MTHFR Gene Mutation Symptoms

MTHFR gene mutation symptoms

You could be experiencing MTHFR gene mutation symptoms if your overall health has been declining.

Over 70% of the world’s population has a methylenetetrahydrofolate reductase genetic mutation (MTHFR). Which is a problem that has been linked to poor methylation and enzyme production. In a normal person, the body acts as its own chelator by utilizing its own glutathione. Cysteine-rich proteins bind to the heavy metals and keep them out of the fat cells where they like to congregate, helping the person to eliminate them. Unfortunately, people with methylation gene defects can’t excrete metals due to impaired cysteine metabolism and reduced glutathione. These people can’t properly regulate good minerals either, which is causing a multitude of health issues in humans.


MTHFR Gene Mutation Symptoms

(Heavy Metals Toxicity and MTHFR

Heavy metals are dangerous, and the exposure of humans to these metals is disastrous for physical well-being. Methylation inhibition that is extremely dreadful has the contribution of toxic mercury. People suffering from some chronic disease know about the term MTHFR gene mutation, and they also know what methylation is. But if you don’t know about these two things, stick with us because this article “MTHFR Gene Mutation Symptoms” will give you a clear picture of what you want to know.

Heavy metals list

  • Mercury
  • Arsenic
  • Beryllium
  • Cadmium
  • Nickel
  • Chromium
  • Lead

What is methylation, and how does it relate to heavy metal toxicity?

We have never been as vulnerable to the toxins as we are today. There are two kinds of toxins,  named as organic and inorganic toxins. 

Organic toxins  Inorganic toxins 
Viruses Radiations
Bacteria Chemicals
Fungus Pesticides pollutants 
Yeast / Candida Xenobiotics
Mold  Heavy metals in air, water etc.

These are some of the organic and inorganic and inorganic toxins that contribute to adding toxicity to the environment.

Both of these toxins are known as stressors to the body because they exert stress on biological and physiological functions. In our daily life, we consider psycho-social things such as stressful jobs, difficult bosses, toxic friends and family members as stressors, as they cause harm to our mental well-being, which then becomes the cause of our physical illness.

In reality, all these three things, organic toxins, inorganic toxins and psycho-social things, are stressors because they all have a negative influence on the body.

The mechanism of the body to deal with such stressors is known as methylation. Although this is a complete technical and biological topic, we will try to make it simple for you to understand it easily. 

“Methylation is a complex biochemical process that regulates gene expression by turning genes on and off.”

To make it very simple, let’s consider some of the functions of methylation.

Following are the functions of methylation.

  • Intracellular detoxification
  • Supports the immune system
  • Balances neurotransmitters
  • Regulates protein function and RNA production

In normal circumstances, the body cells function at their own ideal pace to carry out the desired amount of methylation required for effective body functioning. The body cells deal with some amount of stressors regularly with methylation, but the number of stressors does not remain the same.

When there are a high number of stressors, a very healthy amount of methylation is required from the cells of our body. And here the problem starts because now, to do methylation in large quantities, the functions of methylation may not occur at an optimal level.

As a result, an abnormally high level of inflammation occurs, directly affecting your emotional well-being. A lot of emotional changes occur then, and many areas of your emotions are disturbed like pleasure, happiness, sadness, motivation, sleep, and the ability to learn something new.

Apart from that, this problem in methylation also leads to disturbing many biological processes like adrenal, thyroid and hormonal imbalances etc.

Things become more complicated when MTHFR gene mutation starts to get involved in these disrupted methylation functions that increase the burden even more.


What is MTHFR?

MTHFR is a vital enzyme that plays its role in the cycle of methylation and is backed by the MTHFR gene. The function of this enzyme is to convert folic acid to methyl folate. Folic acid is vitamin B9 but in an inactive form. The MTHFR converts this folic acid from its inactive form to methyl folate, which is the active form of vitamin B9. So the further chains of reaction are dependent on this enzyme for its conversion.

Proper methylation is important to carry out many functions in our body. For example, detoxification that is mandatory for the body to work at its optimal level is a part of methylation. Without proper methylation, you will have heart problems and diseases because it affects the heart and causes dementia.

Another thing is inflammation. Without proper methylation, you end up with many types of inflammation like arthritic type pains, ache joints etc. 

Methylation helps to produce neurotransmitters, and its defect leads to the inability to produce full capacity neurotransmitters. Neurotransmitters like serotonin, dopamine and melatonin are vital for emotional regulation. These neurotransmitters regulate mood, depression, and anxiety. Serotonin accounts for low dopamine, which causes drug addictions like alcohol etc. Melatonin is all about sleep, and without this neurotransmitter, you cannot sleep well.

So all these important functions and abnormalities of these functions can be caused by the hindrance of one process called methylation. And the cause of malfunctioning of methylation may be a single enzyme called MTHFR.

In short, the MTHFR enzyme problem can lead to a significant decrease in the production of methyl folate, SAME, and methyl B12. And not only this, such deficiency of methyl folate can lead to many dreadful health conditions.

Test for MTHFR at MaxGen- /

MTHFR indicators –


Genetic defects of MTHFR

A lot of people have the mutation, or more specifically polymorphism which is a slight variation in the gene known as MTHFR. MTHFR mutations are not rare, and researchers are of the view that there are more than 30 types. C677T and A1298C both gain much attention and are well-known. The gene defect occurs at the above C677T and A1298C on these places of the MTHFR.


The order of the letters and this digit is pointing to a single nucleotide polymorphism. The letters are numbers indicating their position and their structure.

 While a normal MTHFR gene would be C677C (c = cytosine), a mutation or polymorphism has made the gene C677T (t =thymine). Carriers with a T on the gene are not efficient, so it is a problem linked with mutation.

 For C677T, the alleles are C and T, and as these are clearly different due to this, it is known as heterozygous.

 T677T is a homozygous mutation, as there are two copies of the same mutant allele (T).


Like the above C677T, here when instead of adenine, the mutant MTHFR has cytosine.

When one mutant allele on both base positions of 1298 and 677 is heterozygous. For example, the MTHFR C677T + MTHFR A1298C is a compound heterozygous mutation.

Most harmful MTHFR type

Heterozygous A1298C is not that harmful. And heterozygous C677 may affect metabolism up to 35% at worst.

 Homozygous mutations, as well as compound heterozygous, are considered the most severe at risk. Some researchers say homozygous mutations can inhibit MTHFR enzymes function up to 70%. 



        Heterozygous: reduction up to 40% in the production of MTHF

        Homozygous: reduction up to 75% in the production of MTHF


        Heterozygous: reduction up to 20% in the production of MTHFR

        Homozygous: reduction up to 40% in the production of MTHFR

 Compound Heterozygous (677/1298)

         Up to 50-60% reduction in MTHFR production


Heavy metal toxicity and MTHFR

We know that gene mutation of the MTHFR leads to spoiling the methylation, but the heavy metals also play their part in doing so.

As we have discussed earlier that for the body to function properly, methylation is mandatory. With no methylation or poor methylation, an individual will suffer from a lot of physiological and emotional problems.

Heavy metals from outside the environment enter the body, and then the body treats them like stressors. Things like water, food, and air that we take into our bodies and are necessary for survival contain these heavy toxic metals.

Methylation is always there to tackle such toxic metals, but when an individual inherits mutated genes, the efficiency of the enzymes decreases significantly, and now the methylation will be of poor quality. 

To make it very simple for you so that you understand it easily, let’s look at the following example.

Consider a motorway having five lanes. When you have no inherent mutant genes from your parents, your 5 lanes are free to control the traffic load. But, if you inherit one copy of the altered gene (+/-), then consider that now you are left with only 3 lanes. The motorway will now face the significant burden of traffic. However, if you inherit both copies (+/+), then now you have only one lane left for traffic handling. The same is the case with your body when you consider your body instead of the motorway, and traffic instead of stressors. Big traffic means that your body will handle a large number of stressors. For big traffic management, more lanes are needed.

You can also think of stressors as cars on the motorway involved in road accidents. It doesn’t matter how many lanes you have, accidents will occur, which will further lead to the blockage or bad flow of traffic. These cars involved in road accidents resemble “inhibitors” in our bodies that reduce the flow of metabolic activities.


MTHFR/MTR/MTRR gene mutation along with metal toxicity

When it comes to the biochemistry of human beings, they are from being perfect.

Chromosomes are genetic materials present in the nucleus of cells, composed of DNA. The DNA is called the blueprint for human biological functioning and has small fragments known as genes.

There are genes like methylene-tetrahydrofolate reductase gene (MTHFR), methionine synthase gene (MTR), and methionine synthase reductase gene (MTRR). Sometimes, these genes are altered (mutated), and hence they appropriately don’t work.

When these genes are altered, and heavy toxic metals are combined with these mutations, the consequences are dreadful and may cause the methylation activity to stop.

Although we cannot fix the mutation of these genes, we can change their expression (function). It will be just like removing the jam of car accidents from the lanes of the motorway. With proper treatment, the expression of gene mutation can be competently done.


MTHFR Gene Mutation Symptoms 

Just like any other condition that has many symptoms, heavy metal toxicity also affects a person in separate ways. Following is the list of MTHFR gene mutation symptoms an individual may develop due to high metal toxicity.

  • Abdominal pain
  • Agitation
  • Anemia
  • Atherosclerosis
  • Autoimmune diagnosis
  • Behavioral/learning disorders like ADD/autism 
  • Bone marrow depression
  • Brain fog — 
  • Cancers
  • Chronic fatigue
  • Chronic infections such as Candida
  • Chronic malaise —
  • Chronic pain throughout the muscles
  • Confusion
  • Convulsions
  • Dark eye circles
  • Depression
  • Depression of thyroid and adrenal function
  • Diarrhea
  • Dizziness
  • Eczema
  • Emotional instability
  • Excessive salivation
  • Facial asymmetry
  • Fatigue
  • Fibromyalgia
  • Food allergies
  • Garlic odor on breath
  • Gastrointestinal complaints
  • Gingivitis
  • Gout
  • Hair loss
  • Headache
  • Headaches
  • High blood pressure
  • Hyperactivity
  • Hypertension
  • Impaired blood sugar control
  • Impotence or loss of libido
  • Infertility
  • Insomnia
  • Interference with many enzymatic systems
  • Kidney and liver failure
  • Kids with birth defects
  • Leaky gut
  • Learning impairment
  • Liver and kidney degeneration
  • Loss of appetite
  • Low back pain
  • Malaise
  • Mental and emotional changes
  • Mental impairment 
  • Metallic taste in the mouth
  • Migraines and/or headaches
  • Miscarriages
  • Mood swings, depression, and/or anxiety
  • Muscle and joint pain
  • Muscle weakness
  • Nausea or vomiting
  • Nervous system malfunctions like numbness, burning etc
  • Neurological symptoms
  • Panic attacks
  • Parkinson’s
  • Parkinson’s like symptoms
  • Peripheral neuropathy
  • Peripheral numbness
  • Persistent infections like yeast
  • Poor memory
  • Progressive blindness
  • Reoccurring Parasites
  • Respiratory issues
  • Sensitivity to light
  • Skin discolorations
  • Sleep disturbances
  • Slow healing
  • Stomach pain Alzheimer’s
  • Strabismus
  • Tinnitus
  • Tremors
  • Vertigo
  • Visual disturbances
  • Vomiting
  • Weakness
  • Weight loss

Myself having homo C677T MTHFR variation, experiencing many of the problems that are listed above. . I have had great improvements with my MTHFR gene mutation symptoms from detoxing with TRS –


Why people with MTHFR use TRS detox as a MTHFR treatment  ?

TRS is best to use for detoxification purposes, and we highly suggest it. The following lines will make it clear why you should use TRS instead of other detoxes.

Clinoptilolite zeolite works so well because they have a high negative charge and a strong affinity for toxins as toxins are usually positively charged.

They act like tiny toxin magnets that attract and cage heavy metals, pesticides and any other toxin that has a positive charge. 

TRS is unique among detoxes. Coseva perfectly designed the zeolites to be in the nanometer range and encased in water molecule clusters. 

They have a sufficient amount of surface area to capture toxins because of their 0.9-nanometer pore size. Once toxins get trapped by the zeolite, they are captured within the zeolites’ cage-like structure and are rendered inert and have no chance of breaking loose.

Due to the small size of the nano-zeolites, there is no need for the kidney to filter; that’s how gentle this method of detoxing is.

The TRS zeolites are encased in water molecules in a true colloidal suspension. They cannot settle out of the solution and they are able to travel through the body with water and detox at the cellular level, including passing the blood brain barrier. 

What makes TRS incredibly unique;  it is considered a passive chelator, it picks up toxins as it encounters them, but does not force toxins into circulation which is why it does not cause redistribution and prevent the body from harm. The transportation of the TRS largely occurs through urine and other elimination pathways. 

TRS will remove any toxin with a positive charge and that includes heavy metals and toxic elements (aluminum, mercury, cadmium, arsenic, fluoride, barium, strontium, uranium, lead etc), pesticides and herbicides, plastic residues, toxins from molds and yeasts, chemicals from smoke and air pollution and also any radioactive material in the body.

Purchase Coseva’s TRS heavy metal spray  –

Faq about TRS –

MTHFR Genetic testing

Discover your genetic variations in an easy and most affordable way with the MaxGen lab testing at the comfort of your home. Mutations like an MTHFR that can be destructive in the long term for your body can be easily determined with the MaxGen lab test. 

The process is so simple:

  • Order the test kit 
  • Do a swab cheek test
  • Mail the sample to the MaxGen lab
  • Get the comprehensive report of your test sample

Benefits of MaxGen 

  • Comprehensive report
  • Most affordable test
  • Protects your data


Get full support on your detox journey