New Insight of Methylenetetrahydrofolate Reductase (MTHFR) C677T Gene Polymorphisms, and Serum Electrolytes in Cardiac Syndrome X Patients

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

Materials and Methods: A total of 100 subjects were enrolled. Venous blood sample was collected from each participant in Ethylene Diamine Tetracetic Acid (EDTA) containers. DNA was extracted from blood samples using guanidine chloride method and MTHFR mutation was detected by PCR-restriction fragment polymorphism (PCR-RFLP). Statistical package for social sciences (SPSS) was used to analyze data.

Results: Most patients 30(60%) were females, their age ranged between 30-60 with mean age 44.98±7.34 SD. MTHFR 677CT genotype frequency was statistically significant (P≤0.014), where 10(20%) had 677CT and 1(2%) had 677TT among patients group respectively compared to control individuals who had only 2(4%) 677CT. T alleles were significantly more frequent among our participant than C alleles. There is insignificant slightly decreased (2.4 ±2.8, and 2.5±3.2) in serum magnesium levels among patients compared to control respectively, as well as random blood glucose. Elevated mean levels of total cholesterol, and HDL among patients (182 ±18.1, and 49.7±7.1) vs (180 ±20.3, and 46.6 ±11.3) among control group, all findings were statistically non-significant. Slightly decrease in magnesium level (2.2 ±2.1, vs 2.9 ±0.8) among heterozygous CT genotypes compared to homozygous genotypes.

Conclusion: MTHFR C677T is linked to CSX in the Sudanese population, and serum magnesium level was slightly decreased among heterozygous MTHFR C677T. Furthermore, the mutation could be used as a disease molecular screening technique.