New Data, MTHFR Gene Variant May Increase Sensitivity to Toxins

MTHFR gene mutation symptoms and conditions
MTHFR – Gene Mutation

MTHFR is an enzyme responsible for the process of methylation in every cell in your body. It’s been compared to the garbage collection system. People who carry a MTHFR gene variant, up to 60% of the population, may be at higher risk for preventable diseases including heart disease, colon cancer, stroke, Alzheimer’s disease, and more. According to physicians and researchers who’ve been ringing this bell, MTHFR is very important in detoxification and several other metabolic pathways of the body through methylation. They emphasize that when MTHFR isn’t working properly, certain functions are compromised: 

  • Cellular Repair: synthesis of nucleic acids, production & repair of DNA & mRNA
  • Detoxification and Neurotransmitter Production: interconversion of amino acids
  • Healthy Immune System Function: formation & maturation of red blood cells, white blood cells & platelet production

It’s important to note that not everyone agrees about this topic… scroll to the bottom of this article for the CDCs position. That said, given the benign nature of the lifestyle changes, it’s definitely worth some further investigation.

Why should I care if I have a MTHFR mutation? 

Methylation is a core process that occurs in all cells to help your body make biochemical conversions, driven by MTHFR. The gene variant of this key enzyme causes impaired metabolism and conversion of important nutrients from your diet into active vitamins, minerals, and proteins that your body can use.

Perhaps even more concerning, is the claim that people with MTHFR variants have a harder time getting rid of toxins. That, combined with possible impaired nutrient absorption, may cause disruption in  

  • Hormone levels
  • Neurotransmitter levels
  • Brain function
  • Digestion
  • Cholesterol levels

Some physicians and researchers go even further, attesting that in cases of severe MTHFR deficiency, the decreased levels of methionine and S-adenosylmethionine adversely affect myelination and are thought to be an important cause of neurological problems.

Which genes are effected? 

MTHFR deficiency is an inborn error of folate metabolism that is associated with decreased methionine and S-adenosylmethionine, and elevated homocysteine levels. There can be one abnormal variant (heterozygous) or two (homozygous), which are passed down from parent to child. The argument is, the more variations you have, the more issues your body will have with methylating. 

Although there are over fifty known MTHFR variants, the two primary ones are called C677T and A1298. There are many variants in MTHFR that can cause a severe reduction in enzyme activity. In general, the thinking is that the more severely reduced the enzyme activity is, the more severe the phenotype.

My genetic makeup is MTHFR A1298C Homozygous, which results in between 50-70% loss of function. Because I am homozygous, it means that my children, parents and siblings have at least one recessive gene, maybe two. 

What are the possible symptoms, signs and conditions?  

I am going to list possible symptoms, signs, and conditions associated with MTHFR mutations. Keep in mind this is not a comprehensive list and is specific to the A1298C MTHFR mutation, which I have. This is a list my doctor provided to me with my lab results for possible related signs, symptoms, and conditions. It’s worth noting the word ‘possible’ in the heading for each category. Again, there isn’t consensus from the medical community on this topic. This is something you could discuss with your physician and get their opinion.

Possible Symptoms

  • Hypertension
  • Delayed speech
  • Muscle pain
  • Insomnia
  • Irritable bowel syndrome
  • Fibromyalgia
  • Chronic fatigue syndrome
  • Hand tremor
  • Memory loss
  • Headaches
  • Brain fog

Possible Signs

  • Elevated ammonia levels, blood pressure
  • Decreased dopamine, serotonin, epinephrine and norepinephrine, nitric oxide
  • Muscle tenderness
  • Ulcers
  • Pre-eclampsia

Possible Conditions

  • Fibromyalgia
  • Chronic fatigue syndrome
  • Autism
  • Depression
  • Insomnia
  • Irritable bowel syndrome & inflammatory bowel syndrome
  • Erectile dysfunction
  • Migraine
  • Raynaud’s
  • Cancer
  • Alzheimer’s
  • Parkinson’s
  • Recurrent miscarriages

Obviously, even my doctor emphasized that having an MTHFR mutation doesn’t automatically mean I will experience the symptoms above. Additionally, these possible symptoms would depend on which variant exists and whether the variations affect both of the MTHFR genes. In other words, there’s some complexity there related to the specific gene variant for each person.

What can I do about it?

My doctor emphasized that my low carb lifestyle is ideal for this condition because it reduces packaged and fortified foods. Other than continuing that way of eating, she emphasized adding more fresh, organic, Folate & B12 rich foods. With a little research, I identified some key foods that appear on multiple lists of recommended folate and B12 sources. I’ll be adding more of these into my diet.

  • Beef (grass-fed)
  • Eggs (organic, free-range)
  • Salmon
  • Sardines
  • Broccoli
  • Collard greens
  • Spinach
  • Asparagus
  • Avocado
Grass fed beef high in folate and beneficial for people with mthfr gene mutation
You can receive more folate from a moderate helping of grassfed beef liver than from nearly any other food on the planet! Eating a 3.5 oz. serving provides 65% of the recommended daily value!

Foods to AVOID. Thankfully, the only thing on this list I have to adjust is the alcohol. I do love some red wine after a long day. That said I can cut back and substitute a skinny margarita sometimes. In general, the recommendation from my doctor is to reduce these foods

  • Foods ‘fortified’ with folic acid (most granola bard, cereals, flours, etc.)
  • Vegetable oils (use olive oil, coconut oil, grass-fed butter, ghee & avocado oil instead)
  • Processed grains
  • Refined Sugars (white sugar)
  • Alcohol, especially wine and beer. Prefer tequila, vodka, & mezcal if you do drink. 
  • Conventional, non-organic dairy

Toxins to avoid. According to advocates, MTHFR A1298C has no adverse effect on 5-methyl folate production, but it does compromise the “backward” reaction, whereby 5-methyl folate is converted back in to THF, in the process generating one molecule of BH4.  DHPR is the enzyme that regenerates BH4 from BH2.  It is poisoned by 

  • Mercury
  • Lead
  • Aluminum  

These toxins are widespread in our environment, and individuals with Methyl Cycle abnormalities may have particular trouble dealing with them.  The result may be a progressive drain on BH4, a progressive impairment in neurotransmitter production, and conversion of arginine not into nitric oxide but instead into free radicals such as superoxide and peroxynitrite. Some common sources of toxins are: 

  • Plastics
  • Chemicals in beauty supplies
  • Cleaning products
  • Fragrances

Supplements. Nutrients from food are great but if you find yourself unable to procure food rich in nutrients you need then you might need to talk to your doctor about taking some supportive supplements. I’m not a huge fan of supplements, to be honest. I’ve taken a multivitamin and extra vitamin D on the recommendation of previous doctors.

That said, I’m always open to supplementation if my doctor recommends it, primarily since they tend to be skeptics too. That said, not all brands and formulations are safe and can be a huge waste of money if they’re not needed, and in the worst-case dangerous.

Some supplements to discuss include

  • Methyl-B12
  • Methyl-folate (active form of folic acid)
  • TMG
  • N-acetylcysteine
  • Riboflavin
  • Curcumin
  • Fish oil
  • Vitamins C, D, E
  • Probiotics

CAUTION! As always, speak with your doctor before changing medications and/or adding supplements.  

ADDITIONAL CAUTION!!  If you are double homozygous for MTHFR mutations like me, you should advance carefully with methyl-B12 and methyl folate supplementation. Some patients with this type of mutation can’t tolerate high doses. Also, avoid taking high doses of niacin (vitamin B3), which can hinder methylation.

What are you taking?

These are the supplements my doctor recommended (except this specific brand for D and K) for me based on my specific gene variant, other medical conditions and overall health. Please consult your doctor for specific recommendations that might be safe for you.

Supplements recommended for mthfr gene mutation
The vitamin D and K will have to be replaced.. it has maltodextrin as a non-active ingredient which I avoid. The multivitamin is a a PreNatal because it happens to have the right form of folate.

Omega 3 – $22 for 45 days

Magnesium – $9 for 90 days

Multivitamin – $43 for 60 day supply

Vitamin D3 + K2– $17 for 60 day supply. My doctor didn’t recommend a brand, she just said that if the multivitamin she recommended didn’t have as much Vitamin D as the one I’m currently taking, to add additional Vitamin D. I got this one since it’s the same brand as the Magnesium, then realized it has maltodextrin in it… which I try to avoid. I’ll take these, because I’m cheap, and then find another brand with cleaner ingredients.

**BTW, B12 is already in the multivitamin, and my levels were good when she checked them. 

Other than supplements, what else can I do? 

Ask your doctor if you should get your homocysteine levels measured. Your body’s ability to convert homocysteine might be impaired if you have an MTHFR mutation. If your homocysteine levels are abnormally elevated, it can result in an increased risk of heart attack and stroke. Cognitive impairment, mood disorders, congenital defects, and pregnancy complications may all also be increased.

High homocysteine levels also appear to be correlated with incidences of PCOS. No one agrees on an upper limit for safe homocysteine levels. 5-15 micro mols per liter is thought to be average, but that varies from person to person.

If your homocysteine levels are high, talk to your doctor about possible supplementation with methylcobalamin, vitamin B2, vitamin B6, and of course, 5-MTHF.

Detox regularly. If you don’t detox and your body also has trouble detoxing, the body can become overburdened by heavy metals such as copper, lead, or mercury, or by environmental toxins like BPA, or by normal body waste like excess estrogen.

Reduce stress. High levels of stress can exacerbate MTHFR mutation symptoms. Everyone deals with stress in different ways. Become aware of the top stressors in your life and begin taking steps to reducing or offsetting those stressors.

How can I get tested? 

A genetic test can determine if you have an MTHFR gene mutation and which variation affects you. If you suspect you have an MTHFR mutation, work with a medical provider that will order the correct tests to help get to the root cause of your symptoms and rule out any other possible issues. This test can be ordered by any physician and is often covered by insurance, although you’ll want to confirm coverage based on your specific plan. 

Does everyone agree about MTHFR significance?

Absolutely not. As a matter of fact, there are conflicting opinions worth noting. The CDC in particular has been vocal about this topic, dismissing many of the claims you read here in this article. I encourage you to read different perspectives and discuss this with your physician before making any changes to your diet, supplements, or lifestyle. This is especially true for women of childbearing age.

The good thing is, most of the recommendations are things that would improve your health anyway. The only real risk is investing in vitamins that have the active form of methyl-folate.

Why are you so interested & what’s your personal opinion?

I recently found a new physician and she recommended the test based on a few observations. The first was anxiety which has been an undercurrent to daily life for the last 10 years or so. I’ve managed it successfully with lifestyle habits, and one low dose medication I’d like to discontinue. It’s also a side effect of another medication I take for MS, that I cannot discontinue. Based on the propensity for anxiety and side effects of a necessary medication, she recommended I do everything possible to reduce anxiety, to make the transition easier.

In addition to the lifestyle habits I already embraced, exercise, keto diet, and making sleep a priority, she recommended I cut back on alcohol (like a few glasses on the weekend, sometimes during the week) and get this gene test. In her opinion, having this gene variant increases the risk for anxiety.

For me, given that the vitamins she recommended are not expensive, and with my low carb lifestyle don’t eat processed or fortified foods anyway, it’s a low-risk proposition with some upside if she’s right. Avoiding toxins is already an interest of mine, and probably could be improved with a little more effort. All in all, I plan to try her recommended protocol for three months as she suggested, then reevaluate.

I’ve been taking the vitamins for the last week and I can tell a drastic improvement in energy… so far that’s very encouraging. That said, who knows if it’s improving methylation or is just a superior vitamin to what I was taking previously. Either way, I’m grateful for the energy boost!

Where can I get more information? 

This article is a fraction of the information available on this topic. The sources listed below were used in the preparation of this content. Check them out for more detailed information.

Methylation Problems Lead to 100s of Diseases

The Gene Mutation That Affects 40% of People

What You Need To Eat (And Avoid!) For MTHFR

Good Foods For MTHFR: What To Eat 

Eating Grass-fed Liver Induces an Amazing, Healthy Pregnancy

MTHFR Gene, Folic Acid, and Preventing Neural Tube Defects

Kelly is a shameless critic of the 'weight loss' industry that profits from women being overweight, unhappy, and confused. Kelly has spent the last 20 years as an industry under and seen the damage misinformation can do in women's lives first hand. After her own personal journey back to health, Kelly created this space in love to help other women to access the science of biohacking to achieve an ideal weight, look younger and bring their spirit back to life. Kelly is a mother of two, fitness executive, and road warrior.

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1 Response

  1. January 6, 2021

    […] for the MTHFR gene variant. Read more about MTHFR and how common it is in my recent article, New Data, MTHFR Gene Variant May Increase Sensitivity to Toxins. I was more prone to anxiety and rather than feeling defeated, somehow that news made me feel […]

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