Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency

Journal of Inherited Metabolic Disease

Volumn 31, Issue 3, 2008, Pages 403-411

  Li, D ^a   Karp, N ^a   Wu, Q ^a   Wang, X L ^a   Melnyk, S ^b   James, S J ^b   Rozen, Rima ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BODY WEIGHT; CEREBELLUM; CONTROLLED STUDY; DIET SUPPLEMENTATION; DISEASE MODEL; DISEASE SEVERITY; FEMALE; HISTOPATHOLOGY; HYPERHOMOCYSTEINEMIA; INBORN ERROR OF METABOLISM; LACTATION; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MOUSE; NEWBORN MONITORING; NEWBORN MORTALITY; NONHUMAN; PERINATAL PERIOD; POSTNATAL GROWTH; PREGNANCY; SURVIVAL RATE;

ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; FEMALE; FOLIC ACID; GENOTYPE; HOMOCYSTEINE; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MICE; MICE, INBRED BALB C; SURVIVAL RATE; TETRAHYDROFOLATES;

EID: 45849109093     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0645-z     Document Type: Article

References (20)

1. Chen Z, 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.
2. Durand P, Fortin LJ, Lussier-Cacan S, Davignon J, Blache D (1996) Hyperhomocysteinemia induced by folic acid deficiency and methionine load - applications of a modified HPLC method. Clin Chim Acta 252: 83-93.
3. Frosst P, Blom HJ, Milos R, et al (1995) A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 10: 111-113.
4. Goyette P, Frosst P, Rosenblatt DS, Rozen R (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 56: 1052-1059.
5. Grandone E, Margaglione M, Colaizzo D, et al (1997) Factor V Leiden, C→T MTHFR polymorphism and genetic susceptibility to preeclampsia. Thromb Haemost 77: 1052-1054.
6. Hague WM (2003) Homocysteine and pregnancy. Best Pract Res Clin Obstet Gynaecol 17: 459-469.
7. Harpey JP, Rosenblatt DS, Cooper BA, Le Moel G, Roy C, Lafourcade J (1981) Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: A case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy. J Pediatr 98: 275-278.
8. Horne DW, Patterson D (1988) Lactobacillus casei microbiological assay of folic acid derivatives in 96-well microtiter plates. Clin Chem 34: 2357-2359.
9. Houghton LA, Sherwood KL, Pawlosky R, Ito S, O'Connor DL (2006) [6S]-5-Methyltetrahydrofolate is at least as effective as folic acid in preventing a decline in blood folate concentrations during lactation. Am J Clin Nutr 83: 842-850.
10. Lamers Y, Prinz-Langenohl R, Bramswig S, Pietrzik K (2006) Red blood cell folate concentrations increase more after supplementation with [6S]-5-methyltetrahydrofolate than with folic acid in women of childbearing age. Am J Clin Nutr 84: 156-161.
11. Li D, Pickell L, Liu Y, Wu Q, Cohn JS, Rozen R (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.
12. Melnyk S, Pogribna M, Pogribny IP, Yi P, James SJ (2000) Measurement of plasma and intracellular S-adenosylmethionine and S-adenosylhomocysteine utilizing coulometric electrochemical detection: Alterations with plasma homocysteine and pyridoxal-5-phosphate concentrations. Clin Chem 46: 265-272.
13. Nelen WL (2001) Hyperhomocysteinaemia and human reproduction. Clin Chem Lab Med 39: 758-763.
14. Nurk E, Tell GS, Refsum H, Ueland PM, Vollset SE (2004) Associations between maternal methylenetetrahydrofolate reductase polymorphisms and adverse outcomes of pregnancy: The Hordaland Homocysteine Study. Am J Med 117: 26-31.
15. Reeves PG, Nielsen FH, Fahey GC (1993) AIN-93 purified diets for laboratory rodents: Final report of the American Institute of Nutrition ad hoc writing committee on the reformulation ofthe AIN-76A rodent diet. J Nutr 123: 1939-1951.
16. Schwahn BC, Chen Z, Laryea MD, et al (2003). Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. FASEB J 17: 512-514.
17. Schwahn BC, Laryea MD, Chen Z, et al (2004) Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. Biochem J 382: 831-840.
18. Tamura T, Freeberg LE, Cornwell PE (1990) Inhibition of EDTA of growth of Lactobacillus casei in the folate microbiological assay and its reversal by added manganese or iron. Clin Chem 36: 1993.
19. Thomas MA, Rosenblatt DS (2004) Severe methylenetetrahydrofolate reductase deficiency. In: Ueland P, Rozen R, eds. MTHFR Polymorphisms and Disease. Georgetown, TX: Landes Bioscience/Eurekah.com, 41-53.
20. Venn BJ, Green TJ, Moser R, McKenzie JE, Skeaff CM, Mann J (2002) Increases in blood folate indices are similar in women of childbearing age supplemented with [6 S] -5-methyltetrahydrofolate and folic acid. J Nutr 132: 3353-3355.