How does someone get the MTHFR gene defect?


You may know that your body consists of more than a trillion cells, each carrying a geneset of instructions required to make your body, and what specialty you will hold. Thus, a slight change in this microscopic world can cause serious problems in your body.

What is an MTHFR gene?

MTHFR is a gene that provides a set of instructions to your body for making an enzyme known as methylenetetrahydrofolate reductase (MTHFR). This enzyme converts folate (vitamin B9) into its active form, Methylfolate. This conversion is crucial for amino acid metabolisms. And methylfolate is required in many biological processes such as; methylation (activate hormones, neurotransmitters, and other chemicals).

How does someone get the MTHFR gene defect?

MTHFR gene mutation means your MTHFR genes are defective or muted. They do not provide instructions to your body to make the MTHFR enzyme. As a result, the body is helpless in the formation of an MTHFR enzyme.

MTHFR gene defect is an inhereditary disease someone gets from their parents (maybe from one or both parents). If persons have the one muted gene are known as heterozygous, and if two muted genes-are known as homozygous.

The common variants of the MTHFR gene are C677T and A1298C; you can get one or both variants from your parents.

·        C677T gene mutation:

In the United States, nearly 20% to 40% of Hispanic and White people are heterozygous for the MTHFR variant. The ability of heterozygous people to produce MTHFR enzyme is reduced by almost 65% than normal. And the capability of homozygous people to produce MTHFR enzyme is reduced by 30%.

·        A1298C gene mutation:

However, this variant is less studied than the C677T variant and less common in people. The homozygous people for the MTHFR A1298C reduce the 60% functioning of the enzyme.

The people who carry both MTHFR C677T and MTHFR gene variants are double heterozygous.

If someone carries both copies of C677T mutations or carries one copy from each mutation, he is at a risk of health problems.

What are the effects of an MTHFR gene mutation?

The MTHFR gene mutation effects may vary from person to person and from variant to variant. However, the effects of MTHFR mutation is an active topic for researchers; and scientists are not completely sure that MTHFR alone is responsible for following health conditions. The significant health issues associated with MTHFR are;

  • Mental disorders (depression, anxiety, bipolar disorder, migraines, nerve pain, etc.)
  • Cardiovascular diseases (blood clotting, embolism, heart attacks, etc.)
  • Severe pain and fatigue
  • Colon cancer
  • Blood cancer
  • Digestive problems
  • Hormonal Issues
  • Miscarriages or spontaneous abortion
  • Babies born with neural tube defects
  • Homocystinuria

The uncertainty arises because these health conditions (except homocystinuria) also happen when the homocysteine level is high in your body.

What are the possible treatments for MTHFR gene mutation?

Unfortunately, there are fewer chances to treat the gene mutations because studying the microscopic world is quite tricky. Undoubtedly, researchers are continuing and finding possible ways to treat different disease. However, doctors find alternative methods for the treatment of MTHFR gene mutations, including;

  • Folate and Vitamin B12: You should consume foods containing dense folate and vitamin B12. You should also use supplements containing folic acid, dihydrofolate, particularly methylfolate (folate active form)
  • Quitting alcohol, smoking, and addictive medicines
  • Exercising
  • Heal your digestive systems by consuming a healthy diet that contains a variety of microbes.

If you have defective MTHFR gene, don’t worry, you may live a healthy life by adopting a decent lifestyle, eating nutrient-rich food, and exercising that may prevent you from other diseases.


MTHFR gene defects reduce or stop the synthesis of the MTHFR enzyme depending on which variant you carry. You may know MTHFR enzyme is the main regulatory enzyme of amino acid metabolism. If the conversion of folate into methylfolate is not taking place; consequently, you experience serious health issues. However, you can overcome this by taking folate food, supplements, and healthy lifestyle.