Background: Cardiac Syndrome X (CSX) is a condition affecting the cardiovascular system with significant degree of morbidity. Diagnosis and treatment are challenging when cause unclear. Subsequently, molecular marker for screening people CSX highly recommended. The present study evaluated association between MTHFR C677T gene polymorphism among Sudanese patients CSX.
 Materials Methods: A t...

background: leber hereditary optic neuropathy (lhon) is an inherited form of bilateral optic atrophy leading to the loss of central vision.  the primary cause of vision loss is mutation in the mitochondrial dna (mtdna), however, unknown secon­dary genetic and/or epigenetic risk factors are suggested to influence its neuropathology.  in this study folate gene polymor­phisms were examined as a po...

Moderately elevated plasma homocysteine levels have been established as independent risk factors in vascular disease, including ischemic stroke. Recently, a common mutation (C677T) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene reducing the activity of MTHFR and increasing homocysteine levels in plasma was reported. The C677T MTHFR mutation may be a risk factor for ischemic stroke...

BACKGROUND Intrauterine growth retardation (IUGR) contributes significantly to fetal morbidity and mortality, but its etiology is unknown in most cases. OBJECTIVE The aim of this study was to examine the association between inherited thrombophilia and IUGR. MATERIALS AND METHODS A case-control study was performed in a tertiary referral center (Afzalipour Hospital) over 2-years period (2010-...

PURPOSE Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, and systemic lupus erythematosus (SLE). METHODS Mutation analysis was done by sequencing two candi...

The presence of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene has been regarded as a genetic risk factor for coronary artery diseases and neural tube defects. Although the prevalence of this mutation has been reported from various ethnic populations, few data concerning Indonesian populations are available. We have investigated the frequency of the mutation in 68 In...

Moderate elevation of plasma total homocysteine (tHcy) is a strong and independent risk factor for coronary artery disease (CAD). It can result from genetic or nutrient-related disturbances in the transsulfuration or remethylation pathways for Hcy metabolism. A point mutation (C677T; Ala-to-Val) in the gene encoding the 5, 10-methylenetetrahydrofolate reductase (MTHFR) has been recently reporte...

This study was initiated to investigate prothrombotic risk factors in children with porencephaly. 76 porencephalic and 76 healthy infants were investigated for factor V (FV) G1691A mutation, factor II G20210A variant, methylenetetrahydrofolate reductase (MTHFR) C677T genotype, lipoprotein (a), protein C, protein S, and antithrombin. Only the FV mutation (p = 0.005) and combinations of two or th...

Increased plasma total homocysteine (tHcy) levels shown to be a risk factor for coronary artery disease (CAD). The common methylenetetrahydrofolate reductase C677T (MTHFR C677T) polymorphism has been reported to be a strong predictor of mild hyperhomocysteinaemia (HHcy). We assessed whether this mutation was associated with increased risk of myocardial infarction (MI) and plasma levels of tHcy....

INTRODUCTION The functional point mutation C677T in the methylenetetrahydrofolate reductase (MTHFR) gene, has been reported to contribute to hyperhomocysteinaemia which is a risk factor for atherothrombotic ischaemic strokes. This study evaluated the prevalence of the C677T polymorphism of the gene in Malaysian ischaemic stroke subjects of Malay, Chinese and Indian ethnicities, and its associat...