Ready to decode your MTHFR Genetic SNPs?
Don’t forget to join our mailing list and get an amazing FREE EBOOK
So what is MTHFR?
So “MTHFR” is an abbreviation for a really long techy term called methylenetetrahydrofolate reductase. MTHFR pathway provides instructions to make methylenetetrahydrofolate reductase. This is one of the most talked-about genetic pathways on the internet because it affects so many people of all ages. It might look like one of my more favorite curse words, just kidding here, but it actually refers to a relatively common genetic mutation.
The reason MTHFR is so popular is that may lead to high levels of homocysteine in the blood and low levels of folate which can really alter the way you feel. In simple terms it affects your bodies ability to metabolize folate and folic acid. Both of these forms of vitamin B9 which are required for numerous critical bodily functions. Methylenetetrahydrofolate reductase plays a central role in converting folate into the active form that is found circulating in your blood. This form of folate is then utilized in the process of lowering homocysteine levels in your body. That is why we started this blog with the implications on homocysteine and just how important your levels are in testing can show how your MTHFR gene is working or lack thereof. If you have high homocystenine levels these symptoms will occur and could be from a non-working MTHFR SNP.
This pathway also has catalytic activity with NAD production, needs a an important cofactor of vitamin B2 and has the ability to regulate the enzyme activity of SAMe (s-adenosyl methionine). The MTHFR SNP is a crutial part of the methalyation cycle in the body so lets dive into the details below.
How to test for MTHFR?
So this can be really easy or really hard. The simplest way to test for this is to go over to my trusted place for all things gene-related, 23 & Me. Get your test results online and request for the raw data from their site. Then plug that information into a genetic software that will interpret the findings and easily show your results like mine below. I personally use and trust Sterling Hill’s MTHFR support. I had the pleasure of working with her and she is stellar at genes.
Secondly, you can also get a homocysteine test from your provider. This is the older method and broader form of testing and diagnosing but essentially will clue you in on how your MTHFR pathway is working in the methylation cycle. You want to see your results at the 6-8 level and this is verified with many MTHFR knowledgable doctors. Any less or more your MTHFR pathway could be off and further investigation is warranted.
How to get a genetic test
The easiest way to test in my opinion is to go to 23&ME and order a test kit. Some insurance companies will even reimburse you for this test which the out of pocket expanse is under $100 at the moment. Once you get the test results delivered log into your 23&me account and from the user interface click get raw results or data *SEE IMAGE BELOW. Once you get the raw data which will be a text file visit mthfrsupport.com and goto the sterling app *SEE IMAGE BELOW. Then run the data through the app to get a detailed DNA analysis for your personalized results to see your genetic SNP's.
Symptoms of a “dirty” MTHFR
Symptoms can show up differently in many people. Depending on the variant of the MTHFR pathway. There is currently a lot of ongoing research in the field of genetics. Dr. Ben Lynch has written a book on the topic with in-depth information on the topic. Please join our mail list to get a copy of this amazing book below
So some of the issues below you may not have attributed to this MTHFR SNP. But this pathway could be adding to your issues without you knowing. That is why testing is so important.
Some better know conditions affected by this MTHFR pathway are:
- some cardiovascular issues
- depress and anxiety
- bipolar disorder
- colon cancers
- nerve pains
- bladder cancer
- joint or muscle pains
- For more see here
Common MTHFR types
Lets look at some homozygous and heterozygous gene SNPs;
You can have one or two mutations in a certain pathway or none at all. I personally have multiple pathway variants myself and you can see my results below. The mutations are called variants of that gene. These variants can differ from person to person but symptoms will show somewhat similarly. Below let us look at the differences in the genotypes.
– means same; – means having genetic material.
Something that is has two of the same allele.
– means different; – means having genetic material.
Something that is has two different alleles. The different expressions of a gene are called alleles.
For example, you and another person both have a gene for hair. However, you might have different alleles if you have different hair colors. While both genes make hair, different alleles could result in brown, red, blonde, or black hair. If your parents both have brown hair, then you might inherit brown hair alleles from both of them. Since you would have two of the same brown hair alleles, you would be homozygous for that trait.If one parent is blonde while the other has brown hair, you might inherit one blonde and one brown hair allele. Since you would have two different alleles, you would be heterozygous for that trait. (3)
Specific variants are:
- C677T. About 30 to 40 percent of the American population may have a mutation at gene position C677T.
- A1298C. This gene mutation is not as popular as the other variant but is still relevant.
- It’s also possible to acquire both C677T and A1298C mutations, which is one copy of each.
As you can see from my results I have one of the major gene variants and also some minor ones as well. More on what I personally do with my results and what MTHFR’s Sterling Hill has instructed me to do are below.
Potential Dietary Changes To Help
If you know that you feel better when you eat dark leafy greens, then this is a sign for you. That means your body is craving the folate in those food items like spinach or kale. I always caution people with issues to oxalates, a plant compound that causes digest irritability. However, if leafy greens disrupt your gut and you have proven you need support due to having a blocked MTHFR gene then see the supplements below. I personally have an issue with eating to many leafy greens due to oxalates but I do eat them every day to start my methylation cycle by triggering it with the folates in food. Eating a well rounded whole foods primarily plant-based diet can assist in this pathway.
Supplements To The Rescue
I know in today’s world popping a pill is so easy. However, if eating more greens if leaving your symptoms unchanged then let’s add a supplement. I want to emphasize that you do not want FOLIC ACID supplements, check your multivitamin and if it has this form throw it out. Why get rid of folic acid? Well, your body can not convert folic acid to the bioactive form which is what you need. I personally have tried 5-methyl-tetrahydrofolate (5-MTHF) supplement and it worked for me for a bit until it did not and that is because of another gene SNP I have, more on that later. Using 5-MTHF supplement can be a game-changer for you to activate the pathway and start getting things moving again in the methylation cycle. Other really important supplements that work in harmony with the 5-MTHF supplement
Lets Recap On What Needs To Be Done
So if your MTHF pathway is acting up or you were born with this variant here is what needs to be done to help your body perform better and methylate.
- Get Folic Acid out of your life (supplements, drinks and foods)
- Drink high quality filtered water with no fluoride or chlorine or metals.
- Eat leafy greens
- Make sure you are getting enough b12 in your diet or supplement
- Take 5-MTHF if you need additional support
- Stay away from dairy and soy this can only trigger autoimmune issues and can act symptomatically the same as a nonfunctioning MTHFR pathway. Consult with your doctor on this as well.
Other Gene SNPs that can affect MTHFR
I personally have
- COMT V158M/H62H +/+ with VDR & Bsm -/- **folate from food is reasonable for me**.
So having these other issues If I get to many methyl donors in my system it will really mess with my neurotransmitter status and tank my dopamine. So the workaround for me personally is to supplement 1x-2x a week with the methyl form of folate a week if I do not eat enough greens and supplement with another form of B12 called Adenosyl/Hydroxy B12
There is a study showing the interaction between the two gene SNPs. I consulted with Sterling Hill from mthfrsupport.com on my genes and she recommended such actions for me. If you would like to consult with here please see here site. The study shows correlation of these two SNPs to confirm her advice. (4)
- Moll S. Homocysteine. Retrieved December 15, 2004, at http://www.fvleiden.org/ask/77.htmlGoogle Scholar
- Shanna Anderson, K., 2020. Anxiety And Methylenetetrahydrofolate Reductase Mutation Treated With S-Adenosyl Methionine And Methylated B Vitamins. [online] PubMed Central (PMC). Available at: <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898281/> [Accessed 18 March 2020].
- expii. 2020. Heterozygous Vs. Homozygous – Expii. [online] Available at: <https://www.expii.com/t/heterozygous-vs-homozygous-10433> [Accessed 18 March 2020].
- ncbi. 2020. Possible Interaction Of MTHFR & COMT. [online] Available at: <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351536/> [Accessed 18 March 2020].