63. Bailey LB. Folate requirements and dietary recommendations. In: Bailey LB, ed. Folate in Health and Disease. New York: Marcel Dekker, Inc; 1995.
64. McNulty H. Folate requirements for health in different population groups. Br J Biomed Sci. 1995;52:110-119.
65. Scott JM. How does folic acid prevent neural tube defects? Nat Med. 1998;4:895-896.
66. Fleming A, Copp AJ. Embryonic folate metabolism and mouse neural tube defects. Science. 1998;280:2107-2109.
67. Friso S, Choi SW, Dolnikowski GG, Selhub J. A method to assess genomic DNA methylation using high-performance liquid chromatography/electrospray ionization mass spectrometry. Anal Chem. 2002;74:4526-4531.
68. Shields DC, Kirke PN, Mills JL, et al. 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. 1999;64:1045-1055.
69. Brody LC, Conley M, Cox C, et al. A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/ methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet. 2002;71:1207-1215.
70. Walzem RL, Clifford AJ. Folate deficiency in rats fed diets containing free amino acids or intact proteins. J Nutr. 1988;118:1089-1096.
71. Piedrahita JA, Oetama B, Bennett GD, et al. Mice lacking the folic acid-binding protein Folbpl are defective in early embryonic development. Nat Genet. 1999;23:228-232.
72. Spiegelstein O, Eudy JD, Finnell RH. Identification of two putative novel folate receptor genes in humans and mouse. Gene. 2000;258:117-125.
73. Zhao Q, Behringer RR, de Crombrugghe B. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cartl homeobox gene. Nat Genet. 1996;13:275-283.
74. Carter M, Ulrich S, Oofuji Y, Williams DA, Ross ME. Crooked tail (Cd) models human folate-responsive neural tube defects. Hum Mol Genet. 1999;8:2199-2204.
75. Shin JH, Shiota K. Folic acid supplementation of pregnant mice suppresses heat-induced neural tube defects in the offspring. J Nutr. 1999;129:2070-2073.
76. Christensen B, Arbour L, Tran P, et al. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet. 1999;84:151-157.
77. Essien FB, Wannberg SL. Methionine but not folinic acid or vitamin B-12 alters the frequency of neural tube defects in Axd mutant mice. J Nutr. 1993;123:27-34.
78. Gefrides LA, Bennett GD, Finnell RH. Effects of folate supplementation on the risk of spontaneous and induced neural tube defects in Splotch mice. Teratology. 2002;65:63-69.
79. Ma J, Stampfer MJ, Giovannucci E, et al. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res. 1997;57:1098-1102.
80. Branda RF, Blickensderfer DB. Folate deficiency increases genetic damage caused by alkylating agents and gamma-irradiation in Chinese hamster ovary cells. Cancer Res. 1993;53:5401-5408.
81. Melnyk S, Pogribna M, Miller BJ, Basnakian AG, Pogribny IP, James SJ. Uracil misincorporation, DNA strand breaks, and gene amplification are associated with tumorigenic cell transformation in folate deficient/repleted Chinese hamster ovary cells. Cancer Lett. 1999;146:35-44.
82. DePinho RA. The age of cancer. Nature. 2000;408:248-254.
83. Jackson-Grusby L, Beard C, Possemato R, et al. Loss of genomic methylation causes p53-dependent apoptosis and epigenetic deregulation. Nat Genet. 2001;27:31-39.
84. Zingg JM, Jones PA. Genetic and epigenetic aspects of DNA methylation on genome expression, evolution, mutation and carcinogenesis. Carcinogenesis. 1997;18:869-882.
85. Schmutte C, Yang AS, Nguyen TT, Beart RW, Jones PA. Mechanisms for the involvement of DNA methylation in colon carcinogenesis. Cancer Res. 1996;56:2375-2381.
86. Chen J, Giovannucci E, Kelsey K, et al. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res. 1996;56:4862-4864.
87. Slattery ML, Potter JD, Samowitz W, Schaffer D, Leppert M. Methylenetetrahydrofolate reductase, diet, and risk of colon cancer. Cancer Epidemiol Biomarkers Prev. 1999;8:513-518.
88. Honein MA, Paulozzi LJ, Mathews TJ, Erickson JD, Wong LY. Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects. JAMA. 2001;285:2981-2986.
89. Quinlivan EP, Gregory JF III. Effect of food fortification on folic acid intake in the United States. Am J Clin Nutr. 2003;77:221-225.
90. Lewis CJ, Crane NT, Wilson DB, Yetley EA. Estimated folate intakes: data updated to reflect food fortification, increased bioavailability, and dietary supplement use. Am J Clin Nutr. 1999;70:198-207.
91. Ryan BM, Weir DG. Relevance of folate metabolism in the pathogenesis of colorectal cancer. J Lab Clin Med. 2001;138:164-176.
92. Bailey LB, Gregory JF III. Polymorphisms of methylenetetrahydrofolate reductase and other enzymes: metabolic significance, risks and impact on folate requirement. J Nutr. 1999;129:919-922.
93. Reyes-Engel A, Munoz E, Gaitan MJ, Fabre E, Gallo M, Dieguez JL, et al. Implications on human fertility of the 677C-→T and 1298A→C polymorphisms of the MTHFR gene: consequences of a possible genetic selection. Mol Hum Reprod. 2002;8:952-957.
94. Pennisi E. Evo-Devo devotees eye ocular origins and more. Science. 2002;296:1010-1011.
95. Barbera JP, Rodriguez TA, Greene ND, et al. Folic acid prevents exencephaly in Cited2 deficient mice. Hum Mol Genet. 2002;11:283-293.
96. Windham GC, Shaw GM, Todoroff K, Swan SH. Miscarriage and use of multi-vitamins or folic acid. Am J Med Genet. 2000;90:261-262.
97. Hook EB, Czeizel AE. Can terathanasia explain the protective effect of folic-acid supplementation on birth defects? Lancet. 1997;350:513-515.
98. Hook EB. Folic acid: abortifacient or pseudoabortifacient? Am J Med Genet. 2000;92:301-302.
99. Nelen WL, Blom HJ, Steegers EA, den Heijer M, Eskes TK. Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis. Fertil Steril. 2000;74:1196-1199.
100. Nelen WL, Blom HJ, Steegers EA, den Heijer M, Thomas CM, Eskes TK. Homocysteine and folate levels as risk factors for recurrent early pregnancy loss. Obstet Gynecol. 2000;9:519-524.
101. Nelen WL, Blom HJ, Thomas CM, Steegers EA, Boers GH, Eskes TK. Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages. J Nutr. 1998;128:1336-1341.
102. Unfried G, Griesmacher A, Weismuller W, Nagele F, Huber JC, Tempfer CB. The C677T polymorphism of the methylenetetrahydrofolate reductase gene and idiopathic recurrent miscarriage. Obstet Gynecol. 2002;99:614-619.
103. Munoz-Moran E, Dieguez-Lucena JL, Fernandez-Arcas N, Peran-Mesa S, Reyes-Engel A. Genetic selection and folate intake during pregnancy. Lancet. 1998;352:1120-1121.