MTHFR (yes, it reads like ‘mother f’r’ to me, too) is an abbreviation for the startling long term “MethyleneTetraHydroFolate Reductase.”
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme: as an enzyme, it’s job is to catalyze – or cause – a part of the body’s main detox cycle, called the methylation cycle, to occur. Everybody has MTHFR enzymes. It is an inherent part of how the human body works.
And robust MTHFR enzymes are crucial for health.
MTHFR catalyzes the conversion of 5,10-methelentetrahydrofolate to 5-methylenetetrahydrofolate… I know that’s a mouthful, but bear with me. Basically, MTHFR changes a molecule from one form to another. This process is important because it helps change homocysteine (a natural molecule in the body that can be dangerous at high doses) into methione.
Remethylating homocysteine into methionine is very important for your health. Doing so keeps detox running smoothly. Failing to do so can both slow down the body’s detox processes as well as cause homocysteine levels to become dangerously elevated.
Therefore, MTHFR is crucial for making the detox process go ahead as planned, and for keeping homocysteine levels in check.
Cause for concern
Unfortunately, it is possible to have a mutation on the gene that codes for MTHFR activity. If you have such a mutation, your MTHFR will not work as it is intended to.
Some researchers estimate that the number of people with an MTHFR problem is as high as two thirds of the population. Others think it is much less. The real numbers are unknown – though I would not be surprised to find that a significant portion of people do suffer from some sort of MTHFR problem.
Problems that may come from said deficiency
The jury is still out on the true nature of the link between an MTHFR gene mutation and different health conditions.
Disparate health conditions as wide ranging as PCOS, colon cancer, occular disease, and Alzheimer’s disease have been hypothesized to be at least in part a result of MTHFR. Some medical professionals think it is all hogwash. Others think it is very, very real.
I think it is definitely real, at least based on my own experiences, and the huge body of literature and forums on the internet of people working through these issues with lots of biochemcial theory and lots of data regarding what has worked for them and what hasn’t.
Here is a list a problems that may happen as a result of an MTHFR mutation:
-MTHFR will not work as well, such as by performing at only 30, 40, or even 70% of it’s capacity (depending on which type of mutation you have).
-Detox may not proceed well, such that the body can become over-burdened by heavy metals such as copper, lead, or mercury, or by environmental toxins like BPA, or by normal body waste like excess estrogen.
-Important body chemicals like serotonin and dopamine depend on a healthy methylation process, so you may become deficient in them.
-If copper levels become elevated, low ferritin may result, which can cause symptoms of anemia.
-Homocysteine levels may become elevated, which can result in an increased risk of heart attack and stroke. Cognitive impairment, mood disorders, congenital defects and pregnancy complications may all also be significant problems. High homocysteine levels also appear to be correlated with incidences of PCOS. No one agrees on an upper limit for safe homocysteine levels. 5-15 micro mols per liter is thought to be average, but that varies of course from person to person.
-Levels of methionine (the molecule that homocysteine is supposed to be converted into) may fall, which will elevate risk of inflammation, oxidative stress, fatty liver disease, heart disease, and anxiety (!).
-Levels of glutathione, the body’s most important antioxidant, may fall. This makes the body more susceptible to toxins, to oxidative stress, and to disease.
-You may produce less SAM-e as a result, which can cause depression and/or anxiety.
-Folate vitamins may not get broken down properly, which can increase the risk of high homocysteine.
-Folate and B12 levels may become unnaturally elevated in the blood, which can confuse the body as to which vitamins are active and inactive, and will cause processes that rely on these molecules to falter.
-You may be at greater risk for migraines.
-You may be at greater risk for mental health problems ranging from anxiety to schizophrenia.
-You may be at greater risk for any health issues that are a result of toxins or poor detox or antioxidant capacity.
An underlying problem that explains them all
Many people suffer from many various health conditions that do not appear to have any linkages at first glance. Yet after learning about MTHFR they find that some of their symptoms may in fact all be tied to this mutation.
My own mother is a case in point. She suffers from some circulation issues, from Reynaud’s, from early-onset glaucoma, from eroded cartiledge in her knees, and from some other odds and ends. At the very root of it all may be a circulation defect from her MTHFR malfunctions.
I am another one. I had/have PCOS, high susceptibility to anxiety, low magnesium, keratosis pilaris, acne, and insomnia.
Of course, it is entirely possible that my conditions and my mother’s conditions have mutliple causes. I am in fact sure that they do. Yet as women who carry MTHFR gene defects, and especially in the case for my mother, it just makes sense that they may be rooted all in one place.
Unfortunately MTHFR gene detects are extremely complicated. Even people who work exclusive in the MTHR field do not always understand them. This is a part of why so little research has been done on them, and also why it is often challenging to find help from a medical professional.
Moreover, there are many different types of mutations on this gene, and each of them has different implication.
There are, primarily, two different types of mutation: C667T and A1298C.
Then for each of these types you can be either heterozygous or homozygous. That is – you can have half of the problem, or you can have the whole problem. (Half for hetero, whole for homo.)
So there are eight mutation options:
you could be one half C667T, and one half A1298C. Or simply one half C667T. Or one whole 6677T. Or one half A1298C. Or one whole A1298C. Or whole both C667T and A1298C. Those are all of the options.
The more mutations you have, the more impaired your MTHFR is. The fewer, the less.
But wait, there’s more…
In addition to the standard MTHFR gene mutation, there are two other important mutations that can happen to the methylation process.
One is called the COMT mutation. The COMT enzyme degrades stimulatory molecules like adrenaline and dopamine. Adrenaline and dopamine may feel good in short term bursts, but if they build up in the nervous system you may end up feeling a whole lot like me – which is to say, very anxious, irritable, and be prone to insomnia and migraines. COMT can be both homozygous or heterozygous.
The other is called the CBS mutation. The CBS enzyme breaks down homocysteine and removes excess sulfur containing amino acids. The CBS mutation can make people highly sensitive to dietary sulfur intake (Broccoli, garlic, eggs, for example). Excess sulfur is an important problem to address before addressing any other MTHFR or methylation issue. You can read more about that process here. CBS can also be homozygous or heterozygous.
What to do if you find out you have MTHFR, COMT or CBS mutations
Obviously what you do depends upon which problem you have, and to what extent. There is a lot of debate and hypothesizing out there about what is best for whom and how much and the like. I won’t go into too much detail here, but here are the basics:
-Limit intake of and exposure to heavy metals is very important for mutation management. Be sure to avoid pesticides (eat organic whenever possible), to avoid conventionally-raised animal products and farmed fish, to avoid high mercury-containing species of fish like tuna and swordfish, to use good, clean kitchen appliances and glass containers instead of plastics, and to limit contact with electronics, batteries, and the like. Water filters are also an excellent idea. Here is one I like a lot.
–Limit smoking – that’s a bit obvious. Try and not do that. 🙂
-Get off the birth control pill – this may be helpful as excess hormones can clog the detox processes in the liver.
-Steer clear of highly oxidized foods such as anything char-grilled.
–Steer clear of rancid oils – smell them and make sure they smell fresh before consuming.
–Steer clear of omega 6 vegetable oils like vegetable oil, canola oil, safflower oil, sunflower oil, grapeseed oil, corn oil, and soybean oil.
–Eat food high in anti-oxidants like blueberries, blackberries, acai berries, leafy greens, and other colorful fruits and vegetables several times a day.
–For MTHFR: Moderating protein intake appears to be helpful as it prevents the homocysteine load from becoming too high. I recommend 50g of protein a day, and perhaps a bit more for athletes, for people who suffer from MTHFR problems.
–For MTHFR. The general recommendation for MTHFR is to take a high quality methylated b-complex vitamin, focusing on folate B12, B6, and choline. Here is a whole B complex with all the right stuff. If pregnant, this one is highly regarded by experts I know.
-COMT. Those with COMT mutations should limit their intake of methylated folate, and trying using something calling hydroxycobalamin instead.
–CBS. Avoid sulfur containing foods and seek out a health professional specializing in CBS treatment.
For more on MTHFR, COMT, CBS…
All of this is pretty complicated! If you wish you know more about it, you can start googling around.
I trust many people (like Noelle Tarr) who trust Dr. Ben Lynch, who writes at mthfr.net. It’s a great place to get starting doing more research, in any case.
Here is an excellent article breaking down the complexities of methylation and all potential defects.
What you don’t know…
It is often said that what you don’t know can’t hurt you.
While I enjoy employing this adage in my love life (probably too much), it doesn’t work so well with regards to your health.
I prefer to be as informed as possible regarding my heath, so that I can take all the steps I need to to be a health ywoman for as long as I can.
Plus – most people who have elevated homocysteine levels will never experience any symptoms, even though high homocysteine appears to play a causal role in heart disease.
So I am personally grateful I got tested, and you may be too. Of course it’s fine if not! Just letting you know what’s out there as a possibility for your health, and how you may be able to better take care of yourself with this kind of knowlege.
You could also of course try to treat it without getting tested and see if you improve, though that’s tricky because there are so many options and variables out there.
You can get this test done at most doctor’s offices.
If you wish to test at home (and the cost may be similar, or cheaper, depending on your insurance), my preferred recommendation is to use 23andme.com. They give you a full genetic test for less than $120 – telling you everything from your ancestry to personality traits to disease risks and gene defects.
Unfortunately 23andme can no longer interpret your results for you, but you can easily plug your data into geneticgenie.org and get results for free there!
Here’s a link to check out 23andme: http://23andme.com.
Then come on by and let us know how you do! 😉
Finally, if you really want to be confused, here is a diagram of the whole system I pulled off the wikipedia page: