The Truth About MTHFR Gene Defects & 8 Essential things to do

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8 essential things to do, if you have or suspect an MTHFR gene mutation, including biohacking the MTHFR gene mutation with natural plant medicines. We break it down & look at the facts, and the truth you may not know about.

Yes, this rather rude sounding acronym has a ridiculously long name, but one that is becoming increasingly well known, even though MTHFR gene mutations are a relatively new finding.

So what’s the big deal?

We humans have around 20,000 genes. So why is this one so significant?

Because this gene defect now affects around 40% of people negatively. That’s a LOT of people! 14-20% of those individuals will have a more severe mutation that can drastically impact their health.

The Truth About MTHFR


The MTHFR gene is basically the one responsible for giving the body the information to make the MTHFR enzyme. This is the enzyme that converts folic acid into methyl-folate, the active form.

This is significant because without it many biochemical pathways will suffer and the most common result is high levels of homocysteine which has significant negative effects on your health.

There is an abundance of resources to help you learn about it if it affects you or a loved one.

I’m not presenting myself as an expert on this topic, but I’d like to provide a supplement to what is already out there by discussing the possibilities in the very exciting area of Epigenetics & Nutrigenomics.


Let’s break it down

Each of our trillions of cells contains instructions for making us, and these are encoded in our DNA. Our DNA is made up of genes.

If our DNA is the recipe book then our genes are the recipes

So this recipe is the instructions for making methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid (vitamin B9), MTHFR converts it into methyl-folate, folate’s active form.

This process is important because methyl-folate plays a role in just about everything your body does, and keeps your body running through methylation

Methylation isn’t just for detox, it’s also the process required for the creation of every cell in your body including neurotransmitters like serotonin, epinephrine, norepinephrine, and dopamine as well as immune cells and hormones like estrogen.

An MTHFR gene mutation can change the way you metabolize and convert nutrients from your diet and may also affect hormone and neurotransmitter levels, brain function, digestion, cholesterol levels, and more.

Research has even found an association with an MTHFR mutation and depression and other mental health disorders.

More on Methylation

Methylation is fundamental to the proper function of almost all of the body’s systems. It’s involved in:

  • Repairing and regenerating your cells, tissues, and DNA
  • Regulating gene expression and protein function
  • Synthesizing neurotransmitters that influence mood, sleep, behavior, cognition, and memory
  • Controlling homocysteine levels (an amino acid that can damage blood vessels)
  • Keeping inflammation in check
  • Assisting your liver in processing fats
  • Activating and regulating the immune system
  • Modifying toxins and heavy metals


So how do I know if I have an MTHFR defect?

Conditions associated with MTHFR include:

  • cardiovascular and thromboembolic diseases (specifically blood clots, stroke, embolism, and heart attacks)
  • depression
  • anxiety
  • insomnia
  • addictive behaviors
  • chronic fatigue
  • fibromyalgia
  • thyroid disease
  • Autism
  • bipolar disorder
  • dimentia/altzeimers
  • schizophrenia
  • MS & Parkinsons
  • allergies
  • chronic infections
  • colon cancer & other cancers
  • acute leukemia
  • chronic pain
  • drug/chemical sensitivities
  • nerve pain
  • migraines
  • infertility &/or recurrent miscarriages in women of child-bearing age
  • pregnancies with neural tube defects, like spina bifida and anencephaly
  • downs syndrome
  • congenital heart defects

Other signs are:

Fatigue, fogginess, sleep issues, high blood pressure, recurring sinusitis, asthma, headaches, neural pathway blockages, lack of oxygen, and inability to deal with processed food, including additives, and colorings, and other chemicals & toxins from the environment.

People suffering with even more complicated issues like chronic fatigue syndrome (CFS or ME), fibromyalgia (FMS), multiple chemical sensitivity (MCS), post-traumatic stress disorder (PTSD), and chronic inflammatory response syndrome (CIRS) who are having a hard time getting better is mostly due to blocked detoxification.

And this is most often due to MTHFR gene defects.


Babies have unique signs of MTHFR issues including:

  • Tongue and lip-ties
  • Stork bites (a particular birthmark)
  • Hemangiomas (non-cancerous blood vessel growth)
  • Sacral dimples
  • Facial dimples
  • Blue vein on the bridge of the nose, or ” sugarbug”

MTHFR in babies


Our son had a tongue & lip tie & a sacral dimple at birth, which was what prompted me to delve deeper into this area and learn how to support him in the best way possible.

Most children with Autism (70-80%) have an MTHFR genetic mutation, which impairs glutathione production, one of the most important antioxidants in the human body.

Glutathione deficiency alters many areas of health, with one major impact being decreased ability to detoxify and clear toxins effectively.   This is why some children handle vaccinations better than others.


So, if you suspect this may be going on for you, or any of your family members, you can get tested at 23andme but this is actually not essential and can be overwhelming with all the complex info you will receive.

And the truth is that we ALL have potential gene faults. It is not the gene mutation on its own that is the issue, and we can avoid the negative expression of ALL of them if we know how!

You’re not stuck with it, it’s actually a simple thing to bio-hack.



Biohacking is ‘do-it-yourself’ biology’. It’s taking responsibility for how our own body works. It is making changes & introducing a regime into your lifestyle to ‘hack’ your body’s biology to work optimally & feel your best!

One powerful way of biohacking our body is through the use of Nutrigenomics, which is using plant compounds to positively influence our gene expression.



A deeper look at what’s really going on

So as I’ve said, all of the above may be due to an MTHFR gene defect, or rather the epigenetic expression of these gene defects!

Stay with me! 😉

We will discuss Epigenetics in a bit more detail later, but for now, let me just reiterate that the faulty gene itself is NOT the issue!

The issue is that the fault is being expressed due to certain environmental & lifestyle factors encouraging the negative expression of the gene impairment.

You may have heard of the importance of a healthy lifestyle, and this is because there are certain lifestyle factors that will influence the way these genes are being expressed.

And this is called epigenetics.

Now we are seeing that this almost non-existant issue 30 years ago has rapidly increased to now affect up to 50% of the worlds population!

We have to be asking why?

I believe we are seeing the result of the rapid increase in toxicity in our environment & the epigenetic result this has had on our DNA which is then passed down to the next generation.


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The Truth About MTHFR

Nrf2 activation

There’s another reason some people with these issues really struggle to get better. This has to do with the Nrf2 biochemical pathways being blocked.

Nrf2 pathways, simply put, are the ones that up-regulate detoxification and antioxidant genes.

When Nrf2 is blocked, the glutathione (GSH) detoxification pathway that is so important for removing toxins stops working.

This is a big problem for some people!

We need to remove these Nrf2 blocks.

There are several things that can block the Nrf2 pathways, like certain molds (like Aspergillus sp), glyphosate poisoning, certain viruses like Epstein barre.

These are called epigenetic blocks since they are actually changing the way genes are expressed and blocking the functioning of these pathways. And they will epigenetically down-regulate the detox pathways too.

So if you are MTHFR gene defective, adding these issues into the mix will actually trigger the negative expression of this gene mutation, and really compromise your ability to get well.

Certain plant and sulfur compounds can actually turn on the Nrf2 anti-oxidant & detox pathways, and down-regulate the negative expression of our genes. And this is called Nutrigenomics.

Another very important piece of the puzzle!

Join our Facebook group to learn more about Nrf2 activation NOW.


So now that we’ve broken it down let’s look at what we can do about it!

If you fit the bill I suggest the following:


The 8 Essentials

So the internet is FULL of suggestions on how to change your diet & lifestyle to avoid symptoms & issues if you have an MTHFR defect.

Yes many of them will be helpful, but here I have listed by far the most important things. And if you scroll down, you will also find a protocol to address these factors:


1. Become a Gene Jedi!

Activating your Nrf2 pathways with nutrigenomics (using plant compounds to positively influence gene expression) is ESSENTIAL and will have the following effects:

– It will alter the way these potentially defective genes are being expressed by encouraging the down-regulation of the negative expression of this gene.

– Optimization of the detox pathways

– It will increase glutathione production – also vitally essential (see number 4).

Join our Facebook group to learn more about Nrf2 activation.

2. Address acidity, inflammation & oxidative stress

Detoxification is primarily an anti-oxidant based process, and when inflammation is high, anti-oxidants are less available, then detoxification will be lower resulting in the body hanging onto toxins.

When the body is acidic and inflamed, this is the perfect environment for pathogens like parasites & molds to breed, having a negative effect on our gene expression.

You can learn more about this here


3. Gut Microbiome repair

Avoiding overeating & supporting digestion is important.

Gut healing & microbiome rebalancing is vital.

Repairing the digestive system and optimizing the microbiome or gut flora balance should be one of the first steps in correcting methylation deficiency. This includes treating candida because the toxins it releases actually inhibits proper methylation.

Leaky gut results in a lot of inflammatory endotoxins and cell wall fragments produced by bad gut flora. Due to leaky gut, these endotoxins are then able to get into the blood and stimulate an inflammatory response.

They stimulate a strong gut inflammation that can dramatically diminish the entire detoxification system by 60%.

Avoid glyphosate & GMO gluten as this will exacerbate leaky gut & is very often a big part of the cause too.


4. Increase Glutathione production

Glutathione is a big deal!

It has been referred to as the “master antioxidant” and unfortunately, it decreases with age.

The most efficient way to produce more glutathione is by activating the body’s Nrf2 pathway. This is the key that unlocks the cells to produce copious amounts of its own antioxidants including glutathione.

You can’t possibly eat enough vegetables to compare to the number of antioxidants your body can produce when Nrf2 is activated. (Although, you should continue to eat all your veggies as they will help!)

Mold and certain viruses all have the ability to shut down the Glutathione pathway as a way of creating a more habitable environment for themselves.

Both mold and mercury are cleared by activating the Nrf2 pathways.


5. Get your homocysteine levels measured.

When methylation is an issue homocysteine can become difficult for the body to convert into glutathione – the chief antioxidant and detoxifier in the body.

This makes you more susceptible to chronic stress, toxic overload & other health complications.

Homocysteine can also become more difficult for the body to convert into methionine. This is an essential amino acid that helps protect the body from arteriosclerosis, fatty liver disease, anemia, free radical damage, and inflammation.

Low methionine levels also cause the body to produce less SAM-e, which is important for neurotransmitter balance & mental health.

Researchers have shown that the upregulation of nrf2 down-regulates the imbalanced effects of excess homocysteine.

Another huge reason to activate the Nrf2 pathways!


  1. Avoid the usual nasties!

Whether you have an MTHFR defect or not, this is important for ALL of us, because many of the common chemicals & other toxins we are exposed to on a daily basis will accumulate & eventually overwhelm the bodies pathways.

Having an MTHFR defect can make you particularly susceptible to this.

You may want to consider taking our free 7-day Toxin-free Life e-course.


If you are REALLY serious I’m pretty sure I’ve found the best course out there to take you through this process IN DEPTH.

I’ve learned LOADS from Alexx Stuart of Lowtoxlife. She offers:

ADHD natural remedy strategies

And also make sure you remove mercury amalgams from a trained holistic/biological dentist.


  1. Get good sleep & limit blue light before bedtime

Sleep is just SO super essential in all this & without good sleep patterns, it will be very difficult for your body to really heal.

You can read more about this here

good sleep


  1. Check your supplements.

If any of them has folic acid added, stop taking it. Your body won’t process the folic acid well, and it can build up inside you.

Avoid processed foods that have synthetic folic acid added to them. Your body will not be able to convert folic acid, only the naturally occurring folate. Make it a habit to check the ingredients so you avoid ingesting any added folic acid.

Some sources suggest supplementation with nutrients like B12, HOWEVER, there are cases in which supplementation can cause serious side effects, especially when high doses are introduced at the beginning.

This is often the case when the individual has other genetic mutations that interact with MTHFR.

My belief is that when we correct the Nrf2 pathways in the body over time, we will not need those supplements.

Get your folate from NATURAL sources, including cooked, dark leafy greens like spinach, kale, bok choy, and Swiss chard. Eat dark leafy greens daily

Folate foods


Here is our Protocol which addresses the above factors:

* Nrf2 activator will address the above factors 1-4. Plus since it increases the bodies own Glutathione production by 300%, it will begin to effectively detox the body.

The Nrf2 activator is a Nutrigenomic activator (not a supplement) and consists of 5 herbs.

Join our Facebook group to learn more about Nrf2 activation.


* Those who have leaky gut or other inflammatory bowel issues will need to add high-level therapeutic probiotic to their regime, plus avoid pesticides in foods, GM foods, gluten & other toxic or pro-inflammatory foods

I recommend something a little different than standard probiotics, and something I believe is far more powerful.

It’s a microbiome activator, which down-regulates the microflora we don’t want, and up-regulates the flora we DO want! It’s really advanced Japanese fermentation technology.

We particularly love that it’s vegan & non-refrigerated!

You can learn more &/or purchase here.


* Those with high homocysteine levels can also address this by taking the Nrf2 activator and should consider this a long-term, if not a lifetime part of their regime.


* Consider doing a course to get clear on how to eliminate toxic chemicals from your environment as best you can


* Those on the Nrf2 activator commonly report that sleep improves massively (as was also the case for me), however, if you feel you need additional support, consider blue-light blockers or avoiding blue screens at night.

This Sleep’ massage lotion is also fantastic (magnesium & essential oils) massaged into pulse points before bed. (contact me if you’d like to know how to get this for the wholesale price)


The power of Epigenetics

Our DNA is not our destiny!

You may have been told there is no ‘cure’ to MTHFR (or any other genetic-based disorder) since it’s genetic, that you are stuck with it.

But epigenetics is showing us something different!


DNA is like a musical instrument. It’s there, but in order to make music, it needs something, or someone, to play it. Turning genes on and off according to the sheet music.

What is that sheet music, exactly? Our lives. Our choices. The food we eat. The way we interact with stress. Whether or not we get enough sleep.

Our lifestyle patterns over time have a significant impact. Other factors such as toxic exposure & mold infestation, as discussed above, have a more dramatic impact.


Over to you

I hope this has inspired you to overcome the heavy weight around MTHFR gene defects & other genetic issues.

Please comment below!

better parenting skills


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The Truth About MTHFR


About the Author:

Sam Sundara is the creator of Holistic Mumma, a passionate writer, health coach, educator, and mum. With a background of 18 years as a natural therapist, in community services & counselling and a passion for spiritual psychology, Sam offers a holistic view to parenting & wellbeing.

One Comment

  1. kim johnson November 13, 2019 at 7:07 am - Reply

    Thanx for the useful and authentic information you have share with this article
    it will be surely beneficial for everyone.

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