A newly published study investigated the role of genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) as a potential genetic marker associated with Coronary Artery Disease (CAD). The researchers observed that the presence of the MTHFR C677T was significantly associated with CAD.
CAD increases the risk of disease and eventually, death, because of the plaque build up in the arteries, also known as atherosclerosis. The complexity of this disease is caused by a combination of effects - genetic and environmental factors - therefore various risk factors have been studied to find association with the development of CAD.
India is experiencing a rapid increase of people with CAD and it has been predicted that this country will host more than half of the cases of heart disease in the world within the next 15 years.
The enzyme plays a crucial role in the metabolism of folates
Genetic polymorphism of MTHFR reductase has received increasing attention as a potential genetic marker associated with atherosclerosis.6,7 The enzyme plays a crucial role in the metabolism of folates and irreversibly converts folates to 5-methyltetrahydrofolate (5-MTHF), the predominant circulatory and biologically active form of folate.
5-MTHF enters the one-carbon metabolism cycle where homocysteine is re-methylated to methionine and the main methyl donor SAMe (S-adenosylmethionine) is produced. SAMe is responsible for important methylation reactions that are required for DNA repair.
The study investigated the specific role of the 677TT polymorphism of MTHFR, where a cytosine (C) to thymidine (T) substitution at nucleotide position 677 leads to an exchange of a highly conserved alanine to valine (677C to T, alanine to valine) in the enzyme structure, resulting in a reduced activity of this enzyme.
This condition may contribute towards progressive atherosclerosis
Consequently, the reduced folate distribution leads to the potential elevation of homocysteine levels and its accumulation in plasma and to DNA hypomethylation in folate-depleted subjects. This condition may contribute towards progressive atherosclerosis through several mechanisms, including function impairment of the heart and blood vessels, oxidative stress induction and promotion of inflammation and blood clots.
210 subjects were enrolled in the study and 100 presented various forms of cardiovascular disease. Details of type of cardiac problems along with radiography findings, blood pressure, history of smoking, hypertension, diabetes, etc. were also recorded. The levels of lipid parameters such as total cholesterol (TC), high-density lipoprotein-cholesterol (HDL-C.) LDL-C. and triglycerol (TG) were measured.
According to the lead researcher,Dr Tantray, the presence of the MTHFR C677T was significantly associated with CAD. The percentage was greater in CAD patients with other common risk factors such as age, sex, diabetes, hypertension and smoking than in the normal subjects. In addition, the levels of TC, LDL-C were higher in CAD patients than controls as compared to HDL-C and VLDL.
Lorena Carboni, Product Support Specialist at Gnosis commented: “The role of this polymorphism in health and longevity is increasingly evident. As the manufacturers of Quatrefolic, the active folate that does not require metabolism and bypasses the polymorphism of MTHFR, we continue to devote efforts and commitment to informing about the latest scientific developments involving folate metabolism and the potential role of right supplementation.”
Access the full study here: Tantray et al. A Study of C677T Polymorphism of Methylenetetrahydrofolate Reductase (MTHFR) Gene and It’s Susceptibility in Coronary Artery Disease. Asian Journal of Biology 2018
