Little Known Genetic Mutation – Causes Disease, Heartache, and Early Death
We must educate the world on MTHFR mutations. Why is it that a gene, vital to so many bodily functions, that is so commonly defective, and that can come with such devastating effects is so vastly unheard of?
It all started with a visit to my naturopathic physician last spring. I told her my husband and I were thinking of having another child, and I wanted to ensure my health was at an optimal level. I had a few minor complications with my first pregnancy (heart palpitations, vitamin/mineral deficiencies, small placenta, & small umbilical cord) that I wanted to avoid. One of the things Dr. Tara Hickman suggested was for me to check my MTHFR mutation status. She said she sees it in a lot of people with Celiac disease and it would be prudent for me to get tested. I eventually went through my conventional medical provider to get the test since insurance covered it and BAM! I ended up having not one but two defective genes. So, now you’re asking, what does all this even mean?! Why do I care?
Image Credit: Flickr, DNA Art Online
The MTHFR (methylenetetrahydrofolate reductase) gene is responsible for a very important enzymatic process in the body, which is responsible for the following (both directly or indirectly):
- Converts the folic acid in fortified foods/vitamins to the usable, bioactive form, folate
- Converts homocysteine, to another amino acid, methionine. If homocysteine doesn’t get converted, you’ll have higher blood levels which is linked to heart disease. (American Heart Association)
- Helps to produce the body’s form of SAMe (s-adenosylmethionine). This chemical is vital to your mental health and immune system. (University of Maryland Medical Center)
- Helps to produce glutathione, the body’s most abundant antioxidant. It is produced in the liver and is essential for tissue repair, immune health, & many other bodily processes. (WebMD)
- Assists the body in getting rid of everyday toxins. Think impurities in the water you drink, food you eat, alcohol you may consume, etc.
I am homozygous for the C677T MTHFR mutation. (There are several types of MTHFR mutations, but this particular type is a more common variation). With one MTHFR mutation, this enzymatic process is slightly hampered (by 30%). With two mutations, the process is much more greatly reduced (by 70%). (GreenMedInfo) People with MTHFR mutations have “methylation” problems. There are multiple medical articles or sources suggesting an increased intake of folic acid for those with MTHFR mutations — even when people cannot convert it properly to methylfolate. This is extremely disturbing, and it shows just how misunderstood the condition is, and how little doctors know about it. Since one with the mutations can’t convert folic acid properly, why would you supplement with it? With MTHFR mutations, you are better served eating naturally rich folate foods and supplementing with methylfolate rather than increasing folic acid supplementation. There is also controversy around whether or not folic acid levels actually build up in the body and cause other problems for those with MTHFR mutations. Interestingly enough, autism began to rise at the same time folic acid fortification began. (MTHFR.net) And, 98% of those with autism have at least one defective MTHFR gene. This does not show causation, but correlation nonetheless.
Prevalence of MTHFR mutations varies greatly by world region, but can be between 1-25% for two mutated genes and nearly 50% for one defective gene.
Image Credit: Flickr, UC Irvine
There are at least 64 conditions that are associated with MTHFR mutations.
- Type 1 Diabetes
- Down’s syndrome
- Multiple Sclerosis
- Congenital Heart Defects
- Depression/Bipolar/ Schizophrenia
- Cancers (Prostate, Gastric, Breast, Bladder, Leukemia…)
- Coronary Heart Disease/Heart Attack
- Spina Bifida
- Cleft Palate
Image Credit: Flickr, Cryptic_Star
Get tested. If you have suffered from any chronic illnesses or are planning to start a family soon, you can be greatly helped by this medical knowledge. Besides, what will it hurt? Just go to your conventional (or holistic, integrative, etc.) physician or medical provider, and ask for the MTHFR Test, MTHFR Mutation Analysis, or MTHFR DNA Mutation Analysis (the test is named differently between testing sites). Tell your provider you have been doing research on it lately and are interested in finding out your status. If you want more reason, provide them with a list of any of these associated conditions listed above (and check out the link for more conditions), that you or family members have. You could even print off information for them to be more prepared, and to educate your provider if need be. Most large labs offer this test (Labcorp, Quest Diagnotics, etc.), and sometimes insurance will pay for all or for a portion of it. My test was completely covered and my son’s was partially (more on him later). Call your insurance company to find out if they cover the test. If they don’t, expect to pay anywhere from $150 – $300. Don’t forget to look around and do research in your local area. Dr. Hickman could have done the test for me privately for $200. That would have been a good backup in case my regular insurance didn’t cover it. Another option is to get 23andMe genetic testing done for $99. They originally provided a health-related summary interpreting the raw genetic data, but due to pressure from the FDA, they stopped in November of 2013. You can still get the raw data from 23andMe, but it may not be quite as easy to interpret as it once was.
If you find out you have MTHFR mutations, especially two genes, here is a list of helpful actions. (Please read Dr. Lynch’s full recommendation in the link if you do have mutations — it is much more thorough and includes precise supplementation recommendations)
- Find a health care provider knowledgeable in MTHFR mutations and how to treat them. This could be an MD, DO, ND, DC, or RN… They will likely walk you through this very list
- Take a form of methylfolate. I take 5-MTHF from the reputable Thorne company. Again though, it is very important to consult with a health care provider so they can recommend dosage.
- Take methylcobalamin injections (a non-synthetic vitamin B12). You are likely throwing your money away if you take cyanocobalamin, the synthetic form. This is what is in almost every vitamin pill out there. You must be very specific in asking for the non-synthetic version. (Methyl vs Cyano)
- Take a high-quality multivitamin that does NOT use synthetics. See my post on Multivitamins.
- Avoid drugs that rob you of folate or other vital nutrients, such as medicines containing estrogen (some birth controls & menopause meds), nitrous oxide (laughing gas), acid blockers, cholesterol binding drugs, etc.
- Reduce your exposure to toxins, both in your diet and in your environment. I recently had my mercury amalgam (“silver filling”) removed. (If you choose to do this, you MUST be sure the dentist is properly trained or you could risk mercury poisoning). This article explains why to choose a mercury-free and mercury-safe dentist and how to find one. I also try to avoid eating out of plastic (especially with acidic or heated food). And, don’t forget that alcohol is a toxin. I love my wine, but I have to be careful There are many other ways to ensure less exposure to toxins. These are just examples. Here is a great article about other ways to reduce your body’s toxic load.
- Avoid gluten & reduce or remove dairy.
- Notify all family members so they can get tested. They may choose not to, but you at least owe them the information.
Image Credit: Flickr, Eflon
It is my sincere hope to help other people who have suffered from numerous miscarriages or other horrible health conditions that may be caused or exacerbated by MTHFR mutations. I am so thankful I didn’t have to experience a miscarriage, but I know of others who have and my heart grieves with them. Having something so common be so vastly unheard of gives me a variety of emotions. If we don’t like what is going on in the world around us, we have to change it. That’s what I’m trying to do – get the word out. Please help me spread it! The mutations will not go away, but we can bring awareness and help others deal with their mental illness, or fibromyalgia, or diabetes, or any of the other conditions listed above by letting them know about the test to get and the helpful actions above that could bring great relief.
When Wyatt was 1-year-old, we decided to get him tested for the MTHFR mutations as well. Guess what — he has two — the same as me. That means my husband has one (at least). I am thankful to know now, when my child is so young and vulnerable. I am beyond grateful to have had a knowledgeable provider direct me to get tested and help me ensure no other chronic illnesses develop, in myself, or my family!
For the science geek in you: An Overview of MTHFR
A Simple Explanation of MTHFR and it’s Effects
Folic Acid vs Folate
What is Methylation