Methylenetetrahydrofolate Reductase (MTHFR)

Methylenetetrahydrofolatereductase (MTHFR) is a methylenetetrahydrofolatereductase enzyme. It stores a lot of attention because of a genetic mutation that can cause excessive homocysteine levels in the blood as well as low folate and other vitamins.

Folate is a B-vitamin that is required for the production of red and white blood cells in the bone marrow. Homocysteine is an amino acid that helps the body’s cells stay healthy. Folate is also involved in the conversion of carbohydrates to energy as well as the production of DNA and RNA.


The MTHFR gene is found on chromosome 1 (1p36.3), and two common alleles have been identified: the C677T (thermo-labile) allele and the A1298C allele. In the metabolism of folate, the enzyme 5, 10-methylenetetrahydrofolate reductase is involved.

Gene mutations are inherited, meaning they are passed down from one generation to the next. Each parent gives you a copy of the MTHFR gene when you are conceived. Your chances of having a homozygous mutation are increased if both of your parents have mutations. Each person has two copies of this gene – one from their mother and one from his or her father.People who have two copies of the C677T mutation are more likely to produce a kid with a neural tube defect.People can inherit one copy of a variant of the MTHFR gene (one copy from each parent) or two copies, depending on where they live in the world.

MTHFR gene variants are what make us unique; they cause differences, such as eye color, hair color, and blood type.These gene variations could have a major impact on your health. If you’re worried about the implications of having one of these exceedingly rare MTHFR gene variations for your health, talk to your doctor or a genetic counsellor.


The MTHFR gene mutation causes a person to have increased sensitivity to cardiovascular and thromboembolic diseases (blood clots, stroke, embolism, and heart attacks), depression, anxiety and stress. The risk of developing these conditions can vary from person to person and from variant to variant. People with mutations in the MTHFR gene can lead to a range of health problems.


The MTHFR gene tells your body how to manufacture the MTHFR protein, which aids in the absorption of folate. Folate is required for the production of DNA and the modification of proteins in the body. A gene variation is a difference in DNA sequence from the anticipated DNA sequence.

Symptoms of MTHFR:

Homocystinuria is a hereditary disease caused by a defect in folate metabolism (also known as vitamin B9).Symptoms usually do not show in newborn babies but may present later in childhood or in adulthood. Newborn screening in most states includes a screening test for homocystineuria so infants can be treated early.


Vitamin B supplements are most commonly prescribed by doctors to treat MTHFR mutation. When a patient’s homocysteine levels are extremely high, treatment is usually necessary. Antidepressants, for example, may be recommended as a treatment for any condition induced by the MTFR mutation.


  1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number:
  2. MTHFR. Genetics Home Reference (GHR). November, 2014;