How to Test for MTHFR Mutations and What to Do if You Have Them
July 1st, 2020
In my Part I of MTHFR mutations, I discussed what they are, why they matter, and how they’re connected to autoimmune disease, Hashimoto’s, Graves’, and thyroid dysfunction.
In this article, we dive right into how to test for MTHFR mutations. Most importantly, we discuss what you can do to minimize the impact of any MTHFR mutations on your health. This information, in addition to my top recommendation for anyone with the MTHFR mutation, Methylation Support®, will help you support your methylation and detoxification pathways.
My motto is knowledge is power, and understanding your MTHFR status is an empowering tool to take back your health!
How To Test for MTHFR Mutations?
I strongly recommend that everyone gets tested for MTHFR mutations, especially women of childbearing age. MTHFR has been found to increase the risk of miscarriage and birth defects, including Spina Bifida. It is equally important if you have a history of Hashimoto’s, Graves’ or any other autoimmune disease, as MTHFR contributes to those conditions as well.
Additionally, I encourage those who have newborns or young children to have them tested for MTHFR mutations. Determining which vaccines your child receives and when they receive them is a personal choice. Knowing your child’s MTHFR status, and how the vaccines may impact their health, is an important part of the decision. As a mother, testing Elle for MTHFR was high on my priority list.
This theoretical illustration of how MTHFR mutations affect your ability to detoxify demonstrates why it is so important for you to know your MTHFR status.
Lab testing to check for MTHFR mutations used to be costly, and required a prescription and a blood sample. However, genetic testing is now much more affordable, accessible, and convenient.
There is a test from 23andMe which can be ordered online that many of the patients from my clinic used. 23andMe is an option that does not require a physician’s prescription, and it tests for hundreds of SNPs.
Unfortunately, 23andMe results come in a raw data format. This means you need another tool or service to get a readout of your MTHFR status and the other SNPs they test for.
I discovered a company called dnalife® that offers genetic SNP testing with just a mouth swab instead of saliva samples (which is much easier for babies—it’s what I used for Elle). The test checks for fewer SNPs than 23andme yet delivers all of the data in a format that you or your doctor can easily interpret. This option usually requires a functional medicine physician to order it for you.
As a favor to me, dnalife® agreed to let you order your own MTHFR test without a doctor’s order. If you want additional SNPs, you need to ask your functional medicine doctor to order that for you.
You, of course, can always ask your primary care physician to order an MTHFR blood test for you. Although, most insurance companies do not cover this and may leave you with an $800-$1,000 bill.
A less expensive option typically covered by insurance is that your doctor runs a homocysteine level for you. This option is less definitive, so the results are not as comprehensive.
As I mentioned earlier, the methylation process converts homocysteine into methionine. With one or more MTHFR mutations and a reduced ability to methylate, your body won’t be able to convert as much of it. This means you typically have high levels of homocysteine in your blood. High homocysteine is an indication of undermethylation, and low homocysteine can indicate either over or undermethylation.
High homocysteine levels can negatively impact mental health and mood. It linked to cardiovascular disease, high blood pressure, an inability to detoxify, and blood vessel damage.
An optimal homocysteine level is 6-9 umol/L. If someone’s homocysteine level is elevated above 10 umol/L, there is one mutation. If it is as high as 18 umol/L, there are likely two mutations. On the flip side of that, too low of a homocysteine level such as 2 or 4 umol/L can indicate that you are not methylating or you are over methylating. Both undermethylation and over methylation are problematic.
How to Overcome MTHFR Mutations
So you’ve discovered you have one or more MTHFR mutations, and you might be feeling as though your genes control your destiny. I get it, trust me, I do. I have two mutations at C677T, and my ability to methylate based on my genes cut down to 10%. It’s likely one of the reasons I developed Graves’disease. The truth is that by following the same simple steps I used, you too can work around your genes and get your body methylating in an optimal range.
1. Supplement with Pre-Methylated B Vitamins
MTHFR mutations reduce your ability to methylate, so one of the best things you can do is supplement with the three main vitamins needed for methylation. Folate in its pre-methylated form (5MTHF), B6 in its active form, and B12 in its active form.
I take a supplement called Methylation Support® every day. It contains all three of those essential B vitamins. I recommended this supplement to all of my patients with MTHFR mutations. These pre-methylated and active forms of the B vitamins are absorbed optimally, and work to increase folate levels and decrease homocysteine levels.
If you have one or more MTHFR mutations I recommend supplementing with Methylation Support™ daily.
I strongly recommend supplementing with Methylation Support® if you have been prescribed methotrexate as part of your treatment for autoimmunity because methotrexate blocks folate pathways. If you have two mutations, even with a supplement to support methylation, you may want to consider different medication. My 6-week Autoimmune Solution Program will also help you address the underlying causes of your condition, so you can come off of harsh medications altogether.
2. Avoid Folic Acid (Synthetic B Vitamins)
As a reminder, simply increasing your folic acid will not help with methylation issues because your body is not able to convert it. Taking folic acid, which is synthetic and can be found in fortified and processed foods, is harmful because it can stay in your body unconverted. The unconverted folic acid attaches itself to the same receptors used to absorb folate, and ‘clogs them up’ so to speak.
3. Eat Foods Rich in B Vitamins
Get plenty of B vitamins naturally through your diet. The highest folate-rich foods include asparagus, romaine lettuce, broccoli, avocado, and dark, leafy greens such as spinach and kale. Foods high in B6 include poultry, seafood, bananas, and leafy green vegetables. Add more vitamin B12 to your diet with fish, poultry, and meat.
However, if you have two mutations like me, diet alone may not get you enough B vitamins to methylate optimally, and you may want to consider supplementing with Methylation Support®.
4. Reduce Your Toxic Burden
Because MTHFR mutations reduce your ability to detoxify heavy metals, you want to minimize your exposure to toxins. Here are steps you can take to limit your exposure to heavy metals:
- Filter your air – Mercury can be in the air near coal-burning plants. Avoid breathing it in by using a HEPA filter in your home and office.
- Filter your water -Due to pollution and runoff, mercury can be found in our water supply. To protect your water I recommend installing water filters on all of your taps and showerheads. The skin absorbs chemicals too!
- Remove amalgam fillings safely – Amalgam fillings contain mercury and emit a mercury vapor that can leach into your bloodstream. For more information on the risks of amalgam fillings and how to remove them safely, check out my podcast episode with the biological dentist, Stuart Nunnally.
- Choose fish that are not high in mercury – The Environmental Defense Fund has a list of fish that are typically high in mercury and should be avoided. There is also a preferred list of those that are low in mercury.
5. Flush Out Toxins Safely
In addition to preventing toxins from coming into your body, focus on supporting your detox pathways to flush toxins out safely.
- Eat cruciferous vegetables – These vegetables, including arugula, broccoli, Brussel sprouts, and collard greens, are rich in antioxidants and support safe detoxification.
- Excrete the toxins – Drink plenty of water, optimize your digestion, and do activities that help you sweat, such as exercise or using an infrared sauna.
- Add in Glutathione – This is your body’s most important detoxifier, and it plays a big role in reducing your risk for developing an autoimmune disease. Your ability to produce glutathione diminishes if you are not methylating properly. I take this every day and recommended it to all of my patients with autoimmunity and MTHFR mutations.
- Take a Liver Support Supplement – The one I offer contains N-acetyl, L-cysteine, alpha-lipoic acid, milk thistle, and selenium. It supports antioxidant activity and promotes a healthy immune system. In addition, Liver Support helps your body’s glutathione production.
- Increase Your Magnesium – Magnesium supports the detoxification process through its major role in the production of energy as ATP. This provides cells with what they require to pump out toxins before, during, and after they accumulate.
- Don’t forget the Methylation Support® – As I mentioned above, you want to be sure you’re taking a methylation support supplement. This and glutathione are the two absolute go-to supplements that I take daily no matter what.
Remember knowledge is power, so knowing your MTHFR status and understanding what you can do about it is a huge first step in taking control of your health! Even if life dealt a certain genetic hand, remember the unlimited choices in how you play that hand.