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What is MTHFR (Methylenetetrahydrofolate reductase) and how do you treat a MTHFR gene mutation?

What is MTHFR (Methylenetetrahydrofolate reductase) and how do you treat a MTHFR gene mutation?

What is MTHFR (Methylenetetrahydrofolate reductase) and how do you treat a MTHFR gene mutation?

MTHFR Gene mutation – Treating MTHFR

The cycle of methylation and the MTHFR enzyme is now being widely researched and discussed as we discover more about its many crucial functions. Treating the MTHFR gene mutation is crucial if it is expressing and contributing to a decline in your health. We now know more and more about how this cycle can cause a wide range of conditions and impact our overall health; including our energy levels, hormones, mental health, fertility, and detoxification. 

Our methylation patterns can be passed on to us by our parents and influence the gene expression of subsequent generations. They can also be influenced by diet and environmental factors which means, thankfully, there are ways to treat MTHFR gene mutations. 

A MTHFR gene test will help you find out if you have a problem with your methylation process and the MTHFR gene. This MTHFR test is becoming more mainstream and will help you identify the root cause of your ill health and enable targeted treatment to lead you back to the path of good health and wellness.

So, what exactly is MTHFR?

MTHFR stands for methylenetetrahydrofolate reductase. The MTHFR gene contains the DNA code to produce the MTHFR enzyme. This enzyme converts the folate you eat (DHF – dihydrofolate) into the active form (5-Methyltetrahydrofolate) in order to be used by the body.

If you have a mutation in the MTHFR gene, it will affect how much active folate you have available.

People may have one or two mutations, or no mutations, of the MTHFR gene. These mutations are called variants and differ from person to person.

Having one variant is less likely to contribute to health issues. Having two variants may lead to more serious health problems. 

These genetic mutations are referred to as SNPs, which is short for single nucleotide polymorphisms.

“Each SNP represents one difference in a ‘building block’ of DNA. Some SNPs have no effect on your health, serving as biological markers that occur about once in every 300 nucleotides. They help us locate genes associated with the disease, and sometimes play a more significant role by directly affecting a gene’s function.” 1

Other common types of genetic disorders caused by the mutation of a single gene include:

  • Cystic fibrosis
  • Sickle cell anaemia
  • Tay-sachs disease
  • Phenylketonuria 
  • Colour-blindness 

How would I know if I had a MTHFR mutation or problem with the methylation cycle?

Common symptoms of MTHFR gene mutation, or MTHF indicators, include:

  • Chronic fatigue
  • Miscarriage or multiple miscarriages 
  • Histamine intolerance
  • Increased risk of cancer
  • Hormone imbalance
  • Cardiovascular and thromboembolic diseases, specifically blood clots, stroke, embolism, and heart attacks
  • Depression, anxiety, bipolar disorder or schizophrenia
  • Colon cancer
  • Acute leukemia
  • Chronic pain 
  • Oestrogen dominant conditions such as fibrocystic breasts, fibrocystic ovaries, heavy periods, uterine fibroids, endometriosis, and severe premenstrual syndrome
  • Allergies, asthma, hives 
  • Migraines
  • ADD or ADHD
  • Learning difficulties at school / you may find it hard to concentrate
  • Elevated liver enzymes 
  • Elevated red cell folate
  • Chronic constipation or diarrhoea
  • Low vitamin B12 levels
  • Dizziness
  • Elevated homocysteine levels 2

MTHFR variants can also lead to serious genetic disorders such as homocystinuria, anencephaly and spina bifida.

MTHFR Gene

How does the methylation process work?

Every single cell and tissue in your body experiences methylation. DNA methylation is an epigenetic mechanism and an essential biochemical process that is part of our metabolism. It often modifies the function of the genes and affecting gene expression. 

Methylation is the addition of a methyl group (a carbon surrounded by hydrogen atoms) to a substrate and it occurs in the body a billion times per second.

MTHFR is required to convert folate into the active and usable form of methylfolate. MTHFR is involves in the process that recycles homocysteine (a common amino acid in your blood). This process produces SAMe and recycles biopeterin. SAMe donates it’s attached methyl group throughout the body to activate many key processes including DNA replication. SAMe is a molecule that is found naturally in the body and is involved in the formation, activation, or breakdown of other chemicals. These include hormones, proteins, phospholipids, and certain drugs. All these are extremely important nutrients in your body. 

Every step in the cycle requires these vital nutrients or certain reactions to occur in order for the next step in the cycle to occur. If the body doesn’t have the nutrients it needs, fewer methyl groups get added to a particular substrate (whether it is DNA, an amino acid, etc.) and the substrate cannot complete its functions as efficiently in the body.

If you have an MTHFR gene mutation, enzymatic reactions are reduced by 40-70%, and your homocysteine levels will be increased. 

When the methylation process isn’t efficient, your body won’t eliminate toxins efficiently. This means you may accumulate heavy metals which cause imbalances and, in turn, causes health issues. 

Someone with an MTHFR polymorphism may experience folate, vitamin B6 and vitamin B12 nutrient deficiencies. Early symptoms can include fatigue, premature grey hair, mouth sores, growth problems, brain fog, concentration issues, pale skin, lethargy, irritability, and weakness.

Even symptoms such as fatigue and susceptibility to the common cold can be contributed to improper methylation.

MTHFR and pregnancy

MTHFR and miscarriage

During pregnancy, as the foetus grows, there is an increased demand for the body to produce healthy DNA. “Maternal micronutrients (folate and vitamin B12) and long-chain polyunsaturated fatty acids interact in the one-carbon cycle and can influence DNA methylation. Any alterations in the one-carbon cycle can, therefore, alter the genome methylation and influence the expression of vital genes involved in key mechanisms like angiogenesis, glucose metabolism, lipid metabolism, and neurodevelopment that will program the foetus for diseases in later life.” 3

These diseases may result from:

  1. Impaired DNA synthesis and repair
  2. Changes in methylation that negatively change gene expression
  3. If there is a mutated MTHFR gene, the availability of active methyl folate is decreased. This DNA production and gene expression cannot happen as abundantly as required for the growing baby
  4. This process causes developmental disorders to occur in offspring, including neural tube defects, congenital heart disease, Down’s Syndrome and cleft lip/palate 4

MTHFR treatment and ways to support the methylation process

A variety of factors contribute to how efficiently your methylation cycle ‘runs.’ Factors such as vitamin intake, alcohol intake and exposure to chemicals can all modify the way you methylate. In some people, poor methylation is a matter of genetics.

Methylation should be addressed by making diet and lifestyle changes, addressing gut issues, and removing methylation competitors and inhibitors.

Nutrient deficiency is one of the primary causes of impaired methylation. These the two most important nutrients in methylation pathways are B12 and folate. Other nutrients such as methionine, cysteine, taurine, DHA, zinc, magnesium, potassium, riboflavin, niacin, pyridoxine, betaine, choline, and sulphur also play a role.

How we can work to improve the methylation process:

  • Consume only unprocessed or minimally processed food to reduce inflammation and burden on detox pathways and systems of elimination. This will also help you to avoid synthetic folic acid which is common in processed foods.
  • Eat lots of vegetables that are alkalising, full of natural folate and anti-inflammatory properties. The best dietary sources of natural folates are leafy greens, beetroot, mushrooms, shellfish, eggs, sprouts, beans and organ meats. Folates are very sensitive to heat and light and are easily destroyed by most cooking methods. This makes raw, leafy greens the best source.
  • Eliminate alcohol or cut down on your consumption of alcohol
  • Do not smoke
  • Maintain a healthy weight
  • Modulate your stress levels. Stress uses up methyl groups and cortisol ceases reproductive function.
  • Remove all environmental and household toxins
  • Eat organic foods wherever possible
  • Improve gut health
  • Aid detoxification by sweating through exercise, adopting a healthy whole food diet, consuming adequate filtered water, brushing dry skin and taking saunas
  • Consider Methylated B vitamins as a supplement

The Functional Medicine approach to MTHFR

Advanced Functional Medicine in Perth specialises in addressing health issues associated with MTHFR gene mutations / genetic polymorphisms and methylation issues.

We perform advanced testing of methylation and genetic testing to assess your MTHFR status and to ascertain whether you have polymorphisms in those genes. Blood tests will measure key markers of the methionine and folate cycles, for example, SAMe, SAH, homocysteine and various folate levels.

There are many key factors to understand when balancing methylation and understanding how other body systems interact with methylation. 

A compromised gut will impair methylation through bacterial overload as well as through toxin production too.

“Many Bifidobacteria are folate producers, while other bacterial genera, like Lactobacilli, are folate consumers. Gut dysbiosis can, therefore, lead to hypo- or hypermethylation, depending on which genera predominate. Restoring a healthy gut microbiota can help bring methylation back in balance.” 5

A lack of methylation will impact our neurotransmitters. Key neurotransmitters impacted include dopamine, serotonin and norepinephrine, these assist in controlling mood, behaviour, sleep, and overall mental health.

“Folate is…necessary for the proper biosynthesis of the monoamine neurotransmitters serotonin, epinephrine, and dopamine. The active metabolite of folate, 5-methyltetrahydrofolate (5-MTHF, L-methylfolate), participates in re-methylation of the amino acid metabolite homocysteine, creating methionine…There are few intervention studies of folic acid or 5-MTHF as a stand-alone treatment for depression related to folate deficiency; however, the studies that have been conducted are promising.” 6

At Advanced Functional Medicine in Perth, our experts also have a deep understanding of MTHFR and other enzymes that affect a range of functions within the body. Our services provide advice on factors such as diet, lifestyle and supplemental recommendations. They are based on your presenting complaints and understanding of blocks in your biochemical pathways. 

Through the analysis of your genetic predisposition to certain biochemical imbalances that may be contributing to your health issues, we can get to the root of the problem.

Call us to find out more about our testing methods and how we can help you return to optimal health.


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Jarrod Cooper – ND

Jarrod Cooper – ND

Jarrod Cooper - ND is the founder of Advanced Functional Medicine Australia. He is a Naturopathic Doctor with extensive functional medicine training from leading practitioners in the USA and worldwide.

He is leading the way with advancements of functional medicine, clinically implementing worldwide best practices in Functional Medicine throughout Australia.

Jarrod consults in person from Perth, Western Australia and also online via Telehealth throughout Australia and worldwide.

If you are looking for personalised treatment, we highly recommend contacting Jarrod Cooper’s Advanced Functional Medicine clinic in Australia.

8 Comments

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  3. […] Any folate supplementation should be taken in the form of folinic acid or methylfolate, rather than the synthetic form of folic acid, this is especially important with those with MTHFR.  You can read more about MTHFR here […]

  4. […] what do we know about thyroid dysfunction and its correlation to MTHFR? Can it be a cause of Hashimoto’s disease? If so, what is the thyroid treatment best for […]

  5. […] Find out more about the methylfolate pathway here. […]

  6. […] with MTHFR polymorphisms and should avoid Folic Acid (synthetic Folate). Folate supplements should be taken in […]

  7. Hal Deierlein on January 25, 2020 at 2:02 am

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