Hyperhomocysteinemia and polymorphisms of the methylenetetrahydrofolate gene in hemodialysis and peritoneal dialysis patients

Hyperhomocysteinemia has been documented in chronic renal failure (CRF). Premature as well as progressive occlusive vascular disease is common. Mutations or polymorphisms in the gene of the enzyme methylenetetrahydrofolate reductase (MTHFR), as C677T, A1298C and G1793A, are associated with hyperhomo...

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Bibliographic Details
Published in:Molecular nutrition & food research 2007-11, Vol.51 (11), p.1430-1436
Main Authors: Domenici, Fernanda Aparecida, Vannucchi, Maria T.I, Simões-Ambrósio, Livia M.C, Vannucchi, Helio
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
DNA - blood
DNA - chemistry
Female
Folic acid
Food industries
Fundamental and applied biological sciences. Psychology
Gene Frequency
Genotype
Homocysteine
Humans
Hyperhomocysteinemia - complications
Hyperhomocysteinemia - genetics
Kidney Failure, Chronic - complications
Male
Methylenetetrahydrofolate reductase
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Middle Aged
Mutation - genetics
Peritoneal Dialysis
Polymorphisms
Renal Dialysis
Renal failure
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Summary:Hyperhomocysteinemia has been documented in chronic renal failure (CRF). Premature as well as progressive occlusive vascular disease is common. Mutations or polymorphisms in the gene of the enzyme methylenetetrahydrofolate reductase (MTHFR), as C677T, A1298C and G1793A, are associated with hyperhomocysteinemia and possibly with elevated risk for vascular diseases. This study was conducted on 89 individuals with renal failure on dialysis to determine the allelic and genotypic frequencies of the mutations in the MTHFR gene and hyperhomocysteinemia. Blood samples were colleted for determination of homocysteine and DNA. The C677T, A1298C and G1793A mutations were detected. This study confirmed the high prevalence of hyperhomocysteinemia in patients on dialysis, which was diagnosed in 76 patients (85.39%) and high incidence of the C677T and A1298C mutation, 42 (47.19%) and 29 (32.58%) patients, respectively. Five patients (5.62%) presented the G1793A mutation and hyperhomocysteinemia. The authors concluded that there was no influence of the polymorphisms on homocysteine levels in these patients.
ISSN:1613-4125
1613-4133
1521-3803
DOI:10.1002/mnfr.200700114