Methylenetetrahydrofolate gene mutation

Brattstrom L, Zhang Y, Hurtig M et al. A common methylenetetrahydrofolate reductase gene mutation and longevity. Atherosclerosis 1998 141 315-319. 

Matsushita S, Muramatsu T, Arai H, Matsui T, Higuchi S. The frequency of the methylenetetrahydrofolate reductase-gene mutation varies with age in the normal population. Am J Hum Genet 1997 61 1459-1460. 

Brattstrom L, Wilcken DE, Ohrvik J, Brudin L. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteiiiemia but not to vascular disease the result of a meta-analysis. Circulation 1998 98 2520-6. 

Bagley PJ, Selhub J. A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells. Proc Natl Acad Sci USA 1998 95 13217-13220. 

Goyette R et al, Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/ phenotype correlations in severe methylenetetrahydrofolate reductase deficiency, Am J Hum Genet 1995 56(5) 1052-1059. 

Goyette R et al, Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR, Am J Hum Genet 1996 59(6) 1268-1275. 

Nishio H, et al, A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population. Jpn J Hum Genet I 996 41 (2) 247-251. 

Vilaseca MA, Monros E, Artuch R, Colome C, Farre C, Vails C, Cardo E, Pineda M. Anti-epileptic drug treatment in children hyperhomocysteinaemia, B-vitamins and the 677C T mutation of the methylenetetrahydrofolate reductase gene. Eur J Paediatr Neurol 2000 4(6) 269-77. 

Kluijtmans, L., Heuvel, L., Boers, G., Frosst, R, Stevens, E., Oost, B., Heijer, M., Trijbels, F., Rozen, R., and Blom, G. (19%). Molecular genetic analysis in mild hyperhomocyste-inemia A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am. J. Hum. Genet. 58,35-41. 

Methyltetrahydrofolate (5-MTHF). The circulating form of folic acid in humans. 5-MTHF is produced by 5,10-methylenetetrahydrofolate via the action of MTFH reductase (MTHFR). 5-MTHF scavenges peroxynitrites, the main BH4 oxidant, and helps to BH4 regeneration inside the human vascular wall. It is considered the key mediator of folic acid s vascular effects (as in the presence of the C677T mutation in MTHFR gene that reduces enzyme s activity almost by half). 

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