Elevated plasma homocysteine (Hcy) is one of the suggested risk factors for endothelial dysfunction. There is evidence of association between raised plasma Hcy and an increased risk of developing peripheral arterial disease. A causal relationship, however, has not been established. In this report, a 37-year old male patient with the complaints of intermittent hand pain is presented. Brachial ar...

Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction (MI). Single nucleotide at any one amino acid sequences can result diseased state. A single gene exhibit genetic more than position giving rise to different variants. angiotensinogen (AGT) M235T, AGT T174M, angiotensin-1-converting enzyme (ACE) I/D, endothelial nitric oxide synthase (eNOS), methyl...

background: to assess whether the c677t and a1298c mutations in the methylenetetrahydrofolate reductase (mther) gene are associated with recurrent abortion (ra), we determined the frequencies of the t677 and c1298 mutations in patients and controls. materials and methods: mutations were determined by a rflp-pcr method in 53 patients and 61 matched controls. results: the frequencies of t alleles...

We present the case of a 28-year-old woman who was admitted to our cardiology unit for acute coronary syndrome. Her history was notable for cardiovascular disease familiarity, active smoking, and oral contraceptive use. On further analysis, she was noted to have thrombophilic polymorphisms involving the plasminogen activator inhibitor (PAI), angiotensin-converting enzyme (ACE), and methylenetet...

In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In th...

Sheep liver 5,10-methylenetetrahydrofolate reductase was subjected to specific chemical modification with phenylglyoxal, diethyl pyrocarbonate and N-bromosuccinimide. The second-order rate constants for inactivation were calculated to be 54 M-1 X min-1, 103 M-1 X min-1 and 154 M-1 X min-1 respectively. This inactivation could be prevented by incubation with substrates or products, suggesting th...

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease...

DNA methylation is mediated by DNA methyltransferases (DNMTs) that add a methyl group to the 5'-carbon of cytosine. The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate in the rate-limiting step of the cycle involving the methyl donor S-adenosyl-L-methionine (SAM). The MTHFR C677T polymorphism results in a t...