The MTHFR (methylenetetrahydrofolate reductase) gene’s job is to produce an enzyme that then adds methyl to folic acid, aka VitB9. Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate, which makes it bio-available. This same enzyme converts homocysteine into methionine. Methionine is an amino acid. Amino acids are the building blocks of proteins. Proteins affect your metabolism and growth. Methylation is the process where this methyl group of genes activate those enzymes.
Activated folate (5MTHF) is the precurser for methylation. Methylation is required for the creation of every cell in your body. 5MTHF is also used to process neurotransmitters (dopamine, serotonin, melatonin), create immune cells, process hormones, produce energy and detoxify the body. Stress in all forms inhibits methylation.
When we have proper methylation, our bodies can detoxify heavy metals, toxins, and waste effectively. When we don’t have proper methylation, we have a toxic system with no way to clean itself and no energy to get the job done.
MTHFR mutations are hereditary. There are several variations that can occur depending on what you’ve been passed from your parents. The most studied genes are C677T and A1298C. If you get tested, you’ll see the results of those two genes listed along with some terms.
Here’s what the terms mean:
Homozygous: Both parents passed on the same mutated gene, either 667 or 1298, which means you have two copies of the same mutated gene.
Heterozygous: You have either a mutated 667 or 1298 from one parent, and the other parent gave you a normal gene.
Compound Heterzygous: You got a mutated 677 from one parent and a mutated 1298 from the other parent, giving you both mutations.
Methylation and the conversion of homocysteine to methionine protects our physical and mental health. If we don’t have methionine, we can’t produce glutathione, which is how our bodies achieve apoptosis, or how we oxidate the body by cleaning out old cells that would cause illness and cancer if they stuck around.
Synthetic folic acid is a substance someone with mutant genes is virtually unable to process. Folic acid occurs in just about every enriched food product like breads and cereals as well as processed foods, multi-vitamins and many compound supplements. Our ability to convert even natural sources of folate can also be a challenge. Build-ups of VitB9/folic acid act like a toxin to the body and inhibit other body processes and actually mean you’re deficient in VitB9, even though there’s a toxic load of it, because it isn’t getting processed. If you’re deficient in folate/B9, B6 and B12, you get elevated homocysteine levels, which could negatively affect your brain and mood, as well as your heart and other organs.
The liver counts on methionine so it can convert it into SAM-e, which affects our brain chemical makeup (dopamine, serotonin, melatonin). If you have MTHFR mutated genes, you could have high levels of homocysteine in your blood and your liver could be doing a bunch of extra work.
You would probably have some pretty serious health issues happening on a cellular level. Some common ones are fatigue, mood disorders, impaired cognitive function, cardiovascular disease, addictions, high blood pressure, glaucoma, atherosclerosis, migraines, bipolar disorder, auto-immune diseases, pulmonary embolisms, fibromyalgia, miscarriages, schizophrenia, cancer, autism, and birth defects.
My current MTHFR specialist explained it to me in a way I could finally understand. I’ve paraphrased him here and added in a bit of my own imagery.
Imagine a 6-lane freeway. All traffic lanes are opened and moving smoothly. There’s an occasional slow-down, but it rights itself after a few moments. This represents a person with no mutations. Their bodies are adept at creating energy and new cells. They can exercise quite hard, drink heavily on occasion, live with high stress off and on, not get enough sleep, eat a bunch of junk food and still make it through life relatively unscathed. I image this person as the grandma at age 108 who states seriously that she’s had a shot of whisky and smoked a cigar every day since the age of 12 and considers pizza to be the answer to long life.
Now imagine that 6-lane freeway with two lanes closed. This represents a homozygous or heterozygous person with one mutant gene or two copies of the same mutant gene. The traffic from the other lanes is being re-routed and traffic frequently bunches while it goes through the 4 open lanes. The good news is that with a little careful planning, traffic can go on pretty much as per usual. You rest a little more now and then. You’re a little more careful with your exercise types. You probably don’t go on a bender very often and when you do, it takes longer than your friends for you to recover. You crave sugar but try to modify your diet so you eat pretty well. Your hormones might be out of whack a little and you might be prone to either migraines, lethargy, and/or stomach issues, but all in all, you do pretty ok when you remember to take good care of your needs.
Lastly, we’ve got compound heterozygous. This mean you have one copy of each mutated gene. You’re down to 2 lanes of traffic on your freeway. 100% of the traffic is trying to move through just 2 lanes and you’ve got frequent traffic jams. If you exercise too hard, you need several days to more than a week to recover. Your skin is probably sensitive to fabrics and temperature. You’ve probably already found out what you need to stop eating based on how crummy you feel when you eat the wrong stuff. You get headaches or migraines often. It’s like your PMS is on steroids compared to your friend’s PMS. You probably have some type of auto-immune disorder, brain disorder, physical disorder or both. You’ve probably spent a significant amount of time in doctor’s offices, wondering what’s wrong with you and why no one can figure it out. You might have felt like you’re going crazy on more than one occasion when the doctor just looks at you, blinking, and has no answers. Please know this – you are not alone and you are not crazy.
Stephen L. Smith, M.D. created lovely maps of these two main genes. You can view them here: MTHFR Related Health Problems and MTHFR Treatment.
If you choose to eat gluten even if you’re sensitive, it can take weeks for your body to recover. This is not the same thing as having Celiac’s disease which is an autoimmune disorder. Those individuals have an allergic reaction that causes their lower intestines to inflame. The symptoms can feel and look very similar at first, but the damage level done to the intestinal tract is severe in Celiac’s case and less so with gluten sensitivity. One way to look at why eating things you can’t digest causes to much havoc is to go back to our freeway analogy. If you put gluten in and your body can’t digest it, it will work super hard (causing inflammation) to remove it as soon as possible from the freeway so things can get moving again. Your body will store it as fat to get it out of the way. So you balloon almost immediately from the inflammation but you do actually put on pounds if you keep eating it because your body can’t digest it or eliminate it easily and it has to put it somewhere.
So, what’s the solution? It comes down to the energy conversion component. You have to keep in mind that anything you do that hinders your methylation is a step in the wrong direction. Eat right, rest and exercise right, clean your liver, make sure your yeast is under control, eat folate-rich foods, supplement when necessary, avoid folic acid and toxins, poop every day.
Get tested. If you suspect you are a mutant like me and don’t have the resources to get tested, heal your gut first with fermented foods and cut out all refined everything and avoid toxins from everywhere you can think of including makeup and clothing. Don’t consume folic acid, gets tons of folate naturally, and don’t interfere with the absorption of the folate by taking antacids. If you need to take a hormonal contraceptive, make sure you do it under the care of a doctor that understands MTHFR and the complications.
Lastly, self-care if paramount. You’ll need lots of time to take care of your needs as you figure out what they are. Rest, appropriate exercise, supporting detoxing in small ways on a regular basis like skin-brushing and soaking will help. Remember to hydrate and check this list.