MTHFR Gene Mutation for Beginners

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MTHFR Gene Mutation for Beginners


MTHFR Gene Mutation for Beginners


There are over 20,000 genes made of DNA in the human body and they are each essential to defining who you are as a unique individual. One of the thousands of genes in our body is called the MTHFR gene, which has turned a lot of heads recently. 

The MTHFR gene is responsible for helping produce methylenetetrahydrofolate reductase (MTHFR), an enzyme that plays a vital role in turning folic acid (Vitamin B9) into methylfolate, the form your cells use directly. Methylfolate is the most active form of folate or Vitamin B9 -- and is important for methylation. 

Methylation is a process that helps create DNA, allows for detoxification to occur, promotes neurotransmitters, and even plays a role in metabolizing hormones. The MTHFR gene will also help convert homocysteine to methionine -- a building block for most proteins and an important step for cardiovascular health.

If your MTHFR gene isn’t functioning properly, your body won’t be utilizing Vitamin B9 to its fullest potential and believe it or not, this may actually put you at risk for some unwanted symptoms. 

What Is an MTHFR Gene Mutation? 

As we learn more about the MTHFR gene, it’s becoming increasingly clear that more and more people experience issues with it. In fact, over half of the planet’s population suffer from an MTHFR gene mutation -- and most will never know it!

While there are plenty of mutations (or variants) found in the MTHFR gene, two of them have raised the most awareness. They are: 677 and 1298. The more variants you have in the gene, the less effective it will be at doing its job. And when it’s not working properly, you could experience a wide range of health concerns that may need to be monitored.

Symptoms of MTHFR Gene Mutation

Researchers have uncovered a variety of symptoms found in people with an MTHFR gene variant. It’s important to note that the mutation will affect people differently. Some might experience extreme symptoms, while others hardly at all. 

Here are some of the most common symptoms researchers have revealed: 

  1. Excessive fatigue, both physically and mentally
  2. Frequent headaches and migraines
  3. Irritable Bowel Syndrome and other problems with the digestive system
  4. Hormonal problems
  5. Attention Deficit Hyperactivity Disorder
  6. Cardiovascular and heart disease
  7. Thyroid difficulties
  8. Autoimmune disease
  9. Depression, stress, and anxiety


Since the symptoms can be light for some people, many will brush them off as nothing to worry about. In reality, they could lead to much more serious issues down the line -- not to mention taking away from your quality of life. 

Treating MTHFR Gene Mutations

If it’s suspected that you have an MTHFR gene mutation, a test will be able to determine that for sure. In the event you do have one of these variants, you will be joining over half of the population, so don’t feel alone.

The good news is there’s plenty you can do to solve the problem short-term and long-term. Since folate plays such a large role in methylation, increasing your consumption of active Vitamin B9 (or methylfolate) can be a great place to start. Many people will also be deficient in Vitamin B12, which would make another good supplement to add to your diet, but only if you choose one or all of its 3 active forms (hydroxocobalamin, methylcobalamin and/or adenosylcobalamin). 

Other natural treatments would include reducing the amount of alcohol you intake, eating more fiber, less processed foods, more healthy foods, exercise regularly, drink plenty of water, limit the amount of stress in your life, and take care of your digestive system. 

    Written By,
    - Jamie Hope


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