Title: Influence of 5,10-Methylenetetrahydrofolate Reductase (MTHFR) polymorphism toplasma homocysteine concentration in ESRD patients on maintenance hemodialysis.
Abstract: Objectives: Hyperhomocysteinemia is frequently observed in patients with chronic renal failure and represents an independent cardiovascular risk factor in these patients. Elevated homocysteine plasma levels can result from defective remethylation of homocysteine to methionine due to decreased activity of the enzyme MTHFR. A genetic aberration in the MTHFR gene (677 C to T substitution) has been shown to result in reduced MTHFR activity. We examined whether elevation of homocysteine plasma level in hemodialysis patients is influenced by the 677 C to T mutation of the MTHFR gene. Method: We examined MTHFR gene mutation, homocysteine, vitamin B12, folate levels of those 106 patients on maintenance hemodialysis treatment at dialysis unit of Soonchunhyang University Chunan Hospital. Results: Of 106 patients, 17(16.0%) were homozygous far the mutation (VV), 63(58.4%) were heterozygous for the mutation (AV) and remaining 26(24.5 %) were normal. We mean homocyteine level in (VV) genotypic patients was 39.58±10.6 μmol/L, (AV) genotypic patients was 26.24±3.77 μmol/L and in no mutation was 26.07±4.52 μmol/L There was no significant difference of homocysteine levels between polymorphisms of MTHFR gene. Conclusion: Our data shows that the frequency of MTHFR genotype in maintenance hemodialysis patients is similar to that of previous studies. But, there is no significant relationship between the MTHFR gene mutation and homocysteine level.
Publication Year: 1998
Publication Date: 1998-01-01
Language: en
Type: article
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Cited By Count: 1
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