Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor

Abstract

Myocardial infarction (MI) is a cardiovascular disease that occurs due to the blockage of the coronary artery. Subsequently, cardiac muscles receive a lower oxygen supply, which leads to the death of cardiac muscles. The etiology of MI is linked to various environmental, occupational, and genetic factors. Various studies have been conducted on the polymorphism of genes involved in MI. Previous studies have shown that different variants of the methylene tetrahydrofolate reductase (MTHFR) gene are involved in causing MI by altering the metabolism of folate and homocysteine. However, the genetic polymorphism of MTHFR C677T (rs1801133) and its association with MI in the presence of diabetes mellitus (DM) as a risk factor still needs to be investigated. This study recruited 300 participants who were divided into three groups, i.e., the control, MI, and MI-DM. The blood samples collected from the study participants were subjected to various biochemical tests and their clinical parameters were monitored. MTHFR C677T (rs1801133) genotyping was performed by Tetra ARMS PCR using predetermined primers. The MTHFR C677T (rs1801133) polymorphism was associated with MI in the presence of DM as a risk factor among the participants. The MTHFR C677T (rs1801133) T/T homozygous genotype was found to be significant among MI patients in the presence of DM as a risk factor.

Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome

“…Methylenetetrahydrofolate reductase (MTHFR) deficiency involved in folate metabolism, specifically the synthesis of 5-methyl-tetrahydrofolate (5-MTHF), which is the biologically active form of folate required for the remethylation of homocysteine to methionine, has been associated with neuropsychiatric illness [10]. At present, there are about 247 single nucleotide polymorphisms (SNPs) of MTHFR documented in the Single Nucleotide Polymorphism Database (dbSNP) [11] and according to recent evidence, approximately 200 pathogenic MTHFR variants have been identified [12]. The genetic polymorphisms rs1801133 and rs1801131 are said to be important polymorphisms that have an impact on MTHFR activity [13].…”