Heavy Metal Toxicity and MTHFR: The Deadly Combination

Mercury Toxicity Contributes To Methylation inhibition, thereby hindering up to 250 cellular reactions in the body that are essential for proper energy production. Chances are if you are suffering with a chronic illness, you’ve probably heard about the MTHFR gene mutation, and methylation in general. But If you haven’t, then reading this article can become the “aha moment” you just may be looking for.

What is Methylation and what does it have to do with Heavy Metal Toxicity?

In our ever toxic environment, we are bombarded with massive amounts of organic toxins like bacteria, mold, viruses, parasites, yeast, fungus, and candida to name a few, as well as inorganic toxins such as chemicals, radiation, pollutants from pesticides, xenobiotics in the medications we are prescribed, and the heavy metals in our air, water and food supply.

All of these factors can be thought of as “stressors” to the body. Different from the usual psycho-social things that we typically think of as “stressors”. Such as a crappy job, a highly demanding boss, debt, bills, family members etc, etc. Yes, your body has to process these stressors as well. However, in actuality, a complete list of “stressors” entails the organic, inorganic, and psycho-social stressors. All are influential on the body. The way the body deals with these stressors is through a process called methylation. To learn more about adrenal fatigue and methylation click here.  The process of methylation (or biochemistry in general) can be very technical and scientific. However, to make it more easily understood, think of methylation as having three primary functions:

1. It Promotes Detoxification
2. It Control Inflammation
3. It Balances Neurotransmitters

When this process of methylation is not working at full capacity, we have an imbalance between supply and demand. An imbalance between the stressors on the body that are demanding our cells to supply sufficient methylation, resulting in the primary functions of methylation not being performed optimally. As a result, your body becomes toxic. Your body accumulates abnormally high levels of inflammation, which in turn, mood and emotional changes develop.This can impact your feelings of happiness and sadness, focus and concentration, sleep, motivation, pleasure, pain, as well your ability to acquire and learn new information.

A further consequence of methylation breakdown can impact fundamental processes in the body such as thyroid, adrenal, pancreas, stomach, intestinal, and hormone imbalances. A MTHFR gene mutation could complicate this process even further by contributing more methylation deficiencies to an already excessive load.

What is MTHFR?

MTHFR is an enzyme in the methylation cycle that converts 5,10MTHF to 5-MTHF Methylene-tetrahydrofolate reductase. Take a deep breath, I’ll explain it to you. Basically all of that can be translated to the conversion of active vitamin B9 from the inactive vitamin B9. A little easier to understand, but the importance of which cannot be overstated. That’s because this MTHFR enzyme is vital for many biochemical processes in the body and is a major player in the methylation cycle.

In other words, active B9, known as methylfolate (made “active” by MTHFR), is a major ingredient for methylation, and proper methylation is necessary for detoxification, reducing inflammation, and making neurotransmitters. As previously mentioned, this process of methylation helps the body deal with the stressors it comes in contact with on a day to day basis by preforming three main functions: Detoxification, Controlling Inflammation, Balancing Neurotransmitters. When you have a genetic problem with the MTHFR enzyme, it interferes with your body’s ability to do these three functions.

More specifically, when you have a MTHFR enzyme problems, or difficultly breaking down folates and folic acid into methylfolate, it ultimately leads to a decrease in methylfolate production, methyl B12 production, and SAMe (S-Adenosyl Methionine). Deficiencies in active folate (methylfolate) can cause many chronic neurological and metabolic health condition.

What are the MTHFR Genetic Defects?

There are various polymorphisms (or SNPs), mutations, or altered enzymatic efficiency that can occur on the MTHFR gene. As a way of classifying the various kinds of mutations, they are named for the number position on the gene. The letters stand for one of the nucleobases (Guanine, Adenine, Thymine, Cytosine). For the MTHFR defect, the actual defects can occur in two different places on the gene:

1. C677T or
2. A1298C.

The way I explain it, to conceptualize it a little better, is to think of the two different locations of the rungs on the same ladder. Both have to be passed through to get to the top of the ladder, but they are located differently along the ladder. The same is the case with different places on the gene that can be altered. The other way of classifying various polymorphisms (or SNPs), mutations, or altered enzymatic efficiency, is whether one or both copies of a gene are mutated. Heterozygous mutations (+/-) indicates one copy of the gene is mutated, whereas homozygous (+/+) means both copies are mutated. You can have the following two common MTHFR genetic mutations:


Heterozygous +/- — 40% reduction in MTHF production
Homozygous +/+ — 75% reduction in MTHF production


Heterozygous +/- — 20% reduction in MTHF production
Homozygous +/+ — 40% reduction in MTHF production

Compound Heterozygous (677/1298)

50-60% reduction in MTHF production

(Heterozygous – one normal gene, one affected gene, either mom or dad)
(Homozygous – one gene from mom, one gene from dad)

The more polymorphisms, typically the more significant the problem.

Heavy Metal Toxicity and MTHFR

Heavy metal toxicity can contribute to a further reduction of methylation activity in a number of ways. Remember we mentioned that the bodies way of dealing with stress is to methylate efficiently. In this case, heavy metals that we encounter in the environment, like silver fillings, contaminated food sources like fish and vaccinations, accumulate in your body. Methylation will help you reduce this toxic burden. But when you inherit altered, mutated genes, the enzymes involved in methylation as we just mentioned, do not work at optimal capacity.

To understand the concept of genetic defects, think about a four lane highway. If you inherit no faulty genes from your parents, then your four lane highway is working perfectly. It can handle all the traffic that is on the highway. However, if you inherit one copy of the gene mutation (+/-), then consider that four lane highway being reduced to a 2 lane highway. All of a sudden, that same traffic on the highway is not moving as efficiently. But when you inherit both copies of the gene mutation (+/+), now you have a 1 lane highway. Even further backlog of traffic. The same can be said for you body. Only instead of cars creating traffic, think of “stress” creating traffic. The more stress you have, the more traffic you have. The more traffic you have, the increased demand you place on your highways to clear traffic.

If that wasn’t enough, not only can the highways have altered efficiency, or decreased lanes to process traffic, or gene mutations like MTHFR, but you can also have the double whammy of having a car accident in the middle of the 2 lane or 1 lane highway, grinding traffic to a complete stand still. Regardless of how many lanes of highway you have, car accidents will further slow traffic down. These car accidents are call “inhibitors” in our body, and research has shown, that heavy metal toxicity like mercury, is one such major inhibitor. This is just one reason why it is so important to identify and remove these heavy metal inhibitors and support the body’s ability to detoxify, reduce inflammation, and make neurotransmitters effectively.

MTHFR/MTR/MTRR Gene Mutation And Heavy Metal Toxicity

While the human body is extremely profound, human biochemistry is far from perfect. This couldn’t be more true when it comes to genes. While you don’t need to be a biochemistry major to understand the basics of genetics, in order to simplify the topic, understand that chromosomes are comprised of DNA, and a section of DNA is called a gene. It’s also important to note that the blueprint and instructions for human biology (i.e., you) is DNA. There is a specific gene (i.e., segment of DNA) called the Methylene-tetrahydrofolate reductase gene, or MTHFR gene for short. There is a specific gene (i.e., segment of DNA) called the Methionine Synthase gene, or MTR gene for short.

Finally there is another specific gene (i.e., segment of DNA) called Methionine Synthase Reductase gene, or MTRR gene for short. The imperfection of biochemistry is that sometimes genes are mutated (i.e., they don’t work properly). Think of these gene mutations as different highways on which you travel towards a specific destination. If you have reduced lanes of highway coupled with car accidents on each highway that you travel on, it will take you a very long time to finally end up at your destination. When a MTHFR, MTR, or MTRR gene is mutated, and you have heavy metal toxicity, you can now have a complete shutdown of your methylation activity.

While it isn’t possible at the moment to change (i.e., fix) our gene mutations (fix the lanes of highway) it is possible to change how they’re expressed (i.e., their functions). That is, you can work really hard to remove the pile up and log jam of the car accident in the middle of the highway. Specifically fixing a MTHFR, MTR, and MTRR gene mutation’s expression can be done with a specific treatment protocol. Listen to our Teleseminar 

To determine how many lanes of highway you have, or more specifically, whether you have altered gene expression, you can get tested for a MTHFR, MTR, and MTRR and other common gene mutations through Ancestry DNA to determine methylation defects. After receiving your results, we recommend uploading them to livewello.com for an analysis of gene mutations, with a functional medicine practitioner who is trained at interpreting these results.

Symptoms Of Heavy Metal Toxicity

Symptoms of heavy metal toxicity, like many of the other conditions that can affect people in many different ways: Here’s a list of symptoms that can develop from heavy metal toxicity:

  • Alzheimer’s
  • Parkinson’s
  • Behavioral/learning disorders such as ADD, ADHD and autism
  • Fatigue
  • Headache
  • Bone marrow depression
  • Anemia
  • Skin discolorations
  • Neurological symptoms
  • Liver and kidney degeneration
  • Cancers
  • Agitation
  • Learning impairment
  • Confusion
  • Malaise
  • Vomiting
  • Diarrhea
  • Eczema
  • Muscle weakness
  • Hair loss
  • Stomach pain
  • Respiratory issues
  • Hypertension
  • Muscle and joint pain
  • Low back pain
  • Atherosclerosis
  • Affects the kidneys, lungs, testes, arterial walls, bones
  • Interferes with many enzymatic systems
  • Hyperactivity
  • Mental and emotional changes
  • Loss of appetite
  • Chronic fatigue
  • Depression
  • Poor memory
  • Emotional instability
  • Peripheral numbness
  • Sleep disturbances
  • Persistent infections like yeast

Testing For Heavy Metal Toxicity

Testing the blood, urine, and hair samples are typically the way heavy metal toxicity is measured. We have been using doctorsdata.com as a trusted lab because they have been a pioneer in essential and toxic elemental testing since 1972. Because toxic exposure to metals does not remain in the blood for a very long time, only acute exposures are determined when testing blood samples. For that reason, we suggest testing either hair or urine samples.

Hair Analysis of Heavy Metals

With respect to hair element analysis, it yields clinically significant information which combined with a thorough work up, case review, patient symptoms, and other laboratory values, we can come up with an early diagnosis, an objective baseline, that is related to the changes in essential and toxic element metabolism. Scalp hair is easy to sample, and because it grows an average of one to two cm per month, it contains a “temporal record” of element metabolism and exposure to toxic elements.

Nutrient elements including magnesium, chromium, zinc, copper and selenium are necessary co-factors for hundreds of important enzymes and also are essential for the normal functions of vitamins. The levels of these elements in hair are correlated with levels in organs and other tissues. Toxic elements may be 200 to 300 times more highly concentrated in hair than in blood or urine. Therefore, hair is the tissue of choice for detection of recent exposure to elements such as arsenic, aluminum, cadmium, lead, antimony and mercury. The CDC acknowledges the value of hair mercury levels as a maternal and infant marker for exposure to neurotoxic methylmercury from fish.

Urine Analysis of Heavy Metals

Urinary porphyrins is a test that can be performed to look at nutritional status, oxidative stress, detect high levels of exposures to chemicals and metals, as well as looking at genetic disorders and metabolic disturbances. Urinary porphyrins oxidized intermediate metabolites of heme biosynthesis and are readily excreted in excess when porphyrinogens accumulate. Specific urinary porphyrin profiles have been associated with very high levels of toxic metals such as mercury (Hg), lead and arsenic.Mercury specifically inhibits two enzymes in porphyrinogen metabolism—uroporphyrinogen decarboxylase and coproporphyrinogen oxidase (CPOX).

When these two enzymes are inhibited, or not working effectively, particularly in the kidney, and both will be measured with a urinary porphyrins test. Recent research has identified an additional abnormal porphyrin in the urine of mercury exposed dentists. The urinary porphyrins test can also detect arsenic exposure, lead exposure, and other harmful chemicals like hexachlorobenzene and dioxin, polyvinylchloride (PVC) and polybrominated biphenyl.

Lastly, various drugs and other substances can suppress enzymes involved in porphyrin metabolism and affect the levels of urinary porphyrins. Such compounds include alcohol, sedatives, analgesics, antibiotics, estrogens and oral contraceptives. Anemia, pregnancy and liver disease can also affect porphyrin metabolism. This non-invasive test requires a single first morning void (FMV) or 24-hour urine collection.

Removing Heavy Metals

Always consult your physician first before beginning a treatment protocol for heavy metal removal. Understanding your beginning levels of heavy metals, is key. Understanding which genetic mutations you have is also vital to understand which patches of highway slowed down both genetically, and epigenetically. That is,  the slow down in methylation due to altered genes, heavy metal toxicity or both. There are some popular supplements used for helping the body remove blockage in the the methylation activity. Dosages should be discussed with your treating physician

If you are looking for a functional medicine partitioner to help you with your adrenal fatigue and heavy metal toxicity, click here to discuss working together.