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International Journal of Clinical Biochemistry and Research


Methylenetetrahydro folatereductase enzyme polymorphism associated with hyperhomocysteinemia in patients with stroke


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Author Details: Pramod Sudam Kamble, MP Bankar, DJ Trivedi, Srirang Kulkarni, Rakesh M

Volume : 3

Issue : 4

Online ISSN : 2394-6377

Print ISSN : 2394-6369

Article First Page : 433

Article End Page : 437


Abstract

Cerebrovascular stroke is complex heterogeneous multifactorial disorder associated with number of risk factors, including diabetes mellitus,hypertension, tobacco smoking or chewing; etc. MethylenetetrahydroFolate reductase (MTHFR) enzyme is one of the main regulatory enzymerequired for the metabolism of homocysteine. An impaired function of this metabolic pathway leads to accumulation of homocysteine in blood. The elevation of plasma total homocysteine and deficiency of B-vitamins such as folic acid and vitamin B12 factors associated with increased cardiovascular cerebrovascular and thromboembolic risk. A single nucleotide polymorphism of the MTHFR gene C677T causes reduction in enzyme activity. In the current study, we determined the prevalence of C677T mutation andcorrelated them to plasma total homocysteine, folic acid and vitaminB12.
Total 50 cerebral stroke patients and 50 normal, healthy subjects acting as controls were taken for the study. The total homocysteine level in plasma was determined by high performance liquid chromatography (HPLC). Plasma level of folic acid and vitamin B12were estimated by competitive immunoassay using direct chemiluminescence technology. ARMS PCR was used toexamine MTHFR C677T polymorphism.
Result shows concentration of significantly low plasma Folatelevels,whereas vitamin B12 does notshow any significant differencein patients than controls.Total homocysteine concentrations in plasma were significantly higher in stroke as compared to controls. The variation in gene of MTHFR C677T and reduced level of B-vitamins have been related to hyperhomocysteinemia.

Keywords: 
Methylenetetrahydro Folatereductase, Hyperhomocysteinemia, Cerebral stroke, Folic acid, B12 vitamin