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Do I have an MTHFR mutation? Here’s how to find out

MTHFR Mutation Test

Summary: Everyone has an MTHFR gene in one form or another. An MTHFR “mutation” means you inherited an MTHFR variant associated with a decreased ability to metabolize folic acid and folate.

In some cases, people with MTHFR mutations benefit from supplementing with methylfolate, which is the “bioactive” form of folate. This “gets around” the problems they have with folic acid in particular.

To find out whether MTHFR should be on your radar, you can take raw data from 23andme, or another provider like Ancestry, and upload the data to our site as part of a custom nutrition plan. Your nutrition plan will not only tell you your MTHFR status, it will give you a full methylation analysis as well as a diet type outlining how your body handles fat, carbohydrate, histamine, and more. With that sales pitch out of the way, you can also find out MTHFR status for from a site like Genetic Genie. Genetic Genie can help you determine whether you have one copy, or two copies of either MTHFR C677T, or MTHFR A1298C, the “mutant” versions of the gene.

My MTHFR Story

If you have an MTHFR “mutation,” you could be less effective at getting your body the nutrients it needs to repair DNA.

This can affect you in ways you might not have considered.

For example, I have a heterozygous A1298C MTHFR mutation, the MTHFR allele linked to cognitive function.

Methyl folate is a co-factor for BH4 (Tetrahydrobiopterin) production, a chemical responsible for creating “feel good” neurotransmitters in the brain. I felt immediate cognitive effects by supplementing with methylfolate shots.

Now, in full disclosure, I received the maximum benefit after adding methylfolate, and other B vitamins, into my supplement regimen after many years of depleted levels. With one MTHFR SNP and an MTRR SNP, combined with too many years of living an unhealthy lifestyle in New York City, my B vitamin levels were low. Methylfolate supplements helped tremendously. I can remember taking a client call immediately after taking a B vitamin and methylfolate shot. It felt like the full expanse of my mind had been opened to me. Every word and phrase was right where I wanted it.

See also: Are curcumin’s health benefits proven by human studies?

Now that I take better care of myself, I don’t need as much methyl folate (and most methyl donor supplements aren’t meant to be taken at very high doses indefinitely), but the initial doses, especially after a prolonged period of stress, drinking and eating out a lot in NYC, made a world of difference.

How do you know whether you have an MTHFR mutation?

You start by ordering a 23andme kit, or genetic labs from another provider. 23andme is probably the easiest option, requiring customers to drop a saliva sample in the mail. However, don’t assume getting actionable genetic information from 23andme will be easy. 23andme is restricted by law from giving you some health related information about your genetics, which means you’ll need to download the raw data and take it to a 3rd party.

Here’s how you can do that. 

Once you’ve received your 23andme report, go to the “Tools” section of 23andme’s dashboard, and get your raw data.

Download and save.

Step #1

23andme-tools-section-for-raw-data

Step #2

Under Tools, 23andme has a drop down menu. Select “raw data.” You will then land on this page.

You want to download your raw data.

Step #3

23andme will now bring you to this screen, which allows you to request that your raw data be emailed to you.

request raw data 23andme

Now that you have your raw data, you can visit a site like Genetic Genie, which will take your raw 23andme data and give you a read out of your methylation genes, including MTHFR.

To make sense of the data you receive, it’s important to remember that MTHFR is the core gene, but within MTHFR, there are different alleles, or options, for the gene to express itself. You’re looking to see whether you have the alleles associated with methylation problems. 

For a quick rundown on the difference between a gene and an allele, check out this video. 

The MTHFR Mutations

The common “mutations” for MTHFR are C677T (linked to heart health) and A1298C (linked to cognitive function). These are types of MTHFR genes. 

Just like there are different types of Ford cars, there are different types of MTHFR genes. The numbers 677 and 1298 represent the base sequence, while the letter represents the allele. The Genetic Genie test is setup to hunt for the presence of alleles linked to diminished methylation performance. For example, everyone has MTHFR 677, but not everyone has the C677T gene, which is the mutated form of C677C, the “normal” allele. Some have the mutation on one side (heterozygous), others on both (homozygous).

Genetic Genie’s methylation analysis lists both MTHFR C677T as well as A1298C. If the line is yellow, you have one copy of the variant for that allele, if the line is red, both copies of the variant are present. If the line is green, you have the normal variant, called normal because it is associated with stronger methylation function. 

See also: Activating the all important Nrf2 pathway using nutrition

As I mentioned above, I have one copy of the A1298C MTHFR mutation. This is what my Genetic Genie report looked like for that line.

A1298C heterozygous

MTHFR mutations do not equal zero function

It’s also important to understand that changes in the base sequence (from cytosine to thymine as with C677T) represent a diminished methylation ability, not zero methylation ability. In other words, even those with copies of the mutant allele, there is still function, and that function can be influenced by epigentic lifestyle factors. 

To quote Genetic Genie:

Although we cannot change our genetic code, we can change how our genes are expressed. Research has revealed that our gene expression is not determined solely by hereditary factors, but it is also influenced by our diet, nutritional status, toxic load and environmental influences or stressors. This phenomenon has been termed “epigenetics”. Researchers in the growing field of epigenetics have demonstrated that certain genes can be over- or under-expressed with certain disease processes.

Epigentics explains why supplementing with methyl folate was so helpful for me after a long stint in New York City. Even a slight decrease in methylation function could be exacerbated by the typical high stress, high alcohol, high caffeine NYC life.

Those with homozygous (two copies of the “mutated gene”) can usually benefit even more from supplementing with methyl folate, vitamin B2 and other B vitamins.

John O'Connor

John O'Connor is the founder of Gene Food and an Integrative Health Coach, trained at Duke IM. He lives in Austin, Texas.

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  1. Rosemary says:

    Thanks for the article. I am homozygous for 1298C and have sent in my 23andme sample to find out any other SNPs I might need to know about.

    Do you know anyone in Austin who is good at interpreting 23andme genetic data? Any other sites through which it would be good to upload the data?

    Rosemary
    Austin

    • Rosemary, Livewello is a valuable platform for interpreting genetic data in our opinion. If you’re looking for help with nutritional advice, we can assist with that, if you’re looking for medical diagnostics, I don’t know of a place in Austin that I’d recommend. There are some functional medicine docs who claim to be able to interpret genetic data, but I think the medical community is a ways away from coherent and reliable analysis.

    • Martin Evans says:

      Rosemary,

      Dr. Philip Oubre, MD is a functional medicine doctor in Austin who can interpret 23andMe genetic data. In fact, he sells the 23andMe kits in his office at a marked up price, but recommends that you simply order direct from 23andMe to save some money.

  2. Aubrey franklin says:

    My sister has both copies of the mthfr gene and I would like to know if I have the same mutations. I would like to order the 23 and me but I’m confused whether I should order the $99 version or the $199 version if I just need to raw data to find out about the mthfr genes. Please help!

  3. VeenaW says:

    Edited version:
    I just got some lab work back, my B12 level is 1340
    Ive been taking the supplement of active b12(1000mcg + L-5-Methyl-folate(800mcg)
    but also know that the Prenatal D3 I take has folic acid in it at 800mcg.
    I wasn’t consistent daily with either pill before having the blood work done, yet the number is very high.
    I do have HypoThyroid and general issues that come with it. Also had my GGT test done same time and it came back as
    15 u/l . Past 6 months I’ve been pretty good about doing a no sugar, no gluten , no dairy or inflammatory foods. Do you think my high number indicates i don’t handle b12 well?

  4. Denise says:

    So, to clarify what does the +/- result mean?

    Does that mean you have the gene or that you are a carrier? My report came back for both and they were A/G and G/T

  5. Laura Clayton says:

    Hi, I was looking up Information on tongue tie and found my way here. I suffer poor health but the reason why is unknown. I’ve always had bad joints & pain, depression and anxiety and chronic fatigue, lack of concentration and forgetfulness and often I can’t think my brain feels clouded in fog. I was wandering if and how I would go about finding out what may be wrong with me and also how I could make things better. Originally I was looking up tongue tie as my daughter has one but coming across this and different effects and causes has made me think about my own health. Sorry I may not be making a lot of sense its all a lot to take in and I’m not very good at processing information and taking new things in.
    Cheers
    Laura

  6. Megan says:

    When I get blood tests, my folate level is at the maximum level that they test for. I eat a fairly healthy diet that includes some fortified grains. I also suffer from fatigue and depression. Any insight on my situation?

    • Shannon says:

      Hey Megan, I would suggest getting tested for the HLA-DQ 2 and 8 gene. This test for the celiac gene. You can order it yourself from life extension. I work for a functional doctor and this is something she runs on nearly everyone. It does not necessary mean you have celiac disease but it could show your sensitivities. I recommend you find a functional doctor in general.

  7. Tricia says:

    I had some test ran and it came back as Gene MTHFR Genotype C/C (C677T); A/C (A1298C)
    I am having a hard time finding out exactly what this means. Do I have two mutated Genotypes?
    My vitamin B12 is on the low side and I am currently getting weekly injections for four weeks and then will got to once a month, due to the fact that I tried to take sublingual form and it sent me into a heightened anxiety.

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