MTHFR looks like an acronym for some dirty words, but actually it stands for methylenetetrahydrofolate reductase, which sounds even worse! It’s just an enzyme, but an important one.
When you eat folate, or Vitamin B9, in foods like spinach and other leafy greens, or you take a multivitamin or eat flour “enriched” with folic acid, your body has to convert that into a usable form. This process requires the enzyme MTHFR to convert folic acid and food folate into 5-methylenetetrahydrofolate (5-MTHF), the active form of folate.
Activated folate is required for the creation of every cell in your body. So if it is not activated properly, you can imagine what a significant issue it would be.
5-MTHF, along with several other nutrients, is also used to create and process neurotransmitters (messengers in the nervous system like serotonin, epinephrine, norepinephrine, and dopamine); create immune cells and process hormones (such as estrogen); as well as to produce energy and detoxify chemicals.
This process is called methylation. Pretty important stuff.
How does the Folate Conversion Process become Impaired?
Lots of things can inhibit this methylation process. Stress, environmental toxins, alcohol, medications like hormonal contraceptives, heavy metals and alcohol are some of the methylation inhibitors.
5-MTHF doesn’t work alone. Vitamins B2, B6, and B12 as well as cofactors like magnesium all help support the functioning of this pivotal cycle in the body.
But one of the factors that is not in our control with respect to methylation is what is known as the MTHFR polymorphism, a mutation in the gene. The MTHFR gene has two common mutation variants, A1298C and C677T.
- C677T – one bad copy (heterozygous) means your enzyme is functioning at 70% and two (homozygous) means you’re down to 30%. This mutation has been associated with cardiovascular and psychiatric symptoms.
- A1298C – this variant is estimated to reduce functioning 70% when both copies are mutated. This mutation has been implicated in the production of neurotransmitters and breakdown of ammonia.
What can Happen when MTHFR is Defective?
Homocysteine and Cardiovascular Disease
If folic acid can’t be converted into the usable form, it can build up in the body, which can raise levels of homocysteine. High homocysteine levels are associated with a higher risk of cardiovascular disease.
Glutathione and Detoxification
MTHFR mutations also affects the conversion to glutathione, which the body needs to remove waste and which is a potent antioxidant. This in turn leads to increased susceptibility to toxins, impaired detox capacity, increased susceptibility to infections because of the immune dysregulation that causes histamine intolerance.
Methylation defects are a very common cause of infertility and miscarriage and a whole array of other problems.
An MTHFR polymorphism can also make it more difficult to break down and eliminate other substances like heavy metals.
According to Chris Kresser, well-known functional medicine guru:
“Depending on the gene and the mutation, a homozygous mutation can be quite serious in some cases, like with familial hypercholesterolemia, a genetic mutation that leads to very high levels of cholesterol. If someone is homozygous, which means they have two copies of the mutated gene, they will often die in their 20s, if not before that, because they are completely unable to produce LDL receptors for their cells, which means they’re unable to clear LDL out of their circulation at all, and that leads to a very high LDL particle number, which leads to atherosclerosis, which leads to heart attack and death.
People who are heterozygous for that mutation tend to have very high total cholesterol levels, like over 300, 350, 400, even into the 500s.”
Depression, anxiety, schizophrenia, autism, and bipolar disorder are more common with those who have the MTHFR mutation, particularly the C677T variant.
How to Get Tested for MTHFR Defects
The mutation of this gene is not as rare as you think. Doctors who routinely test their patients for the MTHFR polymorphism find that few patients DON’T have this mutation.
Research into this genetic defect is in its infancy but more and more doctors recognize its importance. Your doctor may be able to order a lab test that may even be covered under your insurance. For me, my United Healthcare insurance plan covered the test through my doctor. And, btw, I am heterozygous for the C677T mutation.
But if your insurance doesn’t cover the lab test or your doctor is resistant to ordering it, there are options. You can order the test yourself through several labs at a reduced cost (Direct Labs, Ulta Lab Test, and DHA Labs). Contact me if you have questions.
A really cool tool available from 23andme is a saliva test available for $149. This report will give you the raw data about all of your 23 pairs of chromosomes. Not only is this information useful for DNA ancestry, but can be used for this single MTHFR purpose too. The raw data that you receive (in 6 to 8 weeks) must be analyzed into a report by places like GeneticGenie (free), LiveWello ($19.95), as well as others.
As well, a Hair Tissue Mineral Analysis will help reveal mineral levels and heavy metal loads that may be a result of this genetic defect. These tests are inexpensive, totally non-invasive and very helpful when developing a protocol.
How to Treat a MTHFR Polymorphism
We can’t change our genes (at least not yet–scary thought), but we can minimize the problems associated with defects. Work with a healthcare practitioner to test, treat and monitor your condition. Other tips include:
- Avoid supplements and foods containing folic acid–the man-made form of Vitamin B9.
- Avoid processed foods–particularly ones that are enriched with folic acid.
- Work with a practitioner to supplement with 5-MTHF (aka L-methylfolate) and include the important cofactors of Vitamin B12 (methylcobalamin, not cyanocobalamin), B6 (P5P aka pyridoxine), B2 (riboflavin), and Magnesium. An overload of these nutrients can be just as dangerous as a deficiency, so it’s important to work with a practitioner.
- Eat leafy greens–these foods are rich in natural folate.
- Reduce your exposure to toxic chemicals–cleaning products, personal care products, skincare and hair care products, pesticides, plastics, scented candles and deodorizers, and unfiltered drinking/bathing water.
- Detoxify regularly–see these tips to keep your toxin level in check.
- Focus on gut health–Eat a nutrient-dense, whole food diet. Avoid food allergens, eat fermented foods and probiotics, use these cooking oils and avoid these oils, avoid refined sugar and artificial sweeteners.
Here’s your simple change for the day: Test yourself for the MTHFR genetic defect and improve your methylation pathways.
Breakthrough Depression Solution, Dr. James M. Greenblatt, 2016
A Mind of Your Own, Dr. Kelly Brogan, 2016
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Joli Tripp and Simple Changes Healthy Results are not medical doctors nor licensed medical professionals. No comment or recommendation should be construed as being a medical diagnosis. If you suffer from a medical or pathological condition, you should consult an appropriate healthcare provider.
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