My Guide to MTHFR Gene Mutation, MTHFR Testing & Treatment (2024)

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 hom*ocysteine
• 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

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. hom*ocystiene 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.

OPTION #1 – Doctor Appointment

This way isn’t really convenient in my opinion. Itdeals 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):

• hom*ocysteine 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.

OPTION #2 – At Home MTHFR Testing –23andme & Ancestry

Welcome to the world of DNA! So the easiest and cost effective way of getting your MTHFR gene test is getting a23andme kitor DNAAncestry home test kit.

UPDATED TIP: DO NOT buy from 23andme, it is way expensive ($200)! If you want to get a much cheaper pricepick 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. 23andme offers a cheaper kit for about $70 – $100 via their website.

I recommend 23andme test kits over DNA Ancestry test kits just because you can do more things withit. 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 thereare certain benefits you get with 23andme that you don’t get with Ancestry, likehealth 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.

Both 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 and AncestryDOES 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 (or other DNA site) and give it to 3^rd 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.

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 likeGenetic 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 3^rd 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 hom*ozygous or heterozygous. This option works for 23andme 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 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 screenshotof my MTHFR testing results. I have heterozygous (+/-) mutations on both MTHFR gene variants, C677T and A1298C. These mutations aren’t as bad as hom*ozygous 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 hom*ocysteine 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 levelsof hom*ocysteine produced.

According to Dr. Ben Lynch from MTHFR.net, the impaired function of the enzyme can cause or contribute to severe health problems and conditionssuch 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 hom*ocysteine. High levels of hom*ocysteine can be closely related to MTHFR C677Tmutations. It doesnot necessarily mean there will be high hom*ocysteine levels in a clinical setting even though heterozygous (+/-) or hom*ozygous (+/+) gene mutations indicates decreased activity of this enzyme.
As S-adenosylhom*ocysteine (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 hom*ozygous 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 hom*ocysteine 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 lesseningin any ofthe neurotransmitters or catecholamines. BH4 is also a cofactor in the production of nitric oxide. A dysfunctionalBH4 enzyme may cause emotional/ mental and/or physical symptoms. Lead, aluminum, and mercury may act as adrain 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 areThorne, 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, orExtrafolate-S are promising forms too.

The Best MTHFR Supplements for L-Methylfolate Brands (Doctor Prescriptions) to 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.