Nancy Mullan, MD
MTHFR Positive and Freaked Out About It
You just got your methylation genetics test result back. It's positive (MTHFR +). You know this means something. It explains something about why your body has problems that other people do not have. You are always tired. You eat in a restaurant and you feel awful. Even when you eat at home, some foods make you feel bad. You have quirky reactions to supplements and pharmaceuticals.
Does MTHFR + explain all that? You are not exactly sure what it explains...
So you go on the Internet to find out. Then you get even more confused. Different people are saying it causes different problems, and none of them pinpoint the health issues you have. You are clear that obstetricians ask for MTHFR testing more than other specialists, but that has nothing to do with you. Nobody online is talking about gastrointestinal issues, fatigue, muscle pain, sensitivity to chemicals or the struggles you have been having. They are recommending special forms of folic acid and B12, but those special forms of these B vitamins make you feel worse. What does that mean?
The MTHFR mutation has a definite impact on your health. It reduces the number of methyl groups that your body can make. Methyl groups are important for the smooth function of your biochemistry. They are necessary for good immune function and the regulation of genetic expression. They are involved with maintaining hormone balance and both the production and the breakdown of neurotransmitters. Like O2 (oxygen) or H2O (water), they are a small but mighty molecule. They are necessary for life; they are that important.
What impact an MTHFR mutation has on you depends upon varying factors. Below is a depiction of the pathway that makes methyl groups. You can see MTHFR at 8 o'clock in cycle number 3. You can see a number of other genes represented in boxes with blue letters. This is a profound simplification of something that is very complex, but any of those genes may have a mutation. And that mutation may have an impact on methyl group formation because it is either in or connected to the pathway that makes methyl groups.
Beyond that, there are other factors which affect methyl group formation. The fluid inside your body that surrounds your cells is formed from what you put into your body, in short, what you put into your mouth. You need to eat foods with good nutritional value so your cells have the basis for optimal function. Making methyl groups happens inside your cells, mostly the cells of your liver. You need the right vitamins and co-factors to have that happen optimally. What you breathe and absorb through your skin are also important to your internal environment. So, many things determine how your body functions, only one of which is the MTHFR mutation. You probably have more questions about MTHFR and the other mutations surrounding it. Your health and what you are doing to support your health, is vital to a fulfilled life. Going to the Internet can start you out, but, especially if you have been chronically ill, you need explicit, focused, correct information that is specific to you. That's why I tell you to get an Exploratory Conversation with me. An Exploratory Conversation is not an office visit type of appointment. It is a 30-minute conversation in which I listen to your health issues, review your test results, and make specific recommendations about what you should do. It removes the confusion about which direction is up, which supplements may help, which supplements may make you feel worse, and what else to do. The fee for this service is $129. It is easy to set a time for one soon, and it can save you from lurching around in the dark with a clinician who doesn’t know that much about MTHFR + and how it relates to your health issues. I give you experienced, thoughtful input that clarifies what you should do. You are dealing with conditions in your body that are confusing and difficult to understand. You do not have to handle those by yourself. You can get clarifying input from me that gives you hope and moves you away from vulnerability to strength. Take control and manage your health with an effective plan. I look forward to being able to help you. Dr. Mullan