MTHFR Polymorphisms and Disease by Per Magne Ueland

By Per Magne Ueland

Methylenetetrahydrofolate reductase (MTHFR) is a severe enzyme in either folate and homocysteine metabolism. It first completed scientific attractiveness in 1972 with the document of serious deficiency of MTHFR in a sufferer with homocystinuria, an inborn mistakes of metabolism characterised through marked elevation of homocyst(e)ine in plasma and urine. even though nearly all of situations of homocystinuria are because of a deficiency of the 1st enzyme within the transsulfuration pathway for homocysteine metabolism, cystathionine-ß-synthase (CBS), disruption of homocysteine remethylation to methionine may also bring about homocystinuria. With the id of extra sufferers with critical MTHFR deficiency, the heterogeneity of this ailment turned manifest.

This e-book covers a few of the advanced qualities which have been pronounced to be inspired through the well-characterized 677C→T variation; there's much less details at the 1298A→C version, however it is mentioned the place acceptable. it really is relatively dazzling, and exact, unmarried variation may still effect the sort of good selection of medical conditions.

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Genet Test 2000; 4(3):309-311. 13. Meisel C, Cascorbi I, Gerloff T et al. Identification of six methylenetetrahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: Impact on plasma homocysteine levels and development of coronary artery disease. Atherosclerosis 2001; 154(3):651-658. 14. Hanson NQ, Aras O, Yang F et al. C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: Incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease.

Human Mol Genet 2001; 10:433-443. 56. Chen Z, Ge B, Hudson TJ et al. Microarray analysis of brain RNA in mice with methylenetetrahydrofolate reductase deficiency and hyperhomocysteinemia. Gene Expression Patterns 2002; 1:89-93. 57. Ho PI, Ortiz D, Rogers E et al. Multiple aspects of homocysteine neurotoxicity: Glutamate excitotoxicity, kinase hyperactivation and DNA damage. J Neuroscience Res 2002; 70:694-702. 58. Schwahn BC, Chen Z, Laryea MD et al. Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency.

18. Ulvik A, Refsum H, Kluijtmans LA et al. C677T mutation of methylenetetrahydrofolate reductase gene determined in blood or plasma by multiple-injection capillary electrophoresis and laser-induced fluorescence detection. Clin Chem 1997; 43(2):267-272. 19. Bravo-Osorio M, Bydlowski SP. Detection of methylenetetrahydrofolate reductase (MTHFR) C677T and prothrombin G20210A mutations: Second restriction site for digestion control of PCR products. Clin Chim Acta 2000; 301(1-2):219-223. 20. Benson JM, Ellingsen D, Renshaw MA et al.

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