Role of Methylenetetrahydrofolate Reductase (MTHFR) C677T Mutation in Cardiac Syndrome X

Abstract

Background: Cardiac syndrome X (angina-like chest pain, positive stress - ECG, and normal coronary angiogram) has serious medical complications. Methylenetetrahydrofolate reductase (MTHFR C677T) may be an important factor associated with the disease.

Objective: The present study aimed to evaluate the association between MTHFR C677T mutation and cardiac syndrome X (CSX) in Sudanese population.

Materials and methods: A total of 50 patients with CSX and their matching controls were enrolled in this study. Venous blood sample was collected from each participant in Ethylene Diamine Tetra Acetic acid (EDTA). DNA was extracted from blood samples using guanidine chloride method and MTHFR mutation was detected by polymerase chain reaction- restriction fragment polymorphism (PCR-RFLP). Data were analyzed using statistical package for social sciences (SPSS), version 18.

Results: The mean age for patients was 44.98 years and for controls was 40.38 years. MTHFR C677T was significantly associated with CSX (20% versus 4% in control group; P.value: 0.014); the frequency of the heterozygous allele was higher than the homozygous allele (20% vs. 2%).

Conclusion: MTHFR C677T is associated with CSX in Sudanese population. The mutation may be used as a molecular screening tool for the disease.