MTHFR Testing and Treatment for symptoms of this genetic mutation
MTHFR Testing and Treatment for symptoms of this genetic mutation

I’ve spent a lot of time on this article gathering information and talking about my own experience with MTHFR Gene mutation, MTHFR Testing, MTHFR Symptoms, and MTHFR Treatment.   I hope this helps you out in your journey!

What is MTHFR Gene Mutation? Why Should you Care?

So why should you care about the MTHFR Gene Mutation and should you get tested? You should care because if you have this very common gene mutation, your body cannot process crucial B9 (folate) efficiently.  MTHFR is a critical enzyme needed in the process of breaking down folate (Vitamin B9) and homocysteine for the body.

Vitamin B9? So what? B9 is a crucial vitamin that your body needs.  If you are deficient in B9 because your body can’t break it down, then your body is more at risk to develop certain life threatening diseases (see symptoms below), you may suffer from low energy, anxiety, depression, bipolar,  all because your body can’t process B9 (Folate) efficiently.  Folic Acid is usually a synthetic form of B9… stay away from this form as a rule of thumb because it blocks methylfolate from the blood brain barrier.

I don’t have depression, but recently for the last couple of years I have had really low energy levels, low drive to finish things with concentration, bad brain fog, and anxiety in public conversations.  My mother tested positive for the gene mutation, so there’s a high possibility that I will test positive too.

If you’re like me, you want to optimize your body to its fullest potential, so you can live the best life possible, meaning – more energy, no more brain fog, better mood, better concentration, better physical performance whether that’s playing sports or exercising for a better physique.  If you have this gene mutation, all of these will be affected to a degree and quite frankly I don’t have time for that. I have a busy life with all sorts of goals and priorities with limited time and I need to be performing at the top of my game.

Now as you already know, B Vitamins have an extremely important role in production of energy, brain function, and just overall function of the body.  In some cases, if you have this mutation, you might very well only utilize 10% of the B9 you consume.  In this post, I’ll discuss the overall information about the MTHFR Gene Mutation, statistics, options for MTHFR Testing and treatments, MTHFR and Autism, and all sorts of other great information.

I’ll also include my personal test results, experience, and what gene variants are affected so that you can follow along.

A good portion of my information that I am basing this post on was given to me by my doctor, Dr. Rawlins. Dr. Rawlins and his family had medically suffered for years from not being able to process B9 efficiently, so he is extremely passionate about the issue and studies it extensively.  He gives public lectures about the MTFHR deficiency almost every year to promote MTHFR Awareness.   His Powerpoint slide show can be seen here.

What does MTHFR Stand for? – MethylTetraHydroFolate Reductase Deficiency

The MTHFR stands for MethylTetraHydroFolate Reductase Deficiency.

MTHFR Variants

So far, there are more than 70 identified variant mutations of the MTHFR gene with about 40 mutations linked to diseases. Out of these, we are concerned about these two, because these are the most studied:

  • c677t variant
  • a1298c variant

Source: MTHFR Polymorphisms and Disease by ED. Ueland, Rima Rozen, Landes Bioscience 2005

MTHFR Statistics – How many People Suffer?

The US population affected by the MTHFR gene mutation:

  • 30% of the US population have both of the MTHR genes defective
  • 40% of the US population have one MTHFR gene defective
  • 70% of the US population have one or both MTHFR genes defective
  • 100% of the US population is exposed to environmental toxins, such as BPA, that directly affect this pathway. More on my BPA article and how it’s everywhere.

dangers of water bottle BPA and MTHFR

How effective is the body at processing folate with these mutations?

  • If you have BOTH genes defective and they are homozygous, your pathway to process folate is only 10 to 15% functional!
  • If you have One gene defective, your pathway to process folate is 55 to 70% functional
  • Dr Ben Lynch – an expert in MTHFR field tells us to be cautious.  Even if you DON’T have the gene defect, YOU STILL NEED TO BE AWARE BECAUSE YOUR ABILITY TO PROCESS FOLATE WILL BE AFFECTED BY TOXINS.  All of these numbers are affected by environmental toxins like pollution, heavy metals, food toxins, BPA, infections, etc.

SOURCE: Iverson Genetics

So, as you can see from the stats above, this is a serious issue and I believe that everybody needs to be tested.  There is a good likely hood that you have one if not both MTHFR genes defective.


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  • Easy checklist that walks you through the steps of MTHFR. (5 pages)
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  • Conveniently read it anywhere.
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MTHFR Symptoms & Risks

Here’s a list of all the known MTHFR symptoms that have FDA approval:

  • Anxiety
  • Depression
  • Memory Loss
  • Nerve Pain – (Diabetic Neuropathy)
  • High Risk Pregnancy

Here are all other known MTHFR symptoms and conditions that don’t have FDA approval but are more than likely linked or can be helped by following a MTHFR Protocol:

  • Fibromyalgia
  • Diabetes
  • Chohn’s
  • Colitis
  • Renal Failure
  • Chronic fatigue
  • Elevated homocysteine
  • Migraines
  • Alzheimer’s
  • Irritable bowel syndrome
  • Chronic pain
  • Bipolar
  • Schizophrenia
  • Down syndrome & Autism
  • More prone to viral infections. This is due to the fact that the methylation process is crucial in eliminating virus replication.
  • More Prone to retaining toxic heavy metals

MTHFR Symptoms and Risk Factors

Sources:

  1. Bottiglieri T. 2005. 29:1103-12
  2. Stahl SM. J Clin Psychiatry. 2008; 69(9):1352-53
  3. Sobczyriska-Malefora A et al. Blood Coagul Fibrinolysis. 2009; 20(4):297-302
  4. 4.Amilburu A, et al. J Physiol Biochem. 2201;57(2):71-80
  5. PDR® For Nutritional Supplements, 2001. ISBM: 1-56363-364-7:157-67
  6. Garg R, et al. Am Heart J. 1999;138:1082-7
  7. Bolander-Gouaille C, Bottigliei T. Homocystiene Related Vitamins and Neuropsychistric Disorders. France: Springer-Verlag; 2003
  8. Oskooilar N., et al. J Clinincal Psychiatry. 2009. 70(11):1609-10
  9. Mahabir, S et al. Eurpoean Journal of Clincial Nutrition. 2008;62:644-650

MTHFR Deficiency also causes the following:

  • Low Serotonin – necessary to balance out mood, anxiety, and happiness
  • Low Dopamine – Dopamine is your happy or excited chemical in your brain
  • Low Norepinephrine
  • Low Glutathione – this is absolutely needed for heavy metal toxin removal and memory
  • Low Tetrahydrobiopterine (BH4) – this is critical in nerve protection for the function of your neurotransmitters

Items that Aggravate the MTHFR Genetic Disorder

  • Heavy metals such as mercury, lead, aluminum usually found in fish, city water and other foods.
  • Poor diet of highly processed foods and chemicals
  • Medications – Glucophage, birth-control, levodopa
  • Anesthesia – a.k.a. nitrous oxide
  • Other diseases – diabetes and lymphoma
  • Other enzyme defects – methionine synthase and reductase, B6 conversion
  • Leiden Factor V, prothrombin 20210

MTHFR Testing – How to test for the MTHFR Gene Mutation

There are 2 main ways to test for the MTHFR gene- a doctor appointment or ordering an online at home genetic DNA test kit.

Doctor Appointment

This way isn’t really convenient in my opinion.  It deals with setting up an appointment with your doctor and taking a good 1-2 hours out of your day to get tested.  You’ll want to explain to your doctor that you want to be tested for the MTHFR gene mutation in your DNA.

ALSO, in addition to your MTHFR test, you might want to ask for the following tests that are in (OPTIONAL):

  • Homocysteine Levels – This seems to be optimal if under 6.3. If you’re over 7.5, you’ll want to take note and follow up later.
  • HbA1C levels – This is an estimate of your glucose intolerance. If you’re in the 5.5 to 8 range, that means you have a higher possibility of having problems with dosing methyl B12 and should be given every day.

The cost of these DNA tests usually cost around $200 to $500 and 1-2 weeks to get your results back.  This depends on where you go. Sometimes insurance covers it, but I have found out this is rarely the case.  My friends and family who took the test, were not eligible with their insurance.  Double check with yours just to be safe.

The next option… At home genetic testing which I prefer.

23andme.com & DNA Ancestry – At Home MTHFR Testing

23andme test kit - At home genetic testing kit for MTHFR gene mutation

Welcome to the world of DNA!  So the easiest and cost effective way of getting your MTHFR gene test is getting a 23andme kit or DNA Ancestry home test kit.

UPDATED TIP: DO NOT buy from 23andme.com, it is way expensive ($200)!  If you want to get a much cheaper price pick it up at Amazon right here – 23andme home test kit.  Now don’t worry, 23andme sells through Amazon so you are buying from an official seller. Also, Amazon’s shipping is way faster (2 days) and their return policy is amazing. If you have any problems, Amazon takes care of everything.  Hopefully this will save my readers some money.  I learned this after the fact.

I recommend 23andme test kits over DNA Ancestry test kits just because you can do more things with it.  For example, DNAfit.com (if you decide to use their nifty service) imports your 23andme raw DNA data automatically to create an OPTIMIZED diet and exercise plan based on your genetics.  It makes their service WAY cheaper by 50%.

Also there are certain benefits you get with 23andme that you don’t get with Ancestry, like health reports based on your genes… you can still get this information from the Ancestry DNA kit, however, you’ll just have to send your DNA data off to a third party site that I listed for you below.

Ancestry DNA Kit for MTHFR gene testBoth kits usually arrives in 2-3 days.  Once you get your home test kit, you follow the directions which have you spit in a vile, seal it, and then you package it in the same box it came in, and send it on its way.  The nice thing is that the box has prepaid shipping on it, so you don’t have to worry about paying anything. Simply package it up and send it on its way.

It will take about 2-3 weeks for the lab to fully analyze your DNA and prepare the results for you on your 23andme account online.  Now, 23andme.com and Ancestry DOES NOT tell you if you have the MTHFR gene mutation due to some legal issues, HOWEVER, they give you the FULL gene data from the analysis which you can have interpreted for free by a third party site.

Now… this is the coolest part …because you can then take your data from 23andme.com (or other DNA site) and give it to 3rd party websites which give you a FULL INTERPRETATION of your genes.  You’ll get to know very detailed things such as, “what MTHFR variants you have” or other traits such as “are you highly likely to become bald when you’re older?”, “Are you lactose intolerant?”, “how sensitive your body is to caffeine” or “What is your risk for certain cancers”.  Pretty useful information!

23andme still provides you with some neat information such as where your genetics come from and other physical traits you’re likely to have. If you’re still curious about 23andme.com and what you get with it, you can visit my 23andme review here (Coming Soon).

So anyways, back on topic, once you have sent your 23andme DNA test kit in and received your results online, you can then take your raw data and submit it to a site like Genetic Genie. Genetic Genie is awesome because it’s free! There are some other options below you can use to complete your MTHFR testing if you’re going through another DNA tester other than 23andme.

At Home Genetics Testing Kit Services:

  • 23andme.com – $200 –  (We already covered) – Go to Genetic Genie to easily import your data (FREE) to see your MTHFR genes. Save money and buy it on Amazon.
  • dna.ancestry.com – $100– Highly recommended as well – Go to Promothease or Livewello to import your DNA data to get MTHFR genes. Save money and buy it on Amazon.
  • Spectracell.com – $150 – Highly recommended by Ben Lynch of MTHFR.net.  This is a great option because, there are no other steps are needed, they test directly for MTHFR.

3rd Party Sites to Send Data to (interpretting MTHFR Testing Data)

Here is a list of 3rd Party Sites that you can submit 23andme and other DNA Data to:

  • Genetic Genie – FREE – This website analyzes and reports what MTHFR genetic variants you have, whether you’re homozygous or heterozygous. This option works for 23andme.com and Ancestry data.
  • Promethease – $5 – This website analyzes and reports a lot more information than 23andme does! Tells you all sorts of things like, physical traits, or what kind of cancers you are more at risk for.  This report also tells you about MTHFR, but it also has tons of information.  This option works with a lot of DNA testing sites.
  • livewello.om – $19.95 – Tells you about your MTHFR mutation and a lot more other genes. This has a nice set of tools for tracking and reporting well worth the price.
  • dnafit.com – $79 – This website will take your 23andme.com data and will analyze it and create a personalized diet and workout routine tailored just to you. I’m excited to try this next, so look out for a review soon.
  • See my whole list of other websites you can submit to (coming soon).

You can see my 23andme review (Coming Soon)

MY RESULTS:

I’ve provided a copy of my full MTHFR testing results.  I went over to Genetic Genie and uploaded my 23andme raw data to MTHFR and immediately spat out a PDF. Easy enough!

Download here -> My Genetic Genie MTHFR Test Results

So below is a screenshot of my MTHFR testing results. I have heterozygous (+/-) mutations on both MTHFR gene variants, C677T and A1298C.  These mutations aren’t as bad as homozygous ones (+/+), but still need to be addressed.

Below is more information about the MTHFR gene variants and what they are responsible for.

MTHFR c677t Mutation

One function of the MTHFR is to help convert homocysteine to methionine in your body. A
MTHFR C677T mutation means that the MTHFR enzyme might have some difficulty in performing its task leading to high levels of homocysteine produced.

According to Dr. Ben Lynch from MTHFR.net, the impaired function of the enzyme can cause or contribute to severe health problems and conditions such as Chronic Fatigue Syndrome, Fibromyalgia, IBS, many birth defects, Autism, Miscarriages, Multiple Sclerosis, Alzheimer’s, Bipolar Disorder, blood clots, Stroke, Sensitivity to Chemical, and many other conditions.
MTHFR C677T may also create high homocysteine. High levels of homocysteine can be closely related to MTHFR C677T mutations. It does not necessarily mean there will be high homocysteine levels in a clinical setting even though heterozygous (+/-) or homozygous (+/+) gene mutations indicates decreased activity of this enzyme.
As S-adenosylhomocysteine (SAH) builds up in the body, the COMT enzyme may become impaired. Suppressing the COMT can raise your dopamine levels in COMT V158M (-/-)… BUT for those who have a homozygous mutation with COMT V158M (+/+), the high level of SAH building up in the body can eventually lead to many mood swings and behavior problems according to Dr. Amy Yasko.

MTHFR a1298c Mutation

MTHFR A1298C gene is highly involved in the conversion of 5-methylfolate (5MTHF) to tetrahydrofolate (THF).

Unlike MTHFR C677T mutation we discussed prior, the MTHFR A1298C mutation doesn’t cause increased homocysteine levels. This reaction helps generate BH4 which is really vital for detoxifying ammonia. The gene consists of about 70% in MTHFR A1298C (+/+) individuals, and about 30% in people with a heterozygous (+/-) mutation.

BH4 acts as a governor to limit the rate of production of neurotransmitters and catecholamines including: dopamine, norepinephrine, epinephrine, serotonin, and melatonin.

A MTHFR A1298C + status may cause a lessening in any of the neurotransmitters or catecholamines. BH4 is also a cofactor in the production of nitric oxide. A dysfunctional BH4 enzyme may cause emotional/ mental and/or physical symptoms. Lead, aluminum, and mercury may act as a drain on BH4. So that is why it’s important to make sure your heavy metal levels are tested for and that your body has the ability to

Possible MTHFR Variant Results and Meaning:

Normal / Normal

This means that you are normal for the two common variants.

Normal / c677t

This means you are more susceptible to environmental damage and depression.

Normal / a1298c

This means you are more susceptible to depression and environmental damage.

677 / 677

This means you have all of the above problems but worse plus heart disease.

1298  / 1298

This is similar to variant 677 / 677 but is less heart disease and blood clots.

677 / 1298

This variant is the worst for heart disease, strokes, and blood clots.

MTHFR Treatment

In a nutshell, the MTHFR gene mutation is treated best with l-methylfolate (the active form of methylfolate), methyl B12 (methylcobalamin), and N-acetylcysteine (NAC).  It’s been discovered that by taking active forms of these vitamins, enables your body to bypass these metabolic glitches and compensate for your genetic and environmental issues. SO, as you can see, it’s important to perform MTHFR testing to see if you have this gene mutation.

Methylfolate vs L-Methylfolate

Are they the same? No. L ( or 6S ) is the biologically active form and the non-L ( or 6R ) is the non-active form.  Always choose the L form or the 6(S) form.  Here is a list of all bioactive forms of methylfolate:

  • L forms
  • 6(S) forms
  • L-5 forms
  • L-Methylfolate Calcium
  • Levomefolic Acid
  • Metafolin – (created by Merck)
  • Extrafolate-S(created by Gnosis)  Brands are Thorne, Methyl-life, Methyl-pro
  • Quatrefolic – (created by Gnosis)

It’s HIGHLY recommended to focus on getting a methylfolate brand that contains Metafolin (it’s been researched more).  If you can’t get Metafolin, then Quatrefolic,  or Extrafolate-S are promising forms too.

The Best L-Methylfolate Brands (Doctor Prescriptions) for treating MTHFR

Below is the suggested prescriptions and dosages by Dr. Rawlins.  Always consult your own doctor when it comes to dosages.  This outlines the average example for dosage. Deplin and these other brands are pretty expensive and generally are not offered on insurance plans.

Deplin

7.5 mg tablets, 15 mg a day.

Highly concentrated and pure active form of L-Methylfolate that your body can utilize. Deplin is the most popular and widely used methylfolate brand by perscription.  It increases energy and successfully treats depression and anxiety. The type of methylfolate inside Deplin is called Metafolin and is produced by Merck.  It’s one of the best studied forms of methylfolate. Deplin.com has some great information.

How much does Deplin Cost? Deplin can range anywhere from $100 to $150 in cost.  Deplin is the King of the hill when it comes to Methylfolate.  It might be way too spendy for some people but, if you calculate price/mg and it’s absorption, it’s generally the cheapest.

Note that not all people need this high of dose of Deplin.  I take a couple of 1mg Solgar Brand Methylfolate (with same form of methylfolate in Deplin – Metafolin).

Cerefolin NAC

1 tablet a day

This contains Methycobalamin B12, L-methylfolate, N-acetylcysteine.  This aides in forming more glutathione which is crucial in detoxing and increasing memory.

Meta NX

1-2 tablets/day

Methylfolate (B9), vitamin B6 (pyridoxal five phosphate), methyl B12 methylcobalamin. This prescription works great for about six months to one year and is great for nerve and surgical wound healing.

Prenatals that contain Methylfolate

  • Neevo & Neevo DHA
  • Prenate Elite
  • Thorne

The Best L-Methylfolate Brands (Over the Counter) for treating MTHFR

Solgar Metafolin

solgar methyl folate - 1000 mg - Metafolin

  • 1 mg Tablets (1000 mcg)
  • This is the brand i like using.
  • I usually take 3 of these a day since I’m
  • 120 Tablets
  • This has Metafolin in it – The best type.

Easily get Solgar Metafolin on Amazon.

 

Methyl-Guard (Thorne Pharmacuticals) 

  • Great option that has methylfolate with supplements
  • 3 mg of Extrafolate-S type methylfolate in it
  • 3 mg of B12 (methylcobalamin)
  • 90 mg of B2 (Riboflavin)
  • 45 mg of B6
  • 1.8 mg Trimethylglycine
  • 6 tablets are approximately equal to 1 MetaNX

Easily get  Methyl-Guard Pro on Amazon

 

I haven’t tried this option out.  I’ll let you know once I do.  I don’t have a personal say how the Extrafolate-S works for me, but it looks very promising and has great reviews on all platforms.  Thorne is a very reputable company as well.   This and the methyl pro option below is the closest thing I’ve found to a “all in one” MTHFR treatment.  It becomes a pain buying all the supplements and I’d rather have an all in one. But sometimes separating them out is nice because you can control dosage of individual factors – but it really depends on how sensitive you are.

Methyl-Pro Quatrefolic and B Complex Plus

  • 15 mg – 30 caps – (same high dosage as deplin!)
  • Contains high dosages of B1, B2, B3, B6, B12, and more!
  • Choose Extrafolate-S or Quatrefolic

About $45 @ Methyl-Pro

Methyl-Life Methylfolate 15 

  • 15 mg Tablets – 90 Chewable tablets (same high dosage as deplin!)

  • Magnafolate-C (6S)-5-MethylTetraHydrofolate)
  • This looks more expensive, but it’s just because you get 90 tablets instead of 30 or 60.

Easily get Methyl-Life on Amazon


All of these brands are good brands, but since Solgar has Metafolin in it, the same as Deplin (just not as much), this is the brand that my Doctor recommends and that I like best.  The Thorne one is also a good option with everything rolled into one pill for ease. Deplin can get kind of spendy $100 to $150 and I have not ran into anyone where there insurance covers the cost.

MTHFR Dosage

Methylfolate is not a pharmaceutical drug.  It’s a vitamin that your body needs. However, with that said, you can get nausea, have headaches, and other side effects if you take too much! Most people are prescribed way too much by doctors.  You could take a test and find out.  Dr Ben Lynch is one of the leader’s in MTHFR information and he has awesome information in general and with MTHFR dosing.

The cheapest way though is to start small with 250 mcg to 500 mcg. Pair it with a good B12 supplement.  See how you feel.  If you have no side effects, you can move up in dosage 1000 mcg (1g), 3000 mcg (3g).

Very rarely, you’ll need 15 g.  However, you can still test this out, just be aware that you might not feel too great.

MTHFR Supplements

Yikes! There are a lot of supplements recommended on this list!  In addition to the Methylfolate above, this is what I would take for the bare minimums for supplements if you are really low on money:

  1. Good Whole food Multivitamin & Mineral –  Garden of Life
  2. Vitamin B Complex – (B1,B2,B3,B6, B12) – in ACTIVE forms! – Thorne
  3. NAC – Source Naturals

If you want to learn more about individual items or buy more, here is the complete list.

Vitamin Methyl B12 (methylcobalamin) – ABSOLUTE MUST  

Methyl B12 is linked to how we process methylfolate.  You can take B12 multiple ways:

  1. Vitamin B12 Oral Tablets – orally dissolved tablets every day (it’s usually one but up to 4X/day)
  2. Vitamin B12 Oral Drops
  3. Vitamin B12 Injection

methyl-b12-jarrows-formulas

  • 60 Chewable Tablets
  • 5 mg (5000 mcg)
  • Jarrows is a good brand that Dr. Rawlins recommends. Thorne is another great one too.
  • Extremely Affordable

Easily get this on Amazon.

NAC (N-acetyl cysteine)

MTHFR NAC

  • 2-3 capsules a day
  • As discussed before, this helps produce glutathione which helps in eliminating heavy metals from your body which in turn helps with memory and optimizing methylfolate.

About $13 on Amazon

BH4 (tetrahydrobiopterin)

  • Take .025-0.05 mg daily
  • This protects your nerves and increases healthy functioning neurotransmitters. This is sometimes available at your local pharmacy. Call them to find out. If not, you can also order at Nutrimedical.com
  • You ESPECIALLY need this if you have the 1298 gene mutation.
  • I cannot find this anywhere online, let me know if you find something and I’ll post it.  I believe the reason is that you have to have a prescription.

Vitamin B6 (Paradoxical 5 Phosphate Or P5P)

Pure Encapsulations - P5P 50 (Activated Vitamin B6) - Hypoallergenic Supplement to Support Metabolism of Carbohydrates, Fats, and Proteins* - 60 Capsules

  • 25mg daily for the first 3 months – cycle off
  • This is the vitamin inside Meta NX. This vitamin tends to build up in some people after long usage and cause a headache that feels like a tight band around the head.
  • Stay away from pyrodoxine HCL form of B6, you want P5P – Activated Vitamin B6

About $14 on Amazon

Full Spectrum Minerals 

Full Spectrum Minerals - NOW

  • Take the daily Recommended Dose
  • This is a mineral supplement with amino acid chelate (AAC). Take one a day – NOW brand and others will do.

About $15 on Amazon

Vitamin C  

Vitamin Code - RAW Vitamin C

  • 1000-3000 mg up to 3 times/ day
  • This helps in regenerating your glutathione levels which is essential in chelating toxins from your body as well as increasing your bowel movements from 2 to 5 times per day.
  • Garden of Life is very high Quality

About $20 on Amazon

Vitamin D3  

Vitamin D3 - Naturewise

  • 2000 IU or more daily – D3 Test recommended
  • The Sunshine vitamin (hormone) which is critical for your health.
  • This has 5000 IU with 360 caps!

About $15 on Amazon

The Sun is the best form of Vitamin D3! Save your self some money!

Betaine or TMG-trimethylglycine 

  • 200-250 mg/ day
  • This adds tons of methyl groups to the amino acids that your body is using for its own methylation processes

Vitamin E 

high quality Vitamin E MTHFR Supplement

  • 1000 IU/day
  • Mixed tocopherols for the best balance

About $20 on Amazon

Milkweed Thistle (Silymarin) 

  • 150 mg/day

Epson Salt Bath 

  • Soak your body or your feet with roughly ½ to 1 cups of Epson salts 2 to 3 times per week.
  • The magnesium absorbs directly into your body which helps with improving mineral balance. It also adds sulfate which is a critical role in eliminating toxins built up. This is not well absorbed via digestion.

About $5 on Amazon – SUPER CHEAP

Zinc or take ZMA 

  • 20 – 50 mg/day (for Zinc)
  • Really important in eye sensitivity which is common in MTHFR defects. Helps detox, build and repair cells, regulate essential body chemical pathways. Great for brain, prostate, blood sugar, digestion function etc.
  • ZMA is a natural supplement used by atheletes and body builders that is awesome for sleeping better, repairing, increasing hormone levels naturally.

About $11 on Amazon (for ZMA)

Silymarin

  • 150 mg twice a day
  • Improves glutathione usage and protects the liver.

Glutathione SR 

  • 2 capsules a day

  • This is your body’s powerful antioxidant. It helps with detoxification and clearing heavy metals.

    About $17 on Amazon

Omega 3 

Get rich foods in omega 3’s like Flax seed, Chia Seed, or Fish oil supplements. Helps with the Brain and Nervous system healing and circulation.

  • This has both EPA and DHA Omega 3s – DHA is very important.  Look for a CLEAN, high quality fish oil with a great quality control program.

  • This company has a great reputation.
  • Another great company is Nordic Naturals that is highly trusted.

About $20-$30 on Amazon

The MTHFR Diet & Lifestyle

Here are some things that Dr. Rawlings recommends you can do to optimize your methyl folate levels and improve your symptoms due to your MTHFR gene mutations you find through MTHFR testing.

Get my easy checklist for MTHFR gene mutation, it walks you through all the steps, and gives you a list of all the highest foods in Folate and B12.

Email me the Checklist

Get Tested!  It’s Easy

  1. Order and complete an Ancestry DNA kit – $100. $10 OFF if you go through my link.
  2. Digitally send your DNA results into promothease.com – $5.
  3. Read through your results (perform a ctrl + F search function for “677” or “1298” to find the gene a lot quicker.  There is a lot of data in the promothease report!

Stop Eating Folic Acid!  (Folate vs Folic Acid)

Folic acid is a man mad supplement added to “enrich” foods. Ben Lynch explains the difference extremely well.

Eat All kinds of Vegetables

Vegetables have all sorts of vitamin and minerals in them, including folate as shown above.

Berries, Berries, Berries!

Berries especially blueberries have the active form of folic acid your body needs.

  • Blueberries
  • Raspberries
  • Strawberries
  • Huckleberries
  • Blackberries

Eliminate highly processed Food

  • This is commonly seen wherever you go now adays and is becoming common sense for being healthier all together.

Eliminate Heavy Metals

  • Get tested by your doctor and undergo chelation therapy
  • Look into getting your mercury fillings removed

Decrease Exposure to Toxins:

  • Water Filters
  • Locally Grown Foods
  • Organically Grown Foods,
  • Changing Your Diet: Foods you eat may

Exercise Regularly

Once again, this is common sense however sometimes overlooked. If you’re sitting all day, you NEED to be getting some exercise in there. Do a quick 15 min work out of pushups, situps and pullups in a circuit.  I use this pullup bar for the doorway so I don’t have to go out to the gym.

Exercise. You really don’t have an excuse. Fit it in there.

Focus on Supplementation (as Seen Above):

  • L-Methylfolate
  • Methylcobalamin B12
  • NAC
  • Vitamin C
  • BH4
  • B6
  • … See above for more

Minimize Exposure to BPA & BPS

(Estrogen Disrupters and Mimickers)

BPA highly affects your MTHFR pathways.

Here are a couple ways of minimizing contact:

  • Start eating in Glass or Ceramic
  • Wash with Hand soaps and Dish Soaps that don’t have BPA
  • Printer Inks and Receipts have BPA
  • Don’t drink from plastic water or juice bottles that contain BPA
  • Avoid Canned goods – they have BPA linings

Eat High Omega 3s

These are important for healing your brain and nervous system

  • Chia Seeds / Flax seeds
  • Avocado
  • Fish
  • Fish Oil Supplement

Lifestyle Activities that can help symptoms:

Working out your brain & body in these different areas will ease some of the symptoms:

  • Mathematics & Accounting
  • Engineering/ Problem solving
  • Creativity – Painting, carpentry, weekend house project
  • Listening to Piano & Classical Music
  • Playing structured music (classical)
  • Exercise!
  • Learn how to deal with stress better
  • Eliminate unnecessary stress, stop working over time
  • Stop listening to the news (stress)
  • Eliminate negative people from your life or create balanced relationships
  • Start balancing your life, health, work, family, and friends.

Great books to help with the emotional aspect of this gene are:

Foods Rich in Folate

  • Spinach
  • Romaine Lettuce
  • Lentils
  • Beets
  • Beans (navy, pinto, kidney etc)
  • Peas
  • Bell Peppers
  • Nuts
  • Okra
  • Seeds
  • Cauliflower
  • Broccoli
  • Oranges
  • Brussel Sprouts
  • Avacado

If you want to know there amount of Folate you get with each food, you can download my MTHFR checklist above.  It nicely explains micrograms of folate you get per serving

More Detailed Information about MTHFR

Genetic Variants of Folate Metabolism Schematic

For those really interested in the break down of folic acid and folate.  Here is a somewhat simplified schematic of how folate is metabolized.

MTHFR Genetic Variants of Folate Metabolism - Diagram Schematic

MTHFR Deficiency Diagram

Some more reaction diagrams for MTHFR deficiency for all you brianiacs out there.

SOURCE: Bottiglieri T, Reynolds E. In: Bailey LB, ed. Folate in Health and Disease, Second Edition. Boca Raton, FL: Taylor & Francis Group; 2009:355-380.

SOURCE: Sedwick, D.W. et al Antifolate-induced misincorporation of dUMP into DNA. Proc. Natl. Acad. Sco. V78,2,pp 917-921 Feb 1981

Folic Acid Blocks L-MethylFolate Diagram

Folic Acid blocks Methyl folate blood brain barrier

Bailey S. College of Medicine, University of South Alabama

MTHFR and Epigenetics – You can control your Genes

We cannot change our genetic code (maybe in the future we can), however, we can change how our genes are expressed.  Gene expression is not determined by only hereditary factors, but it is also influenced by our diet, toxic load, environment conditions and stessors, and current nutritional status.

THIS is better known as epigenetics.

This is a relatively new field, where researchers are hoping to understand how these genes are regulated and what is exactly affecting so that we may be able to change the expression of the gene.

If we can control the expressions of the MTHFR gene mutation, then we be ahead of the game.

MTHFR and Autism

Ok, here’s the scary part.

I thought this was astonishing to find out! Did you know that MTHFR 677 and 1298 variants are in 98% of children with autism? The primary damage leading to Autism Spectrum Disorder (ASD) in later life is more than likely to happen while the baby is in utero and / OR in the immediate post natal time frame.  Remember that there is a also a two hit model, being your genetic predisposition of your DNA and ALSO environmental stressors and challenges.  Toxins that we covered already above like heavy metal exposure and BPA that blocks your MTHFR pathways.

Source: American Journal of Biochemistry and Biotechnology, 2008

It was found that women not taking prenatal vitamins immediately before and during their pregnancy were 2 times more likely to have an austistic child.

Here’s the interesting statistic…

If women also had the MTHFR gene mutation, they were 7 times more likely to have a child with Autism!

Source: Epidemiology:July 2011 – Volume 22 – Issue 4 – pp 476-485

On another note relating to diet and autism, CDC admits Feb 28,08 that Thimerisol (a mercury containing organic compound which was widely used as a preservative in vaccines) “aggravates” autism in children with a genetic predisposition.  Using a dietary protocol to improve methylation helps improve Autism symptoms.

MTHFR Pregnancy / MTHFR and Pregnancy

If you are pregnant or are thinking about having a baby, you should definitely get your MTHFR test done!  You will need to supplement with a good prenatal vitamin, a good form of methylfolate and B12, and paying close attention to the other supplements needed above.

You might think it’s fear mongering to say that you’re risking your child’s life and future, but it’s better to be safe than sorry.


MTHFR Gene Test

If you’re interested in getting your MTHFR Gene test, the cheapest way would be going to Ancestry.com and ordering their DNA kit. Follow my steps I’ve outlined above.

Haplogroup Testing

Coming soon.


 

  • Hannah

    Do both 23andme tests give raw gene data? Or just the “Health and Ancestry” one?

    • Zack

      Hi Hannah, I did some research for you. Based on 23andme’s website, you get all the raw data with the lower $99 Ancestry Package.

      When viewing the ancestry package in mobile view at the bottom of the page it reads:

      “Raw Data Included: Raw data is for information purposes only; must not be used for medical or diagnostic purposes.”

      So i’m confident that you should get all the same data. This makes sense because you have the chance to upgrade to the health package at a later time without taking another test. So they use the same raw data. If you want to be extra confident, you can contact them on their website to verfiy.

      Also, you can get it for $20 cheaper on amazon. Here’s the link to it. http://amzn.to/2pJBAA0 .

  • Antonina Makeeva

    Thank you so much Zack for sharing all of this information, it is very good and practical article. After few miscarriages , I’ve been diagnosed with Mthfr 677C (+ +). I was extraordinarily fatigued all the time as well. I’ve changed my stressful and demanding job, and also taking Solgar metafolin and Thorne methyl guard supplements for a few months now. I am feeling better but still very tired sometimes. Are any particular blood tests are recommended to check the progress? Thx

  • Caron

    Wow is all I can say! I’ve been searching for a solution to Chronic Fatigue for years and recently took the 23 and Me test to confirm I have the MTHFR mutation (homozygous). Your research bundled a lot of things in one place which I have found very helpful as I begin to understand the things I need to do and not do in order to improve my overall health. I feel very blessed to have stumbled on to your site and am very thankful that you not only love solving problems but you also have a very kind heart and choose to share what you learn. Thank you!!