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1 What is MTHFR and Why is It Important?

What is MTHFR and Why is It Important?

Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

*Your mission is to raise awareness of MTHFR polymorphisms – why is this important?

Because it is SO prevalent and so damaging to millions and millions of people. Yet, with awareness, those with MTHFR polymorphisms can increase their odds of a totally healthy life if they just knew that their lifestyle, dietary and environmental exposures really speed up their risk for disease. It pains me to see people with these common chronic debilitating conditions on medications, suffering and only getting worse – especially children who never even experienced what life really may offer.

* What is the best definition of MTHFR that makes it simple for anyone to understand?

MTHFR is an enzyme that takes folic acid and changes it so the body can use it. Folic acid by itself is worthless – does absolutely nothing – until it is run through various enzymes in the body and transformed into forms of folate the body can use – such as methyl folate.

The problem is that so many people have MTHFR polymorphisms and so many people take just folic acid. 1 + 1 here does not equal 2, it equals 1.2 only. People need to stop taking folic acid and only take the active forms of folate – such as folinic acid and methyl folate. These can be found in uncooked leafy greens – yes – you have to eat salads. Daily.

* How did you become aware of MTHFR, and what motivated you to make it your professional crusade?

One afternoon, a lady asked me about natural treatment options for bipolar disorder. I began rattling off all the usual natural approaches to stabilizing those with bipolar disorder. For some reason, I felt my answer incomplete, likely because I had been out of medical school for a few years and I wanted to see if research brought forth anything new. So I hit the research and discovered that researchers were investigating bipolar and genetics, specifically MTHFR. I had no idea what MTHFR was so I entered ‘MTHFR’ into the medical research database, PubMed, which is the US National Library of Medicine’s research database. I was astounded by what came back to me. Over 3,000 papers at the time. Now it is over 5,200 papers just on MTHFR alone – and increasing.

As I scanned the research paper titles with MTHFR in it, I was amazed by how many conditions appeared. Cleft palate, hypertension, thrombosis, schizophrenia, myocardial infarction (heart attack), acute lymphoblastic leukemia, recurrent pregnancy loss – and this was just on page 1!! See for yourself –

I was so stunned that I never heard about this that I actually ‘tweeted’ about MTHFR – and I hardly ever ‘tweet’. The next day, I was bombarded by people who were looking for a physician knowledgeable about MTHFR. Needless to say, my knowledge was nil but I promised them that I would learn. To this day, I continue to learn the complexities of MTHFR and pass my knowledge onto physicians.

* Why is it important to educate people about MTHFR?

Do you want to think clearly? Do you want to be happy and avoid addictions to alcohol, cigarettes or drugs? How would you like to be free of, or avoid taking anti-depressants? Do you want to reduce your risk, or your child’s risk, of cancer, autism or Down’s syndrome? Are you prone to recurrent miscarriages?

If you answered yes to any or all of those, then you know why it is crucial to your health and happiness to understand MTHFR without even knowing what it is. Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

MTHFR is a highly important gene in your body that supports two critically important functions – one is neurotransmitter formation and the other is SAMe formation. When either of these is diminished, a myriad of symptoms and conditions appear and progressively worsen over time.

Now that you know how important it is, you need to know how common it is for the MTHFR gene to not work as well as it should. Why? Because 1 in 2 people have an area in the MTHFR gene that has an incorrect DNA base. This DNA base change is called a polymorphism. Poly meaning ‘many’ and morphic meaning ‘shape’. When the MTHFR gene has a polymorphism, the enzyme it produces has an altered shape. The altered shape reduces the functional ability of the MTHFR enzyme. The altered function causes decreased neurotransmitter function and decreased SAMe production.

Not good.

When neurotransmitters go down, you no longer can think clearly. You may not sleep soundly. You may be prone to biting someone’s head off over little things. You may experience the dark cloud of depression. All these are limiting your experience in life – but not only yours – but those all around you.

Physicians need to know how to screen and treat MTHFR polymorphisms so their patients can reduce their risk of numerous diseases and conditions. As a patient, your health may depend on it.

*Having only just learned about MTHFR very recently, can you please explain, for those who don’t know or haven’t heard, exactly what is it?

MTHFR is an abbreviation for the gene called, methylenetetrahydrofolate reductase. Basically, what the MTHFR gene does is produce an enzyme called methylenetetrahydrofolate reductase – yes, the same name. Genes produce enzymes and it is the enzymes that do all the work. Just like parents. Parents produce kids and the kids do all the work. Well – at least that is how it should be.

The job for the MTHFR enzyme is to convert one form of folate into the most active and usable form of folate in the human body – in every single cell. This form of folate is known as methyltetrahydrofolate, or commonly shortened as methyl folate. Methylfolate is a key compound that performs two critical tasks.

One, methyl folate helps make neurotransmitters in your brain. Neurotransmitters are what allow us to think, sleep, run away, express emotions and learn. When methyl folate levels are low, so are your neurotransmitters. Low production of neurotransmitters may cause conditions of addictive behavior, depression, anxiety, ADHD, mania, irritability, insomnia, learning disorders, and others.

Two, methyl folate also allows us to make a critical compound called s-adenosylmethionine also known as SAMe by many. SAMe is critical as it helps regulate over 200+ enzymes in the human body – this is second only to ATP, which is the body’s cellular power unit. Without ATP, life ceases. Without SAMe, life ceases. With decreased levels of SAMe, you, or your loved one, are at high risk of conditions such as cancer, infertility, miscarriage, autism, down’s syndrome, thrombosis, high blood pressure, speaking problems and so on. Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

* What are the methylation pathways and what do they do?

We first need to define methylation. Methylation is the act of taking a single carbon and three hydrogens, namely a methyl group, and having it attach itself to an enzyme in your body. When this methyl group attaches to an enzyme, the enzyme performs an action. A common action performed by methylation that you appreciate daily is the breakdown of histamine. A methyl group is made by the methylation pathway and it floats around until it finds a specific enzyme to bind to. In this case, the methyl group binds to histamine. When a methyl group binds to histamine, histamine breaks apart and goes away.

You can now figure out what happens if your methylation pathway is not producing enough methyl groups in this case, right?

Your histamine does not break apart and thus your histamine levels increase causing your nose to run, eyes to itch and your fingers to scratch.

Now, to discuss the methylation pathway.

There is only one real methylation pathway which has some secondary and tertiary backups.

The main methylation pathway’s main function is to produce SAMe in every cell of the body. If the main methylation pathway is not functioning for a variety of reasons, the secondary backups are triggered. These backups resume SAMe production but in limited places. This causes SAMe to be limited in certain areas of the body – such as the brain. It gets complex fast so that is all I’ll say about that here.

What is the function of SAMe? The function of SAMe is to simply take what is called a ‘methyl group’ and give it away to over 200 enzymes in the body in order to perform various critical functions. Some key functions of this freely donated methyl group are to –

– Protect your DNA. This is very important. For example, if your DNA is not protected, then it is susceptible to damage by viruses, bacteria, heavy metals, solvents, and others. Over time, this damage becomes significant and may result in cancerous cell proliferation.

– Reduces histamine levels! Repeating this so it sinks in. A methyl group given away by SAMe helps eliminate histamine from the body. Those with allergies or rashes may have higher levels of histamine and decreased methyl groups.

– Produce a key component for your cell membranes called phosphatidylcholine. The methyl group donated by SAMe helps build phosphatidylcholine which then gets incorporated into the walls of all your cells known as cell membranes. If these cell membranes become damaged and weak, the cells become fragile, allow toxins and harmful things into the cell, do not carry in useful nutrients and then they die. Excessive cell membrane damage leads to serious medical conditions such as MS, ALS, and cancer to name a few.

* Who are the people whose health can benefit most from an awareness of MTHFR ?

Simply – those who have the genetic polymorphism in their MTHFR gene – which remember, is one in two of us. Even those who do not have MTHFR polymorphisms benefit knowing about it as their loved ones or friends may have it and if they are made aware of it, they may impact their lives tremendously. How significantly you ask? Would you like to greatly reduce the risk of your friend or loved one – or yourself – from having a child with Down’s syndrome, autism or childhood cancers such as leukemia? What about miscarriage, addictive disorders, colon cancer? Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

Awareness is critical for all.

It should be mentioned that doctors need to be made aware of how significant MTHFR is because they are the ones managing the health of the patient. Thus, it is up to the doctor to inform the patient and screen them for MTHFR polymorphisms. Doctor, after all, means to teach.

* What is the most common misconception about MTHFR?

I love this question. Homocysteine. Many people think that MTHFR is all about elevated homocysteine. It is not and I refute this claim over and over with hard scientific facts. MTHFR is about methyl folate – not homocysteine. Homocysteine is an old, outdated laboratory marker that is easy to test for but not effective in identifying neurotransmitter deficiency or methyl group deficiency.

* Is there a connection between thyroid health and MTHFR?

Yes, there is – and we all know how prevalent hypothyroidism is. If one is hypothyroid, meaning their thyroid gland is functioning slowly, then the individual will have a sluggish MTHFR enzyme as well – even if this person does not have the MTHFR polymorphism.


Because the thyroid produces what is called T4, also known as thyroxine. Thyroxine helps produce the body’s most active form of vitamin B2 which is flavin adenine dinucleotide (FAD). Vitamin B2 must be converted into active FAD by thyroxine in order for the body to effectively use vitamin B2.

The connection between FAD and MTHFR is that the MTHFR enzyme must have an ample supply of FAD in order to function! If FAD levels are low due to low levels of thyroxine, then the MTHFR enzyme slows down causing low methyl folate levels. We now know from above that low methyl folate leads to low neurotransmitters and low SAMe. Not good.

* What can hypothyroid patients do, i.e. nutrition and lifestyle changes, to cope with MTHFR inhibition?

Hypothyroid patients must have their doctor monitor their TSH, T4, T3, and thyroid antibodies often in order to optimize thyroid function. If any of these values are off, then the thyroid function will be compromised and thus the MTHFR enzyme will be as well.

It is critical that doctors monitor all these markers and not just TSH. TSH measurement by itself is worthless. It is similar to someone asking you where the car keys are and you reply back, “Over there.” ‘Where?’ you ask again. They reply back, “Over there.” Not very helpful unless the person actually points where ‘there’ is or defines it better for you.

Key nutrients for thyroid function are magnesium, iodine, selenium, zinc, and tyrosine which come from eating – and absorbing – enough protein. Methylfolate, produced by the MTHFR enzyme, is also needed to help convert tyrosine into active thyroid hormone. Yes, both MTHFR and hypothyroidism make a viscous circle if not caught and corrected. Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

A lifestyle change for optimizing your thyroid would be to limit exposure to chlorine, bromine (bromide), fluoride- basically the other halogens. Why? Because these other halogens mimic the charge of Iodine which prevents iodine from binding to the receptor on your thyroid gland. If you have a bunch of chloride sitting on your thyroid receptors, how is iodine supposed to be bound to it?? Difficult – especially if one is iodine deficient and many American women are deficient in iodine. Unfortunately, testing for iodine levels is not very reliable. Talk with your doctor about how to monitor iodine levels.

Install chlorine shower filters for your shower, filter your drinking water, limit or avoid drinking soda as many citrus sodas contain brominated vegetable oil and limit exposure to fluoride.

Now we also have to worry about radiation exposure from Japan as well – especially in fish and dairy.

Environmental changes to protect your thyroid would be avoiding heavy metals such as mercury. Mercury and other heavy metals are very toxic to the thyroid. Mercury amalgams are researched to be an aggravating factor in causing Hashimoto’s disease. (

A massively pervasive food that negatively affects your thyroid is gluten. Removing gluten entirely from your diet may significantly improve your thyroid. This means 100% avoidance – not ingestion once a week or once a month – complete avoidance. This is especially important if you have celiac disease. (

* If you had to compare MTHFR to another health topic that was once “exotic” but has since reached critical mass in terms of public acceptance/comprehension in recent years, what would that other topic be?

Easy. Vitamin D. Vitamin D deficiency is incredibly common and addressing it is incredibly important as vitamin D has receptors on every single cell of the body. Our bodies do not do well when vitamin D deficient – and the number of diseases and conditions caused or worsened by a deficiency in vitamin D is staggering. It is important to be supplementing with Vitamin D3.

It is important to note that Vitamin D2 is not what our body utilizes. According to Suzy Cohen, America’s Pharmacist, this inferior form of vitamin D2 is what is sold in pharmacies nationwide. This inferior form is also what food companies use to enrich dairy products.

Have your doctor test your levels of vitamin D3 by using the 1,25-dihydroxycholecalciferol laboratory test. If less than 60, you need to supplement it. Breastfeeding mothers can supplement themselves with 6,000 IU of vitamin D3 daily and the nursing baby will obtain vitamin D3 through breast milk.

* Please explain the concept of epigenetics?

Epigenetics is what controls your genes. To define epigenetics requires breaking the word apart – epi meaning around – on the outside of – and genetics meaning genes. Thus, epigenetics is the ‘stuff’ around your genes. Genes do not read themselves or intentionally expose themselves by removing their protective histone layers. They want to be protected and safe from viruses, bacteria, heavy metals, BPA and other compounds. Genes are instructed what to do and it is epigenetics that tells your genes what to do. Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

For example, if you look at twins, why is that one twin gets Parkinson’s disease even though the other identical twin, who has the same genes, does not? Epigenetics.

Epigenetics are affected by what you eat and drink, your thoughts and emotions, your surroundings, what you inhale and touch and by what nutrients are available – either in excess or deficiency.

Just because you have a gene that is known to cause breast cancer, such as BRCA1, does not mean you will get it. Why? Right…epigenetics.

* What are some inexpensive, natural health solutions that can lessen chronic disease?

Prevention is key and we all know what to do – the question is are you willing to do them? Eating whole foods meaning unprocessed, unaltered foods from nature – and preferably organic and non-GMO. Having a positive outlook, laughing, surrounding yourself with good company and friends, taking vacations and enjoying what you do for a living along with being happily married or in a positive relationship. Limiting exposure to chemicals in the environment which we are all burdened with on a daily basis, such as formaldehyde in new clothing, carpets, furniture, and new home construction and fire retardants in clothing, bedding, couches, carpets. Drinking filtered tap water – not bottled water as that is plastic which contains bisphenol A. Exercising comfortably and not excessively.

Some other great ways which are not commonly known to lessen chronic disease are sauna or otherwise sweating at least a few times a week in order to eliminate stored toxins from our bodies. Belly breathing is critically important as we need ample oxygenation and ‘earthing’ which means walking barefoot on planet Earth at least 30 minutes a day in order to ground yourself. We are electrical beings constantly exposed to wireless signals, cell phones, electricity and these affect our cell-to-cell communication. Allowing our cells to freely communicate without this outside electrical influence is important. So – get out in nature, swim, hike, walk, run without your cell phone or electrical devices and preferably go barefoot when you can! Basically – unplug. Literally.

* Who should get tested for MTHFR and where/how does one get tested?

Everyone should get tested. Why? Because 1 in 2 people are affected and if one knows they have an MTHFR polymorphism, they know they have to be very proactive in taking care of themselves.

Testing for MTHFR needs to be seen as a screening test. If one wants to get pregnant, they test for MTHFR. If one wants to reduce disease risk factors in general and optimize their health, they test for MTHFR. If one wants to identify why their family seems to have more risk of neurological disorders, cardiovascular disease, cancer, depression or autism to name a few, they test for MTHFR.

If you approach your physician asking to screen you for MTHFR, two things will happen. One, they do not know what it is and two, they will state MTHFR is not a big deal and there is nothing to worry about – it is all a fad.

On the off chance you have a progressive, current physician, they will test you for MTHFR polymorphisms. A word of caution here.

Many insurance companies do not cover MTHFR testing and if they say they do, they still may come back and charge you an exorbitant fee. Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

That said, there are some reliable testing companies out there that do MTHFR testing reliably and affordably and may even be covered by insurance.

The two leading MTHFR testing companies are Spectracell Labs and Any Lab Test Now.

If you do not have insurance, out of pocket expense is not that bad, especially given the potential life-changing results you may obtain.

For more information on MTHFR test options – along with the ethical considerations of it – learn more about MTHFR testing here –

* What are your top recommendations for people with MTHFR polymorphisms?

Top recommendations for those with MTHFR polymorphisms are the same as those without MTHFR polymorphisms. It sounds odd but if you think about it, it makes sense.

MTHFR polymorphisms have been around for generations and generations – and they are being passed on at an even faster rate due to folic acid supplementation. (

I believe the poor choices in food, unhealthy environment, fast-paced lifestyle, corporate lobbyists and symptom-based medicine are contributing to the expression of MTHFR polymorphisms.

That said, it is critical people snap out of it and stop listening to the drug ads on TV imploring ‘Ask your doctor if this drug is right for you.’ I can tell you right now, it is not. People also need to be very active politically now because corporate lobbyists are what is controlling this nation’s food, water, medicine, and the environment.

The top recommendations in bullet form and to let you know – I practice what I preach.

 Eat whole, organic, non-GMO, free-range, wild foods.

 Stop ingesting synthetic folic acid supplements and folic acid enriched foods. Use only natural folates such as folinic acid and/or methyl folate.

 Eat foods containing natural folates such as uncooked leafy greens.

 Drink filtered tap water

 Avoid gluten and dairy products

 Belly breathing

 Positive thinking

 Laughter

 Get out in nature. We are, after all, mammals. Don’t forget that. We need natural settings.

 Love your occupation – if you don’t love it, switch.

 Family – participate with your loved ones and enjoy them.

 Friends – share and participate in activities.

 Exercise – enjoyable – not just a sweatshop. Participate in team sports, clubs.

 Sauna

 Build a medical team with progressive, forward-thinking MDs, NDs, DOs and other health professionals.

Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

* Is the Internet a good place to learn about MTHFR? With such a complex topic, how can one be sure to get accurate information?

Excellent question. As with anything, when there is ‘demand’ there comes forth a sudden burst of ‘experts’ in the area. MTHFR is not easy to address and the amount of misinformation out there is frightening. Even medical research has it wrong a lot of times. How can that be you ask? Well, if research approaches MTHFR from the wrong angle, it will appear like it is not a problem at all. Yet, if you approach MTHFR from another angle, it becomes an obvious massive public health issue that needs to be addressed.

The internet is a fantastic research tool but sadly it is plagued by people who think they are experts and provide a disservice to everyone they ‘help.’ Forums are especially scary but at the same time, they offer a very nice place for people to gather, share personal stories and progress reports.

I encourage people to read the research, participate in forums (anonymously) and read trusted websites out there. Just take what you read with literally a grain of salt. Does that help you or hinder you? Good question. It may just make you frustrated – and those with MTHFR polymorphisms definitely don’t need the aggravation.

When I began learning about MTHFR, I stated just that. “I am still learning about MTHFR.” Over the past few years, I have greatly increased my understanding of how the complex MTHFR enzyme works – why, what, how, when, and where. Then you add complexity to it by adding on all the other genes MTHFR interacts with – and there are a lot.

Imagine a lineup of dominos with MTHFR in the first position and all dominos after depending on the lead MTHFR domino to strike. If it doesn’t, there is no action. No action in your enzymes leads to disease progression.

* Why is your Web site a reliable resource for people seeking to learn more about MTHFR ?

Simply put – because I do my homework. If I state something, I cite research or I clearly state it is a working theory. I don’t BS or pretend I know something I don’t. If I don’t know something, I simply don’t write it or make up some answer, I simply say three words – “I don’t know.”

If people would stand up and understand that saying “I don’t know” is okay and useful, then medicine and other areas of life would be so much better.

I constantly read and critically analyze cutting edge research papers on MTHFR, methylation, nutrigenomics, one-carbon metabolism, mitochondrial function, and epigenetics. I love what I do and am totally engrossed and passionate about it as well. Why? Because I know it is going to change how medicine is practiced.

The medical model today is one that needs to be chucked out the window. The symptom-disease based model is highly ineffective and doctors know this. They are turning to naturopathic and functional medicine. The problem is these doctors continue to practice the same symptom-disease based model using supplements, herbs and other concoctions instead of drugs and surgery. Yes, this is an improvement most of the time but it still is not addressing the absolute underlying cause of why their patient is ill. Written by Benjamin Lynch, ND www.MTHFR.Net © 2013

I am educating other physicians about the new model that is emerging from all this and that is biochemical nutrigenomics. When a physician focuses on the patient’s lifestyle, diet, surrounding environments, hobbies, emotional status, biochemistry, genetics, and genetic expression, then amazing things happen. Just ask the doctors who have attended some of my conferences. The learning curve is steep and frankly a pain, but very worthwhile because once you learn it, you continue to perfect it and your patients get better faster – and faster.

There is nothing better to a physician than having to put a sign out on the front door –”Patients needed. All my other ones are healthy.”

Keep an eye out for my upcoming book on this topic. It will be available early Spring 2014 on MTHFR.Net and Amazon.

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