What is MTHFR? If it’s not an acronym for a raunchy swear word, what the heck does it mean?
MotherFather? How about MothFur?
Get ready for a complex mouthful: MTHFR stands for methylenetetrahydrofolate reductase.
Now say that five times, fast! Or not. Maybe we should stick with the kooky acronym.
The MTHFR gene provides instructions for making the important enzyme known as methylenetetrahydrofolate reductase. This enzyme then processes those all-important protein building blocks we know as amino acids.
We all carry two copies of this gene, one from each parent, which means we can inherit up to two copies of variants on those genes. If someone says, “I have MTHFR,” what they really mean is, they have a mutation on one or both MTHFR genes. For the record, “mutation” can also be referred to as polymorphism or variation.
Many people dislike the word “mutation” and prefer one of the others. As for me — meh. I’m not that sensitive and don’t care what you call it.
“Polymorphism” is a pain to type. And I generally don’t like using euphemisms either, so I’m more likely to use the word, “mutation” (although for the sake of variety, I’ll sprinkle a few each throughout this post, like genetic fairy dust).
It is estimated that somewhere between 30 and 50 percent of the population may have this variation. In an article written by holistic pediatrician Dr. Katherine Erlich and posted by Dr. Ben Lynch on his website, Dr. Erlich says that about 75 percent of her patients have at least a single MTHFR variation.
And upwards of 40 percent of her patients have a double variation. She also states that the other doctors in her practice have found similar percentages among their adult patients.
Methylation, Folic Acid, and Folate
Methylation is a necessary metabolic process that does amazing stuff like switching genes on and off, repairing DNA, and many other crucial things. It is also essential to convert both folate and folic acid – forms of Vitamin B9 – into its active, usable form called 5-MTHF.
Then, 5-MTHF assists in many critical processes, such as DNA reproduction and breaking down homocysteine into methionine. High homocysteine levels are often the result of a MTHFR mutation, and these homocysteine levels in the blood can contribute to inflammation and puts people at risk for stroke, heart disease, and other cardiovascular issues.
This has also been linked to other health problems, such as Alzheimer’s, macular degeneration, cancer, and hearing loss.
Many vital hormones, like estrogen, cortisol and melatonin are controlled through methylation, as are the equally important neurotransmitters like epinephrine and serotonin, among others. The methylation pathway is also where glutathione, one of the most crucial antioxidants in the body, is produced.
In addition to protecting us from free radicals, glutathione helps us to detox many heavy metals, carcinogens, and chemicals. Even the liver uses methylation during its phase 2 detoxification.
Consequently, if MTHFR is left untreated, it is extremely difficult, if not next to impossible to effectively detox — even with a pristine diet and plenty of good detox supplements, depending on the percentage of impairment. Some studies have shown that impairment level can range from about 20-70 percent.
Folic acid is the synthetic form of folate, or vitamin B9. For those of us with a MTHFR polymorphism, our bodies have a hard time efficiently using folate, so we need much more than the general population.
And as for folic acid, no thank you! Our bodies don’t metabolize it much at all, causing it to build up to dangerous levels that just keep circling around and around. Now, what do you suppose a serious lack of folate would mean for a pregnant woman?
MTHFR and Miscarriages
Many doctors assert that MTHFR has nothing to do with recurrent miscarriages. While it’s true that many other factors can and do cause recurrent miscarriages, and that many women with an MTHFR polymorphism do indeed carry their babies to term, many do not.
Why the discrepancy? Just because someone has the polymorphism doesn’t always mean it will cause a problem. Even if it does, the level of dysfunction varies from individual to individual.
Also, a lot these women eat a diet high in folate-rich leafy greens, do not eat a lot of processed food (which is notoriously high in folic acid), and their methylation cycles are not completely messed up.
But for those unfortunate women whose methylation cycles are functioning poorly and who take multivitamins with folic acid and eat a lot of processed food, it’s a much different story. But the good news is, there is something you can do about it. More on that later.
Types of Mutations
The most common and well-studied MTHFR mutation is the C677T. Sadly, the A1298C often gets shuffled off into a corner because it is thought that the C677T is the real villain.
A homozygous C677T mutation is a villainous duo as well, but the A1298C can also cause problems when there are two copies (homozygous) or it is combined with the C677T (heterozygous).
It has been shown that a heterozygous A1298C and C677T is at least as dangerous as the homozygous C667T.
I managed to inherit the compound heterozygous A1298C and C677T mutations. Which is too bad, because the A1298C all by its lonesome really doesn’t appear to be harmful and is generally nothing to worry about, provided those who have it live a healthy lifestyle.
However, combined with the C677T, the game changes. These two beauties together make up what is called a compound heterozygous mutation (I won’t go into the homozygous/heterozygous thing, but for a good explanation go here.)
Conditions and Symptoms
Research has tied many, many conditions and symptoms to MTHFR mutations. For brevity, I’ll list just a few here to add to the ones listed above.
- NAFLD (Non-Alcoholic Fatty Liver Disease)
- Insulin Resistance
- Hashimoto’s Thyroditis
- Pernicious Anemia
- Down’s Syndrome
- Bipolar Disorder
- Blood Clots
- High Ammonia Levels
- Shortness of Breath
- Accelerated Aging/Wrinkles
- Memory Loss
- Chronic Fatigue Syndrome
And those are just the tip of the proverbial nasty iceberg. For a more comprehensive list, check out Dr. Ben Lynch’s articles here and here. Like many of us, Dr. Lynch himself is dealing with the compound A1298CT/C677T mutation, and his family members all have variations, too. Another excellent list that includes a nice diagram is here at Dr. Amy Yasko’s site.
Well, Now What?
First and foremost of course is, don’t panic!
Then as always, do your homework. Read up on it. If you suspect you have an MTHFR mutation (or whatever you want to call it), get tested. Your doctor can order a blood test, but keep in mind the fact that most doctors know very little about MTHFR mutations, so it’s best to find one who is experienced in this area.
If there are none near you, find one who is at least willing to learn.
Please note: I am not being compensated by any of the doctors or companies listed below, as I do not yet do any affiliate advertising. In fact, the only one of these I have any experience with is the 23andMe test. I have listed the doctors and companies below only because I found them to be very interesting and informative.
You can always get tested yourself. I did the 23andMe test. They do not provide interpretations for the MTHFR portion of the test, but you can download your raw data and run it through an online genetic analysis company, such as the ones I list below.
There is also a very comprehensive test developed by Dr. Amy Yasko, at Holistic Health. In addition to the test, you get a comprehensive interpretation as well, so there is no need to run it through an analysis company. Here is a sample report. Dr. Yasko also provides her program and many other resources for free.
Here is a list of companies that will interpret your raw data, once you’ve been tested.
The cost for these analysis services varies from free to around $45. However, the comprehensiveness varies as well, so be sure and carefully check what is included with each one.
I have not used any of these companies and therefore, cannot recommend any of them, since I downloaded my raw data from 23andMe and gave it to my doctor.
The good news is, we don’t have to be sick! This pothole on our genetic highway can be effectively managed, and those of us who have it can live healthy, vibrant lives. You’ve no doubt heard the saying that, anything worthwhile does not come easy (or something like that).
Same goes for this condition. If you have it, you will need to make some diet and perhaps lifestyle changes; how big these changes are will depend on your impairment level and your current diet and lifestyle.
If you already eat clean, including lots of leafy greens and other veggies, and regularly exercise, you won’t have to make radical changes. You’re already halfway there!
If on the other hand, your lifestyle tends more toward couch potato with potato chips, the change will, of course, be more vast.
But don’t be discouraged! Sure, if you’re used to eating anything you want (no matter how it makes you feel), to suddenly stop eating many of those things requires a pretty big mind-shift and a lot of determination.
I won’t lie, it can be hard. I remember how impossible the task of cutting gluten from my diet seemed. First, I panicked. What can I possibly eat? Gluten is in pretty much everything!
Then, I grieved. I can’t believe it. I’ve always eaten gluten. It’s always been a part of my life…now just like that, it’s gone. My life will never be the same. What will I do without it? How can I go on? (cue violins)
Okay, maybe I wasn’t quite that dramatic, but after the panic, there really was a sort of grieving period. Then came the mind shift — once I quit feeling sorry for myself — and with it, the determination.
I will do this. I must. I’ll learn all I can about celiac disease. And if I can’t find anything gluten-free around here, I’ll order online. Speaking of online, I’ll devour information and tutorials like a pb&j on Wonder bread, find gluten-free recipes, and learn how to bake my own bread, pizza crust, etc.
And I did.
And just as I learned how to work around celiac, and am now learning to work around an MTHFR mutation, you can, too.
I won’t go deep into the management of it, as obviously that needs to be done by an experienced physician and besides, you can get a much better idea about what’s involved by visiting Drs. Lynch and Yasko’s sites and others like them.
But I’ll give a quick and very partial rundown of some of the things mentioned.
- Avoid folic acid like the plague
- Limit processed food
- Drink lots of filtered, fluoride and chlorine-free water
- Eat a wide variety/colors of non-GMO veggies and fruit daily (with at least the Dirty Dozen organic)
- Eat meat and eggs from antibiotic/hormone free, grass fed/free range animals
- Regularly detox via saunas
- Get your homocysteine levels properly measured
- If you have this mutation (or any), let your family members know, so they can be tested
A few things your doctor may have you take (you must find a doctor with experience or willingness to learn!):
- Methylated folate/Methylfolate
- Methylcobalamin or another form of available B12 (not cyanocobalamin)
- Liposomal Glutathione
- Milk Thistle
- Multivitamin formulated for those with a MTHFR mutation
- Magnesium, plus a mineral blend containing potassium, selenium, and others (I take ReMag and ReMyte)
Please do not attempt to self-medicate! Yes, medicate — just because a substance is natural doesn’t mean it can’t hurt you.
In fact, Dr. Lynch has a couple of very informative articles on the side of effects of over-methylation, and one on how to properly get your blood levels of unmetabolized folic acid and methylfolate levels checked, so your doctor will know exactly how much you should take.
Here are a couple of sources to help you find a doctor:
With the help of an experienced doctor and proper management, those with an MTHFR mutation can and do live healthy, energetic, lives. If you learn that you are in the MTHFR boat with us, that includes you as well!
You must be willing to find the right doctor (if there are none in your area, many take Skype appointments), learn, and make some diet and lifestyle changes, but these things are doable. It all depends on you.
I hope this post has informed and helped you in some way. If so, share the love on social media. Thanks! 😉