MTHFR: Secret Enzyme With A Huge Impact


Science has only recently identified a common gene mutation that’s a silent driver of many common ailments of which, the public is mostly unaware. Many physicians are still not aware or testing for this importance enzyme’s presence in our body. The MTHFR gene mutation was once thought to effect 3 – 5% of the population. As as a result of improved testing methods we now find the MTHFR mutation is currently estimated to impact 30-50% people depending on ethnicity. This enzyme has a profound influence over everything from hormone regulation to body toxin removal and numerous nutritional deficiencies.1

We have combed the latest research to provide you with the most comprehensive and easy to understand summary of what is necessary to know concerning the MTHFR gene:


What Does the MTHFR Gene Code For?

MTHFR is an acronym for the enzyme methylenetetrahydrofolate reductase, often referred to as “the detox gene.” The actual scope of this enzyme is much wider than the term detox gene would suggest. This enzyme is responsible for breaking down folic acid into a usable form called 5-L-methyltetrahydrofolate, and is coded primarily in the two genes C677T and A1298C. 2

When this enzyme can’t be produced or is diminished because of this mutation or a partial mutation, then lots of important downstream physiology is disrupted. One big impact is hindering methylation in the body. Methylation is required for health by every cell in our body and occurs billions of times per second.

Areas negatively impacted include DNA repair, immune function, detoxification, neurotransmitter production, hormone regulation, mood balancing, energy production and more.3

Examples of Critical Methylation in the Body:

1. Neurotransmitter Breakdown: epinephrine & melatonin

2. Hormones: Testosterone & Estrogen

3. Toxin Removal

More specifically these two genes when mutated are associated with the following:

C677T – This mutation is most commonly associated with heart disease, heart attack, stroke, blood clots, peripheral neuropathy, anemia, miscarriages, congenital birth defects, and more.

A1298C – This mutation is most commonly associated with chronic illnesses such as; depression, fibromyalgia, chronic fatigue syndrome, migraines, Irritable Bowel Syndrome (IBS), memory loss, Alzheimer’s and dementia, obsessive compulsive disorder (OCD,) bipolar disorder, schizophrenia, and more. 3

Populations Containing Mixed Gene Mutation 4

Depending on how many of the four locations are mutated will determine methylation reduction from 25% – 80% and beyond.

What Are The Signs of MTHFR?

There are many health consequences of MTHFR that when not addressed through diet and supplements interfere with methylate and contribute to serious diseases. As was noted previously, there are a number of genes that code for MTHFR; the genetic code that produces he enzyme impacting methylation efficiency. Sensitivity to medications, high homocysteine levels, low tolerance for alcohol and pain are some of the symptoms of the gene’s effects on health.3

More severe symptoms can be broken down into the three categories.

  1. Psychological
  2. Autoimmune/Toxic
  3. Cardiovascular 

1. Psychological

Addictive behavior
Autism and other spectrum disorders
Adult neurological conditions
Mood and psychiatric disorders
Behavioral disorders
Bipolar disorder

2. Autoimmune/Toxic

Fibromyalgia/Chronic Fatigue Syndrome.
Cancer. *
Autism – 98% of autistic children have the C677T and A1298C anomaly. Kids with autism are often low in homocysteine & glutathione. 5
Down’s syndrome

Allergies or Multiple Chemical Sensitivities
Spina bifida, cleft palate or neural tube defects
Multiple Sclerosis
Hashimoto’s or Hypothyroidism (The Thyroid Summit)
Lyme Disease*
Chronic Viral Infections, Low T cells or reduced NK cells
Miscarriages, fertility, and problems during pregnancy
Allergies, immune system, and digestive problems
Problems associated with aging
Chemical sensitivity

3. Cardiovascular

Pulmonary Embolism
Depleted CoQ10
Cardiovascular Disease
High blood pressure
Neuropathy – methylation is important to nerves (myelin sheath).

Related Blog –

Liver and Kidney Detox: A Comprehensive Guide To Optimal Wellness

* Many of those listed are not directly implicated a result of MTHFR, i.e Lyme and cancer. Clearly Lyme disease is a bacterial infection, but because the immune system is dependent on methylation in order to function these and other opportunistic diseases are more likely to flourish. As an example, a reduction in natural killer cells, T cells and a more susceptible intestinal tract will lead to a body more prone to disease. Similarly with other listed, MTHFR is a contributing factor among many variables.

What To Do To Offset MTHFR?

Supplements and adjusting to diets high in the following compounds will offset the methylation issues MTHFR produces.


Production of glutathione is particularly vulnerable to becoming ineffective when the body is depleted. As a critical compound used in the liver for detoxification its absence places stress on the liver as the toxins and heavy metals accumulate. Getting this into the liver directly can’t be done because it will be used by other cells first. The best way is by secondary precursors like SAMe, MSM, NAC and milk thistle.

Betaine (trimethylglycine – TMG)

Betaine is a natural derivative caused by the breakdown of choline in the body. Betaine is found in beets, although spinach and quinoa contain twice the amount of betaine. For a Methyl donor, the body derives more benefits from SAMe and MSM.


Critical compound needed for methylation and when in combination with milk thistle multiples its effectiveness. Always choose a milk thistle supplement that includes choline for best results; we choose phosphatidylcholine for its added benefit to intestinal support.

B Vitamins; B2, B6, B9, and B12, B9 (Methyl-folate)

Critical for hormones, red and white blood cells (WBC) and glutathione production; B9, folate and folic acid are almost interchangeable. When the body requires methyl-folate the MTHFR gene mutation will not convert B9 into the methyl-folate enzyme. While folic acid is synthetic and very stable making it the favorite of vitamin companies, it’s not the best choice and is useless in the presence of the MTHFR gene mutation. Folic acid also requires many vitamins and cofactors to transition to its useable methyl-folate form. You are much better off just finding a good formula with this already present as in Hepatiben.

B6 & Magnesium

This combination lowers homocysteine levels, which improves relaxation and the ability to handle stress. Gluten free diets will need a B6 supplement.

B12 (Methylcobalamin)

Deficiencies in Methylcobalamin will stop the cycle of methyl-folate from continuing proactively forward after about a week. 8
Important: In the case of over methylation with any supplement, use niacin.


Liver Medic formulated Hepatiben with MTHFR in mind. It contains SAMe, MSM, NAC, and Choline (Phosphatidylcholine). The missing B vitamins in their methylated forms can be found in Zen Calm, which also has the Mg that most people require when they are deficient in healthy adrenal support. This protocol is followed by physicians and patients alike.*

It’s important to recognize that Hepatiben is not designed to treat, cure or prevent MTHFR or any other disease. The MTHFR gene mutation reduces methylation in the body and Hepatiben is formulated to promote methylation and is therefore helpful in supporting those with the mutation.

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