We often get questions about what is MTHFR and how it impacts your health if you have one or two copies of the gene variation. To help shed light on this common genetic condition, we put together an overview of MTHFR, the variations and how to support your overall health if you have it.
The MTHFR gene:
MTHFR gene allows your body to produce an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme converts the amino acid homocysteine into methionine. When there is a variation of MTHFR gene, it results in lower gene activity, leading to elevated homocysteine levels (1). Elevated homocysteine levels are associated with several conditions including inflammation, heart conditions, pregnancy complications, depression and higher risks for certain cancers.
Types of variations:
The two most common variations occur at the 677 and 1298 gene locations.
The MTHFR C677T variation is "associated with reduced enzyme activity, elevated total homocysteine levels and altered distribution of folate. People with an “A” allele for this mutation present a 35% decrease of the normal enzyme activity and “AA” individuals a 70% decrease" (4).
The MTHFR A1298C variation "also impacts MTHFR enzyme activity and homocysteine levels but to a lesser extent than C677T" (4).
Each parent passes down a copy of the MTHFR gene to their children meaning several different combination variations exist. These are the three most likely scenarios:
Homozygous variation - your parents each pass down one copy of the same MTHFR variation (either the 677 gene or the 1298 gene) (3).
Heterozygous variation - One of your parent's passes down a normal gene and the other pass down one copy of the MTHFR variation (either the 677 gene or the 1298 gene) (3).
Compound Heterozygous variation - One parent passes down the 677 gene variation and the other parent passes down the 1298 you have one variation on both the 677 and 1298 gene variation (3).
How does this affect me?
Methylation is the body's natural process to rid itself of toxins. An MTHFR variation impairs your ability to remove toxins as quickly, thus, allowing them to build up in your system. Build ups can lead to symptoms like estrogen dominance, brain fog, depression, or anxiety (2). Often the symptoms alone are treated with antidepressants or other medications without getting to the root cause. Knowing you have an MTHFR variation is the first step in being able to address the root of the problem and treating several symptoms along the way.
Is there testing?
The good news is that a simple blood test will tell you if you have an MTHFR mutation. There are several labs that offer MTHFR tests but we always recommend checking to see if your insurance will cover the testing.
What do I do if I have an MTHFR variation?
Just because you have an MTHFR variation does not mean you are a victim of disease. We may not be able to change our genes but we can certainly change their expression! Make sure you read about MTHFR and understand how your diet and environment could be creating more stress on your ability to methylate. Eating processed foods and living in an environment filled with artificial light can constantly bombard your body with toxins that the MTHFR variation makes it harder to get rid of. By eliminating additional stressors, you are already well on your way to minimizing the impact of an MTHFR variation.
But sometimes changing your diet and environment alone is not enough. In these cases, a bioavailable B complex will help your body properly methylate. Stay away from synthetic B vitamins because your body has a hard time processing them and they can actually build up in your system, leading to more toxins in the body.
Remember, everyone's body runs differently, which is why you should consult a naturopathic doctor or a medical profession who understands and works with MTHFR variations on a daily basis to get the best treatment plan for you.
We may not be able to change our genes but we can certainly change their expression!
Sources:
MTHFR gene allows your body to produce an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme converts the amino acid homocysteine into methionine. When there is a variation of MTHFR gene, it results in lower gene activity, leading to elevated homocysteine levels (1). Elevated homocysteine levels are associated with several conditions including inflammation, heart conditions, pregnancy complications, depression and higher risks for certain cancers.
Types of variations:
The two most common variations occur at the 677 and 1298 gene locations.
The MTHFR C677T variation is "associated with reduced enzyme activity, elevated total homocysteine levels and altered distribution of folate. People with an “A” allele for this mutation present a 35% decrease of the normal enzyme activity and “AA” individuals a 70% decrease" (4).
The MTHFR A1298C variation "also impacts MTHFR enzyme activity and homocysteine levels but to a lesser extent than C677T" (4).
Each parent passes down a copy of the MTHFR gene to their children meaning several different combination variations exist. These are the three most likely scenarios:
Homozygous variation - your parents each pass down one copy of the same MTHFR variation (either the 677 gene or the 1298 gene) (3).
Heterozygous variation - One of your parent's passes down a normal gene and the other pass down one copy of the MTHFR variation (either the 677 gene or the 1298 gene) (3).
Compound Heterozygous variation - One parent passes down the 677 gene variation and the other parent passes down the 1298 you have one variation on both the 677 and 1298 gene variation (3).
How does this affect me?
Methylation is the body's natural process to rid itself of toxins. An MTHFR variation impairs your ability to remove toxins as quickly, thus, allowing them to build up in your system. Build ups can lead to symptoms like estrogen dominance, brain fog, depression, or anxiety (2). Often the symptoms alone are treated with antidepressants or other medications without getting to the root cause. Knowing you have an MTHFR variation is the first step in being able to address the root of the problem and treating several symptoms along the way.
Is there testing?
The good news is that a simple blood test will tell you if you have an MTHFR mutation. There are several labs that offer MTHFR tests but we always recommend checking to see if your insurance will cover the testing.
What do I do if I have an MTHFR variation?
Just because you have an MTHFR variation does not mean you are a victim of disease. We may not be able to change our genes but we can certainly change their expression! Make sure you read about MTHFR and understand how your diet and environment could be creating more stress on your ability to methylate. Eating processed foods and living in an environment filled with artificial light can constantly bombard your body with toxins that the MTHFR variation makes it harder to get rid of. By eliminating additional stressors, you are already well on your way to minimizing the impact of an MTHFR variation.
But sometimes changing your diet and environment alone is not enough. In these cases, a bioavailable B complex will help your body properly methylate. Stay away from synthetic B vitamins because your body has a hard time processing them and they can actually build up in your system, leading to more toxins in the body.
Remember, everyone's body runs differently, which is why you should consult a naturopathic doctor or a medical profession who understands and works with MTHFR variations on a daily basis to get the best treatment plan for you.
We may not be able to change our genes but we can certainly change their expression!
Sources:
 | Podcasts Want to learn even more about MTHFR and the types of variations? Chris Kresser sits down with fellow colleague Dr. Amy Nett and discusses what parts of the body are involved in methylation and the role MTHFR plays in our over all health. This truly is a great Methylation 101 discussion! |
 | Reads Missed our Autumn Harvest cookbook email? No worries, you can find all the recipes on Avena's Autumn Harvest 2020 Pinterest board! From Thanksgiving slaw to 4 ingredient Apple Butter, there is a recipe to satisfy every Fall craving! If you've already made one of these recipes or have your own, tag us on social media with a picture of it! |
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