by Dr. Will Cole
Genes are the specific instructions that make you who you are. They are sections of DNA, your body’s master manual, and at the latest estimate, there are around 20,000 genes in the human genome. But genes, like humans, are imperfect, and often have mutations or variations that can cause everything from eye color to hair curl to whether you can curl your tongue.
These mutations can also predispose you to certain health conditions and diseases, cause you to metabolize medications too quickly or too slowly, and mess with the way your body manages complex biochemical processes, including enzyme production.
One of those genes, called the MTHFR gene, can have a mutation that can specifically interfere with your ability to absorb certain vitamins and detox the body efficiently. About 40% of us have this mutation, myself included, and it can predispose you to health issues. Let’s look at what it’s all about, and especially, what you can do about it.
What in the world is a MTHFR?
What did you call me? Just kidding, MTHFR is not an expletive. The acronym that names this gene provides instructions for methylenetetrahydrofolate reductase, the enzyme used to convert folic acid (vitamin B9) into folate’s active form, methyl-folate (5MTHF). See why MTHFR is easier to say?
What’s not so easy is understanding how activated methyl-folate plays a key role in a biochemical process called methylation. Methylation is the powerhouse detoxification, production, and DNA protection system that almost every cell of your body depends on. It happens more than 1 billion times per second in your body to keep you alive and healthy, and so you can see why, if methylation is not working well, a lot can go wrong.
One of the ways methylation can become less efficient and effective is when you have an MTHFR gene mutation, because then your body doesn’t send all the instruction to make the important enzyme you need. Some research estimates that those of us with MTHFR changes make up to 70 percent less methyl-folate than those without the mutation!
There are two ways to have this mutation – you can be heterozygous, meaning you have one mutation, or homozygous, meaning you have two mutations. Homozygous mutations are more severe and will cause more problems with methylation, but heterozygous mutations can also be problematic.
You may be wondering how you can tell if you have an MTHFR mutation (or two). Many health issues can hint at this. Research has shown an association between MTHFR mutations and the following issues (among others):
How do I know?
Out of the estimated 40 percent of people with a MTHFR mutation most don’t know they have it. I just so happen to be one of the four in ten people who have this genetic change and I know this because I got tested. If you’re concerned, consider asking your functional medicine doctor about the following lab tests:
- DNA Methylation Pathway Profile: This test looks at around 30 methylation SNPs (single nucleotide polymorphisms). Because it looks for DNA mutations that govern methylation, these results can give you a personalized guide to what your unique genetic weaknesses and imbalances are so that you can address them specifically.
- Homocysteine: Most of the medical literature correlating health problems with methylation impairments is centered around the amino acid homocysteine, which needs to be recycled down by methylation. When homocysteine levels are elevated, inflammation is the result, and chronically elevated homocysteine is a risk factor for heart disease.
- Microbiome Labs: Underlying gut problems such as bacterial imbalances and candida overgrowth can exacerbate methylation problems.
- Urine Amino Acid Labs: This lab assesses for several biomarkers such as glutamate and ammonia, which can be high with certain methylation mutations.
- Hair Metal Testing: We use HMT to assess lithium levels. Lithium plays a vital role in mood, as well as B12 transport.
What else can you do?
There are many active steps you can take to make up for what your body lacks. Here are my favorite effective strategies for dealing with the fallout from an MTHFR mutation:
1. Avoid synthetic folic acid.
Steering clear of foods and supplements with added folic acid is important for anyone with MTHFR mutations, since it could be toxic in these people. Be sure to read labels on anything you eat or take. Natural folate is what you need more of, not folic acid.
2. Take activated B vitamins.
Generally support methylation impairments by taking activated B vitamins such as B9 L-Methylfolate (L-5-MTHF) and B6 Pyridoxyl-5-Phosphate (P5P).
3. Eat more green, leafy vegetables and organ meat.
Greens like spinach, okra, and turnip greens have many health benefits, including a high natural folate content. Also, organ meats like chicken liver and grass-fed beef liver have the highest levels of bioavailable B vitamins of any food.
4. Calm inflammation and support detoxification.
Natural medicines such as curcumin, resveratrol, phosphatidylserine, super oxide dismutase, n-acetyl cysteine, and alpha lipoid acid can help promote healthy detox pathways, dampen inflammation, and promote antioxidant functions in the body. Find them in the supplement section of your health food or well-stocked grocery store.
5. Avoid B vitamin-depleting medications.
6. Find the right B12 for you.
Depending on your specific MTHFR polymorphisms, you may tolerate certain types of B12 better than others. Working with a qualified practitioner can help determine if methyl B12, hydroxycobalamin B12, adenosynl B12, or cyano B12 is best for you.
7. Manage your stress.
Studies have shown that stress can alter the methylation of DNA, which in turn can alter the activity of certain genes. Mindfulness meditation, yoga, and tai chi are all effective ways to buffer the stress in your life.
8. Avoid toxins.
People with MTHFR changes have a harder time detoxing from the pollution of a toxic world, so avoid toxins as well as you can in what you eat, put on your skin, and breathe. Read my previous article for tips on living as non-toxic as possible.
9. Consider working with a functional medicine practitioner.
Since everyone is different, there’s no “one size fits all” with MTHFR mutations. Healing is a journey and there are no quick fixes. Consider a free functional medicine webcam or phone evaluation to talk about your specific health concerns.