MTHFR Gene Mutation: What is It, And How Do I Treat It?

Hi everyone!

Today, I want to share something personal. Awhile ago, I took the ’23 and me’ genetic test and found out that I have MTHFR. I had never heard of MTHFR before and had no idea what it was. But in the most general terms, I have a gene mutation of the MTHFR enzyme that does not produce correctly during methylation. I wanted to write this post to simply explain what MTHFR is and my personal experience with it to spread the word about it and hopefully connect with some of you who are going through something similar!

I have spent a great deal of time researching and talking with MTHFR experts such as Dr. Dane Buxbaum who is a local naturopathic doctor and who I talked to before writing this post. I just want to preface this post by saying that I am not a medical professional but am just sharing the things I have learned recently through my own research and my recent conversation with Dr. Buxbaum!

What Is MTHFR, and What Does it Mean to Have a Mutation?

According to Dr. Dane Buxbaum, “MTHFR is an enzyme and gene that comes when our body is turning Vitamin B9 into an active form during Methylation.”

Methylation is described as an “important biochemical reaction in our body” that creates and breaks down neurotransmitters (like serotonin, dopamine, etc.), creates new DNA,  supports the production of creatine and the lipid cell wall and supports 250+ other mechanisms in the body. For those like me who have the mutation, we might have difficulty processing folic acid and eliminating toxins.

I won’t get it into it right now, but appropriate amounts of folate are crucial for good health. There are different variations of the MTHFR mutation so make sure you know which one you have and to what degree it is affecting your methylation process!

What Can MTHFR Impact?

Since it is a part of our body’s detailed biochemistry, having a gene mutation can leave someone with absolutely no symptoms at all or be a part of the cause of detrimental diseases. According to MTHFR expert Dr. Ben Lynch, these are some of the symptoms and conditions that have been caused or partially related to the MTHFR gene mutation:

These are just some from the list Dr. Lynch has compiled and updated throughout the years. I have also linked out the resources he has found to back up these medical symptoms and conditions.

Why Did I get Tested for MTHFR?

So, I have talked about this before but before I had Diego, I had a couple of miscarriages and I was on a mission to determine potential causes for it even though my doctor was telling me that miscarriages were normal. So, when my family doctor brought up the possibility, I decided to be tested and found out I had the mutation. When I found out I was pregnant with Diego, I went to a high-risk pregnancy doctor while also going to be my OBGYN. He put me on a folate and B vitamin supplement and a daily aspirin and voila! Diego was born 🙂

Who Should Get Tested For MTHFR?

There can be some more obvious symptoms for some such as a history of cardiovascular diseases, mental health disorders, miscarriages/infertility, chronic fatigue, or any family history of cancers. These are some indicators of symptoms that have been linked to a partial cause from MTHFR.

During my call with Dr. Dane Buxbaum, he suggested anyone whose body is going through something stressful such as an infection, Lyme’s disease or any other general issues can really benefit from a genetic test. He advises this because when one part of the body is going through an intense struggle, other areas of our body can begin to not work correctly while trying to fight the other ailment.

However, being aware and knowledgeable of your genetic makeup can’t hurt. I found so much information through my ’23 and Me’ kit that really helped me feel aware of my body. I highly suggest anyone get genetic testing done just for their own curiosity and betterment. You can also go to your normal lab and ask for the test, I know here in Arizona you don’t need a doctor’s order.

I Have MTHFR, Now What?

The most powerful tool is the acknowledgment of the gene mutation. However, there are supplements and foods one can take to help symptoms decrease. In my conversation with Dr. Dane Buxbaum, he told me that one of his favorite foods to help MTHFR gene mutations are uncooked dark leafy greens (spinach, kale, green juice). These foods are rich in folate and eating them consistently helps add Vitamin B9 to our body. Other foods that I really enjoy eating that are high in Folate are beans, lentils, cooked broccoli, eggs, avocado, and cooked Brussels sprouts.

But not to be confused, folic acid, which is synthetic, is something to avoid for those with MTHFR because it cannot metabolize properly it actually makes more harm to us than good. When looking for a multivitamin to help with MTHFR, focus on ones that include a Vitamin B complex, and make sure that both the folate and B12 are in their active forms. Thinking of MTHFR as a leak in our body when processing Vitamin B–if you consciously add more it then you can meet an average level and might be able to go on without supplementation.

Lifestyle Changes That Can Help With MTHFR

  • Avoiding synthetic forms of folic acid, as Dr. Buxbaum mentioned even avoiding foods that are fortified with it. This will actually have a double benefit as folic acid fortified foods are usually highly processed foods so this is a healthier choice regardless.
  • Those of us with the mutation might have problems eliminating toxins. On my call with Dr. Buxbaum, he recommended paying attention to all cleaning supplies we use in our homes. So, try to go for natural brands like The laundress or Force of Nature that focus on using safe ingredients. You should even be careful with the chemicals used to spray your home for insects.
  • Eat a healthy diet with a focus on eliminating processed foods, foods that are high in metals, eat organic as much as you can, and focus on green leafy vegetables like I said above. Try to get into the habit of eating something green with each meal, and soon enough you won’t even need to think about it!
  • Help your gut! About 6 months ago I started taking digestive enzymes and Probiotics consistently, and I can’t even tell you the difference this has made! The effect that enzymes have had on my health is probably a topic for another blog post! My favorite brand of enzymes is local here in AZ it’s called Divine Nature.

This condition is very individualized and there is no one-size-fits-all solution because it affects everyone so differently. If you do have MTHFR, meeting with an expert or naturopath doctor who can analyze the specific symptoms you have had is the most beneficial approach. They will also help you determine the appropriate dose of methylfolate that you need, because everyone is different. My doctor that was not very informed about the topic started me on a SUPER high dose and since I did not feel I needed it I went down to 1000 mcg ( I take the one I take id from Jarrow and I buy it at Whole Foods)  and feel great!

I hope at least one person reading this finds some knowledge, support, or interest in the topic. MTHFR is not something talked about in general medicine and I want to bring more attention to it. If you have MTHFR and have any information or tips I would love to hear them in the comments below or on my Instagram!

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