There has been a lot of talk recently about methylation, often by means of talking about MTHFR testing. I heard about it for a long time before I actually understood it or decided to do the testing myself. There are so many possible contributions to disease that it can be overwhelming. Sometimes learning more about one thing can bring you down an extremely overwhelming rabbit hole that doesn’t help anything. I’ve learned a lot about how nutrition and lifestyle contributes to health in the past couple of years, and have made many changes. Some changes happened quickly and abruptly (avoiding gluten) and others have taken longer (stress reduction practices). The methylation discussion is one that I felt ready to tackle at the beginning of this past summer, when I was complaining to my practitioner that something was missing. That I was doing so many things right yet felt that something could be greatly improved. She recommended that I get tested for an MTHFR defects. I did, and my results turned out to be a key component to addressing my autoimmune condition and symptoms.
Before getting into my actual results and what I’ve changed because of them, I want to briefly explain about methylation. Without having a basic understanding, it’s hard to know why you should care about it! Fortunately, one of my favorite health and wellness expert’s, Chris Kresser, just had his latest podcast “Methylation- What It Is and Why Should You Care?” all about methylation. It’s a complicated subject, and he does a wonderful job of simplifying it to the point of making it much more understandable. I could try to do the same, but I admit that I don’t have nearly the same ability to condense the intricate material as he does. So instead, I decided to listen to his podcast through many times, and try to summarize it with respect to the information coming from him. So here it is:
Methylation is a vital metabolic process that happens in every cell and every organ in our body. It takes place more than a billion times a second in the body. Quite simply, life would not exist without it. Not only is it vital, but it is extremely complicated (see pic below). Luckily, I have no intention on explaining the intricacies behind the actual process today!
Methylation works on the most fundamental processes in the body, and it affects every tissue in the body. Although everything is affected by it, certain systems are affected a lot more than others, such as the brain. Methylation defects can manifest as all sorts of cognitive and behavioral issues, such as autism spectrum disorders, ADHD, depression, anxiety, etc. It also affects detoxification a lot, since methylation is needed to produce glutathione, a major antioxidant in the detoxification process. This can lead to higher susceptibility to heavy metal toxicity, since you can’t properly detox the metals you may come in contact with. Since we’re all bombarded with toxins in our modern world, our ability to detoxify is crucial for our overall health. Methylation also influences histamine breakdown in the gut, contributing to food intolerances.
Methylation is known for being a major player in activating and silencing gene expressions, otherwise known as epigenetics. This is known as DNA Methylation, and it is one way that cells affect your genes. We have always known that our DNA does affect a lot of our physical selves, but we’re now understanding better how all our many environmental challenges affect us as well. The bad news about this is that there are many environmental factors that we sometimes cannot have control over that contribute to our lifelong health, such as having an undesirable c-section, having a poor diet before we were educated, etc. The good news is that the opposite it also true- many of the things that we know how to do correctly for our health (stress reduction, fostering good gut health, avoiding allergens, etc) will positively affect our gene expression in the future. It seems that we are learning more and more about new ways that we can influence us in this positive way everyday.
So when methylation goes wrong, we want to know why does it, and what’s the cause of your defective methylation process? There are two categories of things that affect how the body methylates: genetics and environmental factors. Gut health, diet, exposure to toxins, stress, etc are all environmental factors. MTHFR is one of the major enzymes involved in the methylation cycle. We inherit these genes from each parents, so if you have two copies of a mutated gene, you’re considered to be homozygous. If you’re heterozygous, you have a single, normal copy of the gene, as well as a mutated copy. With genetic conditions, homozygous conditions are more serious, since it means that you are not producing whatever enzymes for the specific gene that you have mutated. If you’re homozygous, you’re have about a 60% decrease of activity of that gene, which means that you only have 40% of your normal enzyme activity. Certain mutated genes are more dangerous than others.
If you learn that you have methylated defects, you are much more likely to have reduced activity in the gene, creating methylation issues. This manifests as low levels of folate, B12, SAM, beneficial glutathione, and other metabolites in the methylation cycle, among other potential manifestations. This in turn leads to increased susceptibility to toxins, infections, histamine intolerance, depression, anxiety, fertility problems, miscarriage, and many other issues that I mentioned above. Luckily, having the gene defect is more of a predisposing factor to these issues rather than an outright prescription for disease, since all the many environmental factors play into whether or not you have an issue or not. It’s important to understand that some people are much more affected by gene mutations than others, even when they have the same gene mutations. This is where the environmental factors come into play. They have an important interplay with our genetic code. If someone has a homozygous mutation for a certain gene, it doesn’t mean they are doomed for the enzyme activity of that gene. If this person takes good care of themselves by not exposing themselves to toxins, taking good care of their gut, managing their stress, creating good sleep habits, etc, they are very likely to be able to have a much better methylation capacity than someone who does not take care of themselves in these ways.
To find out about your own methylated genotypes, you can get genetic testing done for about $99 through 23andme.com . I was able to get a test done through Spectracell Laboratories for much less through my Naturopathic doctor. If you get the test done yourself (as opposed to working with a practitioner or doctor), you can get the interpretation data of your results done through geneticgenie.org or mthfrsupport.com. It is very valuable to know the results because of how intricately it affects your health. For example, if it turns out that you’re homozygous for MTHFR, you will tend to be low in folate, B12, glutathione, etc and need to be aware of this in order to get the sufficient forms and amounts. It is important to have a protocol to support your body if you have methylation, and there are many ways in doing this. It is important to work with a practitioner or doctor on this, as it can be dangerous to be too aggressive with taking certain methylated supplements. Another reason t work with someone on this is that when you begin to methylate properly, your body will start detoxing, which can create a lot of confusing “die off” symptoms, that you’ll want to keep in touch with someone about.. Rich Van Konyenburg is known for his methods in treating methylation defects and is a good place to start.
The takeaway here is to get the extra layer of testing done to see what (if any) defects you have, so that you can work with your practitioner to properly support your body with this in mind, since those defects can be contributing to such a wide variety of issues. In my case, I ended up finding out that I’m homozygous for C677T Mutation, but negative for the A1298C mutation. This means that both of my parents have the C677T mutation. This mutation is associated with an increase in homocysteine levels, an increased risk of cardiovascular disease or thrombosis, and potential methotrexate intolerance. This is wonderful to be aware of, since I can now do everything I know how to do in order to support myself from having these risk factors be high. The treatment for this is a dietary and supplemental approach- I pay close attention to make sure I’m getting enough folate and B vitamins in my diet, as well as supplement with the appropriate form (which I discovered through my functional med doctor). Since I started supplementing with these things, I have noticed a difference in my autoimmune symptoms. Having the right amount of folate and B12 are also especially critical for fertility and energy metabolism- both important things to me! So I’m incredibly thankful that this information is becoming more widely known and studied. We have a long ways to go in the subject, but there’s a lot we can learn from what’s available now.
Have you had your methylation tested and if so, what did you find out?
