MTHFR Simplified: Poor Methylation Prompts 100s Of Diseases

Statistically, upwards of 50% of us has a methylation problem. Thankfully, methylfolate can be taken as a supplement!

I’ve slowly figured out why I’ve had so many early miscarriages and multiple chemical sensitivities (MCS) all my life. I react so fast to so many things and have had respiratory arrests (stopped breathing) and headaches/migraines with aura when exposed to simple things like car exhaust, mold, crop dust, grasses and perfumes. Brain fog and the feeling of slogging thru sand had become a regular part of my life. At 64, I am just really starting to grasp the connection to my lack of proper methylation.

When you have Lyme Disease (like I did) or an autoimmune disorder (like I did), you get to learn a whole new language when it comes to your health. I thank God He has given me a medical background and a love of researching, so I could figure this out.

Methylation Problem Linked to Long List of Conditions

You probably don’t think methylation applies to you, however, read on because knowing about methylation could save your life or vastly improve it. Your body’s cellular capability to methylate applies to innumerable foundational functions in your body such as: repairing DNA, thinking and processing information, turning on and off genes, getting rid of environmental toxins and fighting infections to name just a few.

Suzy Cohen, RPh explains it this way: “Methylation is a vital metabolic process that happens in every cell and every organ of our body a billion times per second, and is crucial to our survival and well-being. These methylation reactions manufacture things like CoQ10, melatonin, creatine, carnitine, phosphatidylcholine, and hundreds of other really important substances in the body. Methylation influences the production of ATP, which is the fundamental energy unit of the cell. If the cell can’t produce ATP, then there’s not going to be adequate energy in the body” – much like a car running out of gas.

Ability to methylate helps you process and rid both toxins and excess hormones.

Hormone Issues

Take estrogen for example… you make it in your body, and you also get it from xenobiotics (estrogenic chemicals in plastics, shampoos, pesticides, etc.). If you don’t methylate estrogen correctly (a process which breaks down estrogen no longer needed by the body and allows it to become water soluble and eliminated) then you get serious hormone problems. Extra ‘bad’ estrogen floats around in the blood and the body won’t allow that to happen for very long, so it winds up being bound inside our tissue in the form of:

• Headaches with menses
• Heavy menses
• Fibrocystic Breasts (me)
• Endometriosis (me)
• Acne and unwanted hair growth
• Polycystic Ovarian Syndrome (me)
• Uterine fibroids
• Extremely light and irregular menses (me in my infertile days)
• Insulin sensitivity (can’t lose weight)

And this is just what happens with poor methylation of one hormone – estrogen!

Each hormone or chemical the body can’t make or get rid of produces a similar list of resulting problems. (source)

Connection Between Methylation and the MTHFR Gene

Maybe you’ve suffered through multiple miscarriages. Or maybe with chronic migraine headaches, an autoimmune disease, irritable bowel syndrome or depression. Possibly your family has a history of heart attack or stroke… Perhaps your child or a sibling has autism. What do all these things have in common?  Well, these are just some of the conditions linked to a faulty enzyme called MTHFR.

In 2003, the Human Genome Project (the first map of human genes) was completed. In that study, they discovered that an important gene towards our health and well-being, abbreviated MTHFR, was defective in a lot of people worldwide! Again, upwards of 50% of the population has this problem. These days, it’s possible to know what is happening in your body before health conditions develop through testing. This means that we can do something to prevent these conditions before they happen.

The MTHFR genetic mutation (think “Monday-Thursday-Friday”, hence M-TH-FR) is a fairly new buzzword and a lot is being said about it.

We usually think of genetic disorders as obvious conditions that require lifelong adaptations, but what about the less obvious genetic differences that influence not just the way we look, but the health conditions to which we are predisposed?

MTHFR is a genetic trait or mutation or snp (pron. ‘snip’) that can be identified with blood or saliva testing to see if it may be fueling conditions as diverse as the above.

Dr. Amy Yasko has now specified 5 biochemical pathways (cycles) that are intertwined in the Methylation Cycle. These pathways are ‘lined up’ in every cell of the body like in the image below.

The MTHFR enzyme is at a critical point in the methylation cycle, right in the middle of all these gears (see graphic above). If you have the MTHFR mutation, it causes a deficiency of methylfolate in your body, and thus a deficiency of glutathione, the master antioxidant and detoxifier.

(Please feel free to skip over the next bullet points if you are overwhelmed and continue at arrow).

What a mutated MTHFR gene does to you:

• It produces a defective MTHFR enzyme of different varieties i.e. it functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins well i.e. you could find yourself with high iron, or high copper, or high lead, or high mercury….etc. and have trouble detoxing.
• The defective enzyme doesn’t break down folic acid into methylfolate properly, which can cause high homocysteine. (We will come back to folic acid!)
• Homocysteine is poorly converted to glutathione, which (as I mentioned above) is your body’s chief antioxidant and detoxifier. You are then even more susceptible to stress and toxin buildup.
• Also, homocysteine is poorly converted to methionine, and less methionine can raise your risk of arteriosclerosis, fatty liver degenerative disease, anemia, increased inflammation, increased free radical damage… and you produce less SAM-e.
• Less SAM-e can increase depression.
• And more notably, an MTHFR defect can increase your risk of a variety of cancers. (source)

—-> Bottom line, folate (methylfolate) is required for the creation of every cell in your body, so if it is not available, you can imagine what a significant issue it would be.

But I’m taking Folic Acid, so I shouldn’t worry, right?

Sarah at the Healthy Home Economist tells us,”Folic acid is the synthetic version of folate. It is true that most of the medical community uses the terms folate and folic acid interchangeably, but they enter the metabolic cycle in different ways, and natural folate is easier for the body to access than the cheap synthetic version folic acid (source).

When people have the MTHFR gene mutation, they do not turn folic acid into folate. In addition, the folic acid plugs the receptor sites in cells with an unusable form for these people. With the unusable folic acid in the receptor cites, the body is prevented from being able to use the folate that they do consume through natural food.

Here is an example of a good raw prenatal vitamin with natural folate instead of synthetic folic acid.

So Why is Folic Acid Bad?

Sarah goes on to say, “So many people are taught that taking an excess of water soluble vitamins isn’t a bad thing because they will just be excreted in the urine if they’re not needed. But in the case of folic acid in the body of a person who cannot process folic acid into usable folate, the folic acid ends up in the bloodstream where it hogs the receptor sites on cells where folate is needed.” (source)

When unusable folic acid is taking up the receptor sites where real folate is needed, a folate deficiency occurs and the following can happen:

• Neural tube defects
• Recurrent miscarriages
• Midline defects including tongue tie (read more about folate and tongue tie here)
• Neurological problems
• Anxiety (many people don’t realize they have anxiety until starting folate and having it go way down)
• Growth problems
• Thyroid problems
• Anemia and more

Avoid processed foods as these are fortified with folic acid and this causes a burden in metabolism, especially for these folks with the genetic snp.

How We Are Supplementing

Thankfully, methylfolate can be taken as a supplement! If you have an MTHFR snp you may need to take a supplement. However, dosing can be tricky. Not all people will respond the same with the same supplementation, so that is where testing comes in which I discuss below.

One of our children does very well taking Metagenics Glycogenics, selenium, magnesium and zinc. No more migraines with aura even when she eats foods with additives/chemicals (which have always caused her to react) such as ‘natural flavors‘. She takes 1 per day.

Our son just started with 2 per day and is too early to know. UPDATE: our son’s experiencing much less fatigue, gut and skin issues after 3 weeks!

I take this one (one per day, or 2 when I am interntionally detoxing). This is not a recommendation, only what we are doing. Find a functional doctor or naturopath to find your right dosage. For much more on how supplements can dramatically help, read here.

Check For These Impt Ingredients On Label:

High quality methylfolate supplements will be seen on a label as: 5 methyltetrahydrofolate, 5 MTHF, or Quatrefolic. It should include more than folate (5 methyltetrahydrofolate) and B12 (methylcobalamin) such as the ones we take above.

Should You Test?

One option, especially if you’d like to find out about all of your genetic mutations and related nutrient needs, is to order a saliva test kit yourself online for $199 from 23andme. They will provide your “raw data” which you can then process through online programs such as Genetic Genie, Live Wello or Nutrahacker.

There is also the testing we are doing through Dr. Amy Yasko and Holistic Health. It will analyze your specific DNA methylation genetics and tell you exactly which supplement(s) to take and how much. Very specific and pretty understandable. (I am not an affiliate).

What’s the Good News?

Not only do tangible factors like diet, sleep, and exercise affect your genes, so do intangibles like stress, your relationships with others, and your thoughts. We CAN influence how our genes affect us.

This is the emerging field of epigenetics, the science of how our environmental triggers influence, modify and regulate our gene activity. It can alter the way our genetic code is expressed. The genes can turn on, and they can turn off.

Genes are not necessarily our destiny, we can modify them through lifestyle changes.

Get further information here

• Coleen Walsh – see MTHFR quick start guide, free at her site.
• Dr. Ben Lynch
• Dr. Amy Yasko

Feel free to share your experiences in the comments on testing, dosing, thoughts. Thanks!

“In every bone, joint, and muscle, sinew, gland, and blood vessel, you see the presence of a God working everything according to the design of infinite wisdom.” ~C.H. Spurgeon

DISCLAIMER: I am no longer a practicing professional, and I am not a doctor.  I am a mother. I do seek scientific confirmation of the safety and efficacy of the remedies I use through research. Using remedies is a personal decision. Nothing I say on this blog is intended to treat or prevent disease. Consult your doctor.

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Thanks for reading!