A side effect of MTHFR: Homozygous MTHFR mutation

We all have MTHFR in our bodies, but it’s important to know why it’s there, what homozygous MTHFR mutation can lead to, and now to take care of your health.

Homozygous MTHFR is a mutation, which means that your DNA has two copies of the MTHFR gene rather than one. One copy is in each of your cells and protects your body from errors in the enzyme that breaks down certain vitamins. If one copy loses its job, it may leave you vulnerable to certain diseases and disorders.

A study published in The New England Journal of Medicine in 2002 showed that a genetic mutation in the MTHFR gene was more common among people with pancreatic cancer compared to healthy people. The researchers also mentioned homozygous MTHFR mutation as another major cause.

What is homozygous MTHFR mutation?

Homozygous MTHFR mutation is one of the most common genetic diseases worldwide. It is caused by a missing enzyme (methylene-tetrahydrofolate reductase) which can cause several problems when not treated. About 30% of homozygous mutations are on the thymidine phosphorylase gene, which is involved in DNA replication, repair, and recombination.

Homozygous MTHFR mutation is an inherited condition that affects your ability to produce the B12 vitamin. In simple terms, it causes you to be deficient in B12. The problem is that this condition is extremely rare—only about 1 in 10,000 people have it. Now that you understand what is MTHFR gene mutation-type Homozygous, it’s time you learn more about the details.

What are homocysteine levels?

Homocysteine is a byproduct of the conversion of the amino acid methionine to homocysteine in the body. As we age, our bodies naturally produce more homocysteine. Genetics also affect homocysteine levels: people with hereditary hemochromatosis have an increased risk of elevated levels of homocysteine.

The MTHFR gene mutation is associated with elevated levels of homocysteine and an increased risk of heart disease. Homozygous individuals (those with two mutations) have even more elevated homocysteine levels, which can lead to heart problems and other health issues.

Can homozygous MTHFR mutation lead to increased risk of DNA damage?

Yes, there is a possible increased risk of DNA damage caused by the homozygous mutation. The MTHFR enzyme works in two steps: it converts the folate molecule into 5-MTHF and then transfers that compound to the S-adenosylmethionine (SAM) molecule. The enzyme is responsible for converting one of your body’s most essential nutrients into an important co-factor for many other reactions.

A homozygous mutation results when all but one of the enzyme’s active sites are mutated and produces a product that cannot be used correctly by the body. This can result in structural abnormalities in DNA, leading to cancer or other genetic diseases later in life.

Signs and symptoms of homozygous MTHFR mutations

MTHFR mutations can cause a wide range of symptoms, from mild to severe. The most common sign of a homozygous MTHFR mutation is the inability to convert folic acid into its active form, which can cause anemia.

Mild symptoms of homozygous MTHFR mutation

  • Fatigue
  • Headaches
  • Joint pain
  • Muscle aches
  • Stomach upset or pain

Severe symptoms of homozygous MTHFR mutation

  • Nausea and vomiting, sometimes severe enough to be incapacitating (even when taken with anti-nausea medication)
  • Loss of appetite and weight loss

However, there’s a chance that these symptoms may not appear in you. According to a study, some people with a homozygous MTHFR mutation may exhibit no symptoms at all.

Why it is important to understand the significance of homozygous MTHFR mutation.

In short, the cause of your MTHFR mutation is almost assuredly a combination of genetic and environmental factors. While you can’t do anything to change your genetics, you can work to combat the negative effects of living in an MTHFR-inducing environment.

People with this mutation should strive to eat plenty of leafy greens, take a daily multivitamin, and get antioxidants from colorful fruits and vegetables. They should also ensure they get enough B12, which will help protect against the buildup of homocysteine in the body.

Photo by Etienne Boulanger