Genetic mutations like MTHFR can have a significant impact on your health. Knowing about them allows you to make better choices about how to care for yourself.
How did I learn about MTHFR?
Until a few years ago, I had never heard of MTHFR. It wasn’t until I went to a specialty clinic in Pocatello, ID that a doctor suspected that I had MTHFR. What made him suspicious? Two things (1) my B-12 levels were sky high, and (2) I had somewhat elevated homocysteine levels. At the time I was giving myself weekly B-12 injections, in hopes that my energy would be improved. But the wise doc suspected that my body was not absorbing the B-12. And … he was right. (Technical stuff for those who like it — the B-12 injections were cyanocobalamin and individuals with MTHFR have difficulty absorbing it. I now take methylcobalamin and my body can absorb it.)
Learning about MTHFR and making changes accordingly was one of the biggest improvement areas with my health. That is why I want to share with others about it.
Disclaimer – I am just an average Joe. I am not a doctor; not giving medical advice; simply sharing my experience in hopes that it helps someone else. Always consult with your health care team before making changes that may impact your health.
What is MTHFR?
MTHFR is an acronym which is short for methylenetetrahydrofolate reductase. So MTHFR is both a gene and enzyme. The gene tells the body how to make the enzyme. The MTHFR enzyme ads a methyl group (for all you chemistry lovers out there) to folate and folic acid to make it usable for the body. Methylation also turns toxins into non-toxins.
So what’s the big deal if you have a mutation?
The two most problematic places on the gene, that are most often studied, are C677T and A1298C. (Most often referred to as 677 and 1298.) Individuals who have either or both of these mutations have an impaired ability to produce the MTHFR enzyme which can make it difficult to break down folic acid and additionally detoxify the body of other substances. Imagine a refrigerator that people keep stuff things into, but no one ever cleans anything out. Soon it is a hot mess inside that frig. Well, individuals with MTHFR can build up (1) homocysteine (more on that in a minute) and (2) toxins — and soon begin to have lots of side effects. The body was not intended to have toxins building up inside of it.
Homocysteine measured in a blood test is often correlated with cardiac issues. In other words, if your homocysteine is elevated, you are considered to be at a higher risk for heart disease. Individuals with MTHFR cannot break down folic acid and so it builds up in their body. That in turn can raise homocysteine levels. As I mentioned before, my homocysteine level was somewhat elevated when I saw the M.D. in Idaho and this was a red flag for him — considering that all my other blood work looked great.
Very briefly, when we are born, we get half of our genes from our mom and half from our dad. Referring to MTHFR, each person has two 677 genes and two 1298 genes. One from each parent. So there are lots of options here. A person could have 1, 2, 3 or 4 mutations.
Heterozygous – only one gene has a mutation. So a person could be heterzygous for 677 or for 1298 and all the other genes would be normal
Homozygous – both genes have the mutation. Either 677 homozygous or 1298 homozygous. (I am 1298 homozygous).
Compound homozygous – The person has one 677 mutation and one 1298 mutation.
I suppose it is possible that someone could have all four mutations — though I never read about that. I’m not sure why.
How do mutations occur?
In all honesty, we don’t know how mutations occur. There are cases in history where the only people who lived through a plague of some kind were those with a specific mutation. All others in their group died so therefore the mutation became the dominant trait. But how did those people have that mutation to start with … again, we don’t really know.
In school we learned that genetics is a simple equation — What Mom gave you + What Dad gave you = You
But it likely isn’t that simple. I mention this because it is important to not feel frustrated or angry with our parents or generations before them. We each have a path in life and we all have challenges. For some of us, health challenges are larger than for others. We were sent to earth to succeed! So look around and find the resources you need to thrive and grow!
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What are the symptoms of MTHFR?
Dr. Doni Wilson, a naturopathic doctor, says that lingering fatigue, brain fog, irritability, anxiety, sleep issues, and various aches and pains, can likely be linked to an MTHFR mutation. She says this affects many aspect of life and stress can make it worse.
To clarify in more detail, the liver is a major processing system, involving countless enzyme pathways, including methylation, which turn one nutrient into another and toxins into non-toxins, preparing them all to be used and/or expelled by the body. When you drink alcohol, it is your liver’s job to process it using methylation, but if your nutrients are depleted or you are stressed, your liver will not be able to complete the process effectively, leading to symptoms associated with a hangover.
If in addition you have a genetic mutation of MTHFR, which lowers your ability to methylate–and it turns out that many of us do have at least one form of that mutation—then your body is going to have an even harder time detoxifying alcohol and other toxins.
In fact, the degree to which your body doesn’t activate folic acid to methylfolate influences your susceptibility to chemical sensitivities and allergic responses, but also blood clots, strokes, anxiety, depression, high blood pressure, certain cancers, and more. Even thyroid issues, headaches, and insomnia have been associated with having an MTHFR mutation.
And the simple treatment is to take folate in an activated form orally. So you see it would be absolutely worth knowing if you need it, because then you can address it immediately and hopefully reduce your risk of developing these conditions.
She doesn’t say this specifically here but it is known that people with MTHFR have difficulty processing the cheap folic acid that is added to so many foods. Hence why supplementing with methylfolate is needed.
Similar to what I have found in other places, Draxe.com lists out what illnesses / challenges are likely associated with the different mutation areas.
MTHFR C677T mutations are tied to cardiovascular problems, elevated homocysteine, stroke, migraines, miscarriages and neural tube defects. Some studies suggest that people with two C677T gene mutations have about a 16 percent higher chance of developing coronary heart disease compared to people without these mutations.
MTHFR A1298C are tied to higher levels of fibromyalgia, IBS, fatigue, chronic pain, schizophrenia and mood-related problems. This is especially true if you’ve inherited the mutation from both parents or have both forms of MTHFR mutations.
Yet a word of caution with these lists: There are multiple things listed for the mutations that I have that are spot on but others that are not. So the science is still developing. For example, I am homozygous for 1298 but that is not known to raise homocysteine. Yet my homocysteine was elevated and as soon as I started taking methylated folic acid, my numbers lowered to a normal level. Additionally, I have migraines but don’t have the 677 mutation. And don’t assume just because you have a family member with one of the above listed conditions that you for sure have MTHFR — My husband’s mom had schizophrenia and he doesn’t have any of the mutations.
Don’t freak out
It is easy to read something like this and immediately worry if you have the mutations. Please use it as a helpful tool, not something to stress over.
Finding out I have MTHFR was like turning on a light in a dark room for me. I suddenly had an explanation why I had various symptoms. That doesn’t mean that I am going to give up and not try to get better. It means I extend a lot more grace to myself now than I did in the past. I know that I have to take care of myself — reduce stress, eat well, get enough sleep, etc. I am not just going through a phase.
How to find out if you have MTHFR
If you decide you want to be tested, there are lots of options. I initially had a blood test done and got my results within a few days. Later I did 23andme genetic testing and got the same results. A fun side benefit to 23andme is that you can get family history info from your 23andme testing. It is really easy. You request a test kit, spit in a tube and send it back to them. Within six weeks you get your results. The cost of the kit and the cost of the blood test were about the same — but I got way more information from 23andme than I did from the single blood test.
After I received my raw data from 23andme I uploaded it to Genetic Genie and it told me about my methylation genetics (for free).
AncestryDNA is similar to 23andme. It is my understanding that your raw data from AncestryDNA can also be uploaded to Genetic Genie. So you can find out about your methylation issues from either source.
Another option, if you think you may have MTHFR, is to try supplementing with methylated b-12 (methylcobalamin) and methylfolate. One big caution here. If you have MTHFR and you take too much methylfolate, you will not feel well. (I felt like I had the flu day after day.) Basically it causes your body to detox too quickly and you feel rotten. I suddenly felt and moved like I was 80!
If you do have MTHFR, there are things that you can do to support your body, beyond taking pills. I will talk about those in a different post. I hope this post has been helpful in explaining what MTHFR is, how it can impact you, and how to get tested if you so desire.
If you have questions about MTHFR or my experience with it, let me know. Have you heard of MTHFR before? Anyone been diagnosed with it?
Wishing you peace, hope & joy!