BACKGROUND Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, a common mutation of the gene encoding the enzyme that catalyzes reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a carbon donor in the metabolism of folate, determines a striking reduction in the enzyme activity in carriers of mutation at homozygous status. PATIENTS AND METHODS We retrospective...

Background: The 5, 10-methyleneterahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are two essential enzymes involved in folate metabolism. The relationship between genetic polymorphisms and congenital heart defects (CHDs) is inconsistent. Our aim was to investigate the association between two well-known polymorphisms of MTHFR and MTRR genes, C677T and A66G, respectively,...

INTRODUCTION Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of thes...

CONTEXT Recurrent spontaneous abortion (RSA) has been associated with venous thrombosis in the mother. Acquired and inherited thrombophilia factors are possible causes. OBJECTIVE To evaluate the association between thrombogenic factors and recurrent spontaneous abortion. TYPE OF STUDY Case-control study. SETTING Centro de Atenção Integral à Saúde da Mulher, Universidade Estadual de Campin...

Osteoarthritis is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. In recent years, numerous genetic factors have been identified and implicated in osteoarthritis. The aim of the current study was to examine the influence of methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation and angiotensin converti...

BACKGROUND The true relationship between methylenetetrahydrofolate reductase C677T homozygosity and risk of recurrent spontaneous abortion is unknown, and it is unclear if women with these mutations should be anticoagulated during pregnancy. OBJECTIVES We report a series of 8 patients with this issue and review the current literature. METHODS 8 patients (3 of whom were actively pregnant) we...

We read the article by Ozturk et al. [1], in which they reported the frequency of some thrombophilic mutations in eastern Turkey. The authors have defined single nucleotide gene variations of factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T as thrombophilic mutations. However, as current scientific data do not support an increased risk of thrombosis in...

C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is a risk factor for stroke, suggesting that widespread detection could help to prevent stroke. DNA from 70 stroke patients and 70 healthy controls was extracted from saliva using a magnetic nanoparticles-based method and from blood using conventional methods. Real-time PCR results revealed that the C677T polymorphism wa...

BACKGROUND AND OBJECTIVE Hyperhomocysteinemia, due to a combination of genetic and environmental factors, is considered to be a risk factor for vascular disease. Individuals with the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR), due to homozygous C677T MTHFR gene mutation, have significantly raised plasma levels of homocysteine and may be at increased risk of vascular dis...

Thromboangiitis obliterans, also known as Buerger’s disease, is a cause of juvenile lower limb ischaemia. Buerger’s disease is idiopathic and one of diagnostic criteria is the absence of atherosclerotic risk factors other than smoking. A possible involvement of thrombophilia has been investigated and the role of hyperhomocysteinemia is still matter of discussion. We describe 9 patients with Bue...