What does methylenetetrahydrofolate reductase do?

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving the vitamin folate (also called vitamin B9).

What causes methylenetetrahydrofolate reductase?

Risk factors. People inherit one copy of the MTHFR gene from each of their parents, which means that everyone has two MTHFR genes. Mutations can occur in one or both of these genes. Having a parent or close relative with an MTHFR gene mutation can increase a person’s risk of inheriting the same variant themselves.

What is methylenetetrahydrofolate reductase polymorphism?

A common genetic polymorphism results from a C→T substitution in the gene encoding methylenetetrahydrofolate reductase (MTHFR), the enzyme that produces 5-methyltetrahydrofolate (5-methyl-THF) required for the conversion of homocysteine to methionine.

What is Mthfr deficiency thermolabile type?

A common genetic variant in the MTHFR gene has been identified in which a C to T substitution at position 677 leads to an amino-acid change from alanine to valine, resulting in a thermolabile variant of the enzyme, which has approximately 30% of the wild-type enzyme activity.

What is methylenetetrahydrofolate reductase mutation?

It refers to a relatively common genetic mutation. MTHFR stands for methylenetetrahydrofolate reductase. It’s getting attention due to a genetic mutation that may lead to high levels of homocysteine in the blood and low levels of folate and other vitamins.

What causes high homocysteine?

Most people who have a high homocysteine level don’t get enough folate (also called folic acid), vitamin B6, or vitamin B12 in their diet. Replacing these vitamins often helps return the homocysteine level to normal. Other possible causes of a high homocysteine level include: Low levels of thyroid hormone.

What is the MTHFR C677T mutation?

The MTHFR C677T variant affects how your body processes folate. You might have read or heard that folic acid is not safe if you have one or two copies of the MTHFR C677T variant.