Detection of polymorphisms – MTHFR Gene – Lorgen – Latin America

What are the p.C677T and p.A1298C polymorphisms?

The p.C677T and p.A1298C polymorphisms are two of the most studied variants within this gene. These variations can lead to reduced activity of the MTHFR enzyme, affecting the body's ability to process folate and homocysteine, an amino acid whose elevated levels They are associated with an increased risk of cardiovascular disease, thrombosis and complications in pregnancy, including neural tube defects in the fetus.

• Polymorphism p.C677T (rs1801133): This variant involves the substitution of a cytosine (C) for a thymine (T) at position 677 of the gene. The presence of the T variant can decrease the activity of the MTHFR enzyme by up to 35% in heterozygotes (CT) and up to 70% in homozygotes (TT), which can lead to elevated levels of homocysteine in the blood, especially if the intake of folate is low.
• Polymorphism p.A1298C (rs1801131): This variant involves the substitution of an adenine (A) for a cytosine (C) at position 1298 of the gene. Although the impact of this variant on enzyme activity is less pronounced than that of p.C677T, the presence of two copies of variant C (in a homozygous state) may also contribute to increased homocysteine levels and a decrease in availability. of folate.

Who is this test useful for?

The detection of these polymorphisms is carried out through sequencing analysis. This analysis It is relevant for individuals with a history of cardiovascular diseases, thrombosis, pregnancy complications, either those seeking genetic guidance for family planning. Identification of these polymorphisms may guide decision making related to folate supplementation and risk management for associated health conditions.