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Home » Detox Series » How do I know if I have MTHFR?

How do I know if I have MTHFR?

Published November 12, 2019. Last modified November 12, 2019 By Anne Marie 1 Comment

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An image of a water jug with grapefruit it in on a marble surface. Above the image is the text: "MTHFR what you need to know before you start a detox."

Maybe you’ve heard of MTHFR, the often-mutated gene that can affect pregnancy and your body’s detoxification abilities. How do you know if you have MTHFR?

While everyone has the MTHFR gene, about 30-50% of us have a slight genetic snp that can cause an array of symptoms. But don’t worry! After testing for a mutation through your doctor or a company like 23andme, you can learn how MTHFR is treated and the best MTHFR diet. Here are some indicators and symptoms of MTHFR to get you started!

An image of a water jug with grapefruit it in on a marble surface.

Many people who deal with chronic illness have underlying genetic factors that contribute to their health challenges. These vary widely. They can be something directly inherited from a parent, a genetic mutation that makes it more difficult for our bodies to maintain health, or even genes that are turned on my environmental factors or stress. Today, we are going to focus on a gene mutation that affects nutrient absorption and detoxification pathways in particular: the MTHFR gene mutation. 

Does everyone have the MTHFR gene?

You can check out “MTHFR Gene Mutation: 6 Simple Things To Do If You Have It!” to get a quick lesson on what the MTHFR mutation is (and no, it’s not an acronym for a curse word). It’s a slight change in an important sequence of DNA, which tells your body how to make an enzyme that helps create methyl-folate from foods that contain folate.

Methyl-folate is not a nutrient that typically gets a lot of press, but it’s used in a variety of different bodily processes, including metabolizing other nutrients and aiding in detoxification so that your body can continue to produce new, healthy cells.

How to I know if I have MTHFR?

Figuring out if you have MTHFR is another piece of the chronic illness puzzle. Let’s look at some of the specifics.

What are the symptoms of MTHFR?

Like many inflammatory conditions, the symptoms related with the MTHFR gene mutation are pretty non-specific, so I can’t give you a list to check off. There simply aren’t conclusive MTHFR indicators! 

Before I go through some of the more extreme conditions that can be caused by MTHFR, I want to make sure you understand that having MTHFR doesn’t mean you are destined to experience any of them. These conditions include:

  • heart disease
  • inappropriate blood clotting and the problems caused by clots (like embolism, stroke, and heart attack)
  • depression, anxiety, and schizophrenia
  • colon cancer
  • leukemia
  • chronic pain, chronic fatigue, and nerve pain
  • migraines
  • recurrent unexplained miscarriages and pregnancies with neural tube defects 

The reality is that most people with the MTHFR mutation will not experience such serious conditions, but rather trouble healing from inflammatory conditions, hormonal imbalances, fatigue, digestive issues, and autoimmune disease.

If you’ve been following a healing diet like the autoimmune paleo protocol and implemented some important lifestyle changes but are still struggling to heal, you may want to look into your MTHFR gene.

How to get tested for MTHFR:

There aren’t any conclusive MTHFR symptoms to determine if you have the mutation. It goes without saying, but the most accurate way to determine a genetic mutation is by doing genetic testing. 

Does 23andme test for MTHFR?

After sending in your DNA sample, companies like 23andme and Ancestry.com will send you a report with some genetic data that has been interpreted for you, and some that is raw, meaning you have to figure out what it means. The two SNPs (meaning sequences) that are associated with the MTHFR gene mutation are part of this raw data.

It’s pretty confusing to figure this out on your own, but we are all about patient empowerment here, and it’s much more straightforward if you know what to look for. For all genes, you have two alleles, which determine how the gene is actually expressed in your body, and the MTHFR gene is no exception. 

When you get your genetic test report, the two SNPs associated with MTHFR are: MTHFR C677T and MTHFR A1298C. I’ll give you the simplified version below, but if you want a more in-depth explanation, this article does a great job.

What is MTHFR C677T?

If you see AA, you have two copies of the variant (mutated) allele, which leads to an 80% reduction in the activity of the MTHFR enzyme. If you see AG, you have one variant allele and one “normal” allele and a 40% reduction in MTHFR enzyme activity. If you see GG both alleles are normal and your MTHFR enzyme works just fine.

What is MTHFR A1298C?

For A1298C, I can’t give you specific numbers. If you see GG (two copies of the variant allele) or GT (one copy of the variant allele) you will have some reduction in MTHFR enzyme activity. If you see TT (just like the GG I mentioned above) both alleles are normal and your MTHFR enzyme is able to do its job.

I’m still confused. Is there anything else I can do?

If you are interested in other genetic mutations and are looking for help interpreting your tests, I recommend asking your doctor to order a test through DNA Life. Because genetic SNPs are hard even for doctors to understand, I tell clients to use Strategene to analyze the results. 

How is MTHFR Treated?

Not only will Strategene help with interpretation, but you’ll get actionable, customized lifestyle tips for your particular DNA. For general tips on treating MTHFR, check out my post on 6 Simple Things to do if You Have MTHFR!

Next steps if you have the gene mutation

I cannot say it enough: work with a practitioner. With so much information available on the internet, we often forget that there are experts on chronic illness who are trained to recognize contributing factors and help you navigate health challenges. 

Working with a practitioner may seem unnecessary or expensive when you have Dr. Google to turn to, but in the long run it will likely save you from tons of unnecessary tests and supplements.

Get started now:

Lucky for you, with just a few small tweaks, you can cope easily with MTHFR. Even luckier, I already have a blog post explaining what these are. Once you’ve implemented these tweaks, you may also want to look into my detoxification program, which is designed to be a slow, step-by-step guide to detoxing your life without feeling overwhelmed by the changes.

Anne is a certified Integrative Nutritional Health Coach and Interior Designer who is passionate about whole home and body detox, as well as personalized nutritional therapies tailored to the individual. She's the creator of several online programs and ebooks including Ditch Your Nutritionist, Autoimmune Accomplice, and Detox Your Life.

When she's not creating content for her wellness business and website Grass Fed Salsa, you can find her snuggled up to her daughter GG, her husband James, and their pups Cohen and Kiki.

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