If you thought MTHFR looked like an abbreviation for a dirty word…you could be right (at least according to people who deal with the MTHFR mutation). Mutations in this gene affect a large number of people and can cause a wide variety of health problems, some related to your oral health.
Undiagnosed MTHFR mutations may lead to any number of these problems (and more):
- Gum disease
- Tooth decay
- Heart problems
- Mood disorders
- Chronic pain
- All-body inflammation
It’s essential to get tested for this mutation if you have MTHFR-associated symptoms.
Fortunately, having this gene mutation isn’t as scary as it might sound at first. Simple changes to your diet and lifestyle habits can go a long way in reducing the impact of MTHFR mutations.
Let’s take a deeper look at what this mutation is, how it may impact your oral health, and what to do about it.
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What is the MTHFR gene?
MTHFR stands for methylenetetrahydrofolate reductase. This gene is responsible for processing amino acids—the building blocks of proteins. Sometimes, mutations in this gene can lead to impaired function or complete inactivation of the protein it codes for. What happens when mutations occur in the MTHFR gene?
Mutations in the DNA sequence of the MTHFR gene affect its function, limiting its ability to process an amino acid called homocysteine. Homocysteine, in turn, affects the ability of our bodies to convert vitamin B12 and folate (methylcobalamin and methylfolate) into forms the body can utilize.
That’s not good, because the body needs methylcobalamin and methylfolate to make the compound glutathione. Glutathione is a major antioxidant your body produces in order to fight oxidative stress and reduce your risk for chronic disease. It’s one of the few antioxidants made by your body, not just found in your food.
We’ll get into the role of glutathione in the body below.
MTHFR Gene Variants & MTHFR Statistics
There are two variants of the MTHFR genetic mutation, called C677T and A1298C, that have a negative impact on your health.
What percentage of the population has an MTHFR mutation?
Parents each pass one copy of every gene to their children (in the form of paternal and maternal alleles). If both parents possess the same MTHFR mutation and also pass that specific allele to their offspring, then this child would have what is called a homozygous mutation. Or, rather, both copies of their MTHFR gene is mutated.
In America, roughly 25% of Hispanic people and 10-15% of Caucasian people have two copies of C677T, whereas this genotype is least common (6%) in individuals of African descent. 20% may have MTHFR A1298C.
It is possible to carry both C677T and A1298C, and in these cases the outcome is similar to an individual that is homozygous for the C677T variant.
All these science terms got your eyes crossing? Take a break and look at this puppy:
Now, back to your regularly scheduled science.
MTHFR + Detoxification
Your body’s built-in dexotifier system (primarily the liver, but other organs, too) works great for most people. Our bodies are very skilled at clearing the bloodstream of chemicals and heavy metals that we’re exposed to on a daily basis.
But MTHFR mutations can change that.
Because mutations in the MTHFR gene disrupt the body’s ability to process vitamin B12 and folate (vitamin B9), they impair one of more of your “nutritional pathways.” Put simply, that means they stop some of the nutrition you consume from being used the way it normally would be.
As I mentioned, people with an MTHFR mutations won’t produce optimal glutathione. That’s because B12 and folate are considered “methylation nutrients,” which are some of the most necessary to produce glutathione. Without glutathione, your natural detoxification process is severely limited.
The genetic variant you have plays a significant role in how well your body can detox.
If you have one mutated allele of C677T, your body can detox at a level of 60% of the normal rate. With two mutations of C677T, your body can only detox at a level of 30%.
If you have one mutation of the A1298C, your body will be able to detox at 80%; however, two mutations of the A1298C will only detox at a level of 60%.
One mutation of each C677T and A1298C results in a detox rate of only 30%.
If your body is unable to detox harsh chemicals, heavy metals, and free radicals that cause oxidative stress, those compounds aren’t leaving your system. Instead, they’re setting up shop to wreak havoc on your body, which leads to illness and autoimmune disorders.
Methylation with an MTHFR Mutation
The term “methylation” refers to a process of epigenetics that determines which of your genes are expressed (whether they’re turned on or off).
Methylation is what, for instance, allows a person to carry a gene that triggers cancer without ever actually getting the disease. That’s a super simplified example, but it’s a lot more complicated than that in reality. If you want to know more about this process, check out this article.
Methylation functions include:
- Turning genetic markers on and off
- Detoxing heavy metals and chemicals
- Building and metabolizing neurotransmitters
- Building immunity
- Processing hormones properly (especially estrogen)
- Producing viable energy
- Building and maintaining cell membranes
- DNA synthesis
- Other complex functions
Two of the compounds affected by MTHFR mutations (B12 and folate) are both affected by the methylation process. Not metabolizing them well can result in a complicated mix of limited methylation functions.
The Impact of MTHFR Mutations on Chronic Disease
Carrying mutations in MTHFR limits the body’s natural ability to produce glutathione, and without enough glutathione, the cells in our bodies are more likely to undergo many types of damage. Why? Because reactive oxygen species (ROS, also called free radicals) are doing more damage than your body can keep up with.
Here’s an example of how this might impact your life:
Imagine you have a family history of a particular type of genetic disease, and you also have one or more MTHFR mutations. Because your body isn’t producing enough glutathione, and therefore is not properly detoxing, there is a build-up of toxic compounds that cause oxidative damage to your DNA and to your cells.
Then, some of these chemicals or free radicals may directly damage the DNA or cells already sensitive to a disease state because of your family history. This makes you more likely to develop those genetic diseases.
When your MTHFR deficiency is under control as you take the proper steps for a healthier lifestyle, you’re less likely to accumulate the additional genetic and cellular damage that leads to disease. That means you can reduce your risk for many chronic diseases by implementing changes like:
- More or less of certain foods
- Regular exercise
- Mental health practices
- Detox protocols
- Supplements downstream of the MTHFR pathway
Top MTHFR deficiency indicators: Could you have this mutation?
The MTHFR mutation isn’t associated directly with one disease in every person who has it. However, there are several symptoms that may result from the compromised methylation in people with MTHFR deficiency.
It’s important to note here that the body of research on this topic is still evolving, and therefore some of the findings are inconsistent. This area of study is still new, so it’s important to look at the new evidence that comes out as more work is done, and also to consider the current broader conclusions of the scientific and medical communities.
There are many possible symptoms of MTHFR deficiency and related conditions, but some of them include:
- Cardiovascular and thromboembolic diseases (specifically blood clots, stroke, embolism, and heart attacks) (1)
- Depression (2)
- Bipolar disorder
- Schizophrenia (3)
- Colon cancer (4)
- Acute leukemia (5)
- Chronic fatigue (6)
- Inflammation (7)
- Multiple sclerosis (8)
- Diabetic neuropathy (nerve pain) (9)
- Migraines (10)
- Recurrent miscarriages (research here is somewhat conflicting) (11, 12, 13, 14, 15, 16, 17)
- Neural tube defects (18)
- PCOS complications (19)
- Homocystinuria—This is a disorder where the body is unable to process homocysteine and methionine properly. Having homocystinuria may lead to eye problems, abnormal blood clotting, skeletal abnormalities, and cognitive problems. (20)
- Age-related hearing loss (21)
- Spina bifida (22)
- Trisomy 21 (23)
The specific genetic variant of the MTHFR gene you have will determine which symptoms you might exhibit. The severity of symptoms varies in everyone and are still somewhat unclear.
MTHFR and Your Oral Health
So, what’s the link between the MTHFR mutation and teeth? Homocysteine metabolism is important in the processing of folate, and folate is essential for proper midline development. If your body isn’t able to turn folate into a usable form, midline defects can happen, even as early as birth.
- Lip and tongue ties
- Cleft lip
- Stork bites (red mark on the back of the neck)
- Sugar bugs (prominent blue vein on the nose)
- Sacral dimples (one or more bumps at the base of the spine)
While there are no studies that exist with a positive correlation of MTHFR and these midline defects, there are studies of elevated homocysteine levels being linked to cavities.
According to studies on NCBI, higher plasma homocysteine levels are apparent in chronic gum disease (periodontitis) (26).
Additionally, this can impact what type of dental work you have done. Some dentists and doctors recommend those who have MTHFR mutations to get their amalgam fillings removed. Dental amalgam is a mixture of metals consisting of liquid (elemental) mercury and a powdered alloy composed of silver, tin, and copper.
We already know the rate at which the body can detox heavy metals and chemicals with each mutation. In healthy patients, this detox rate should be far more than the mercury s/he is exposed to from an amalgam dental filling.
However, since those with an MTHFR mutation struggle to detox properly, amalgam fillings can be more problematic.
How to Test for MTHFR Mutations
Is there such a thing as an MTHFR test? Yes! With a simple saliva test to a genetics lab, you can find out if you have one or more MTHFR mutations. The simplest and fastest way is to order a cheek swab home testing kit from MTHFRdoctors.com.
These tests are beneficial for finding genetic predispositions to certain diseases. They can also give you vital information about the next steps to optimal health with diet and lifestyle changes, as well as supplements to take.
The 23andMe saliva test is also a great starting point; however, it may take two to three months to get the results. When you get your results, you can link your account details with a free program called Genetic Genie to get a closer look at your methylation and detox profiles.
For a more in-depth look at what’s going on, you can upload your 23andMe raw data to MTHFRdoctors.com. They have an array of genetic health reports from as low as $29.99 that give information ranging from methylation, to mutations you have for specific health conditions and even the BRCA genes panel for breast cancer.
Another option is Metabolic Healing, which costs $29. They will provide you with an extensive overview of how your mutations are affecting many aspects of your physiology from gastrointestinal health to brain health to detoxification, methylation, and mitochondrial genetics, as well as a plethora of other information.
Other tests to check for MTHFR gene mutations are available. For example, DNA Life is a great option that measures Single Nucleotide Polymorphisms for the MTHFR genes C677T & A1298C.
You may also want to ask your doctor about testing your homocysteine levels. Higher homocysteine levels indicate you may carry one of these mutations. Low homocysteine levels indicate low or over-methylation, which also impacts your health significantly. A good read on your homocysteine levels should be somewhere between 6-9 umol/L.
What to Do If You Have the MTHFR Mutation
If you think you are having symptoms of MTHFR deficiency, talk to your doctor.
The NIH Genetic Testing Registry (GTR) displays genetic tests that are currently available for the MTHFR gene and for homocysteinemia due to MTHFR deficiency. You can check out more details here and here.
Biochemical genetic tests may also be used, which assess the level of activity of the MTHFR enzyme or the level of analyte in the blood. GTR provides a list of biochemical tests that assess the level of homocysteine analytes and the activity of the MTHFR enzyme.
Regardless of whether or not you have it, symptoms shouldn’t go unnoticed or swept under the rug.
If you are diagnosed with a variant of the MTHFR gene that negatively impacts your health, it doesn’t mean you need medical treatment. However, there are nutritional and lifestyle changes that may be very useful in reducing your risk for complications from this MTHFR deficiency.
First, I would recommend seeing a functional dentist about having amalgam fillings removed, since it’s unclear if the reduced ability to detox heavy metals and chemicals impacts mercury bioaccumulation. I’ve outlined where you can look for a functional dentist here.
Nutritionally, the number one thing you can do if you have an MTHFR mutation is to eat more leafy greens, which contain folate, and foods high in vitamin B12. B12 is found mostly in animal products (sorry, vegans!). You can also choose to take a supplement with folate and B12, but be sure to get the methylated versions, as these are ready for your body to use without additional methylation.
Your doctor may also mention a choline supplement, which is a water-soluble vitamin necessary for neurotransmitter synthesis while playing a massive role in cell structure and metabolism. It aids in keeping your liver functioning properly, as well as your brain and nervous system.
If you are deficient in choline, it could severely impact your liver and possibly contribute to other neurological disorders. (28)
Keep in mind that supplements are meant to do just that: supplement. An MTHFR mutation means you need to strongly consider your dietary choices in order to stay healthy for longer.
Your doctor will probably discuss taking preventative measures to keep your MTHFR deficiency under control by way of diet and lifestyle choices that lower homocysteine levels, which reduces oxidative stress within the body. (29)
Quitting smoking, eating an MTHFR-friendly diet (focusing on foods rich in Folate, vitamin B, and choline), and working to come up with a movement regimen are a great starting point.
Another major part of having an MTHFR mutation is being limited in your natural ability to detox. Because of this, getting rid of common household toxins, which the body may normally handle with no problem, is a good idea for people with this issue.
Here are a few great resources what to try when you rid your home of toxins:
- The Best Natural Toothpastes
- Find and Use Safe Dental Floss
- The Best Natural Cleaning Products
- The Best Green Laundry Products
- Best Natural & Organic Makeup Brands
- Non-Toxic Personal Care Products
- Non-Toxic Cookware Brands
- 20 Switches to Get Plastic Out of Your Life
Common Questions about MTHFR
What supplements should I take for MTHFR?
Try a bioavailable form of folate (not to be confused with synthetic folic acid) called methylated folate, as well as a methylated B vitamin. Consider talking to your doctor about choline, vitamins B12 and B6, or riboflavin (if they aren’t included in the methylated B vitamin).
Is MTHFR deficiency an autoimmune disorder?
Key Takeaways: The MTHFR Mutation
The MTHFR gene variants control the way your body’s methylation and detoxification processes function. A mutation of either or both MTHFR variant can slow down these processes and potentially lead to problems with dental health and many other areas of health.
It can seem overwhelming when you first find out you have an MTHFR gene mutation, but it doesn’t have to be. Here are some simple steps that are easy and affordable to get you to start feeling your best.
- First and foremost, talk to your doctor or an MTHFR practitioner
- Get amalgam fillings removed
- Create an MTHFR-friendly diet plan
- Make an exercise regimen (this doesn’t mean you have to sign up for a gym membership, just start to move your body)
- Supplement with a methylated B vitamin and a methylated folate
Once you have these down and a part of your routine you can slowly start making other subtle changes to living a low-toxin lifestyle to keep your MTHFR under control. These can include ridding your home of toxic chemicals and endocrine disruptors that you find in some cleaning products, shampoos, and even makeup.Read Next: Boost Your Nutrition With These 6 Supplements to Heal Cavities
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- Bjelland, I., Tell, G. S., Vollset, S. E., Refsum, H., & Ueland, P. M. (2003). Folate, vitamin B12, homocysteine, and the MTHFR 677C→ T polymorphism in anxiety and depression: the Hordaland Homocysteine Study. Archives of general psychiatry, 60(6), 618-626. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/12796225
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- Lundell, K., Qazi, S., Eddy, L., & Uckun, F. M. (2006). Clinical activity of folinic acid in patients with chronic fatigue syndrome. Arzneimittelforschung, 56(06), 399-404. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/16889122
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- Alatab, S., Hossein-nezhad, A., Mirzaei, K., Mokhtari, F., Shariati, G., & Najmafshar, A. (2011). Inflammatory profile, age of onset, and the MTHFR polymorphism in patients with multiple sclerosis. Journal of molecular neuroscience, 44(1), 6-11. Full text: https://www.researchgate.net/profile/Sudabeh_Alatab/publication/4971345
- Wu, S., Han, Y., Hu, Q., Zhang, X., Cui, G., Li, Z., & Guan, Y. (2017). Effects of common polymorphisms in the MTHFR and ACE genes on diabetic peripheral neuropathy progression: a meta-analysis. Molecular neurobiology, 54(4), 2435-2444. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/26971290
- Liu, A., Menon, S., Colson, N. J., Quinlan, S., Cox, H., Peterson, M., … & Griffiths, L. R. (2010). Analysis of the MTHFR C677T variant with migraine phenotypes. BMC research notes, 3(1), 213. Full text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2919563/
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