MTHFR, have you heard about it? What's the big deal anyway?

Warning! I'm going to get a bit geek squad on this weeks post. There will be big words...bear with me. I hate it too :) 

Have you ever heard of MTHFR Mutation? It seems to be getting a bit of attention lately in the Paleo/real food sphere and it inspired me to write a little bit about this very common genetic mutation. If you've been following a real food diet, reduced your stress, are getting good quality exercise and sleep lots but are still feeling blah, learning you have this mutation might just be the missing piece that you've been searching for. 

MTHFR AKA Methyl-tetrahydrofolate reductase mutation is a relatively common group of mutations that effect many major systems in the body. There are a few different types of MTHFR mutations. MTHFR C677T and A1298C are the most common and are responsible for breaking down the amino acid homocysteine.

Homocysteine is a sulfur containing amino acid that lives in your blood plasma. It must be broken down in the presence of B-vitamins (B6, B12 and B9/Folate).  High levels of homocysteine (aka that isn't broken down) causes scaring and possible damage to vessels, which can lead to a host of inflammatory diseases including cardiovascular disease, stroke, Alzheimer's disease ect ect.  

In normal folks, active folate, known as 5-MTHF or 5-methyltetrahydrofolate, works in concert with vitamin B12 as a methyl-group donor to convert homocysteine to methionine. When homocysteine is broken down into methionine, it's used by the body to help metabolize fats, make proteins, utilize antioxidants, reduce the risk of depression caused by sam-e deficiency. Methionine also helps to reduce systemic inflammation and convert estradiol into estriol (a pretty rad form of estrogen). 

About 50% of homocysteine is remethylated with the remaining 50% trans-sulfurated into cysteine which then uses Vit B6 to make glutathione.Glutathione is a key antioxidant and detoxifier in the body. In fact, some may even call it a master controller. The less glutathione you have the more you are susceptible to stress and toxic build up. Glutathione is a key element of may processes in the body including:

  • Cell mediated immunity (aka immune function)
  • Bile production
  • Liver detoxification
  • Removal of heavy metals
  • Cellular growth, proliferation and death

When you have an MTHFR mutation one or more of these pathways becomes less efficient or disrupted (depending on the particular mutation) resulting in diminished levels of glutathione or methionine. Low levels of these amino acids cause a host of generic symptoms such as fatigue, anemia, low B12, hypothyroidism...the list can go on and on. 

 MTHFR is most common amongst Mediterranean and Hispanic populations (~22%) but is also found in white European populations in about 5-15%, Japanese/Chinese 8-18% and only in about 2% of African populations. That's a lot of people when you think about it! 

How do you find out if you have MTHFR mutation?

If you suspect you may have this mutation or, like me, are just super curious you can find out a few different ways:

Exhibit A- My spit...ready for processing. I'll share my results in 4-6 weeks.

Exhibit A- My spit...ready for processing. I'll share my results in 4-6 weeks.

  1. Submit your saliva sample to a company such as 23andme. I just did this last week and am waiting for my results. I'm pretty curious to find out about my ancestry and my genetic make-up, not to mention my MTHFR status.
  2. Have your blood tested by your functional medicine physician. These tests are a bit hard to find in standard labs but ask to see what's available in your area. 





Saunas can be great detoxifiers when you are preparing to become pregnant. 

Saunas can be great detoxifiers when you are preparing to become pregnant. 

  • Consider a period of supportive detoxification 
    • Because MTHFR mutations can make it more difficult for your body to detoxify itself, consider a 3-6 month period of gentle supportive detoxification. Castor oil packs, saunas/sweating and gentle activity all support detox.
      • Eliminate all food sensitivities and allergies. You're body's detoxification system is overburdened and stressing it out by consuming foods you are sensitive too will only further contribute to poor health. Consider some allergy testing or follow an elimination diet for a period of time.

      • Avoid toxins: choose natural skin & household cleaning products. Consider removing any mercury fillings.

      • Drink clean filtered water

      • Lay off the booze and Fructose: (agave, honey, high fructose fruits): These substances get processed through the liver and can stress out an already stressed out organ. 

      • Eat a clean paleo diet rich in leafy greens (high in natural folate). Avoid any packaged foods that may be fortified with folic acid. Folic acid and unmethylated B-vitamins commonly found in fortified processed foods can be potentially very harmful to you. 

      • Eat proboitic foods which will help your body absorb nutrients from your foods by optimizing gut function. 

  • Practice Intelligent Supplementation:

    • I'm never a big fan of just throwing a heap of generic supplements at a problem. Warning...I'm about to rant! Supplement recommendations are based on averages not individuals. Having a genetic mutations does not mean that an individual will have every deficiency that may be associated with a specific each condition. It depends on the expression of each unique gene by each unique individual (think epigenetics). See your ND or Functional Medicine MD and have some testing done. This may include checking levels of homocysteine, essential fatty acids, vit D, Vit B12, folate, iron, iodine, ferritin, calcium and more. Supplement based on your individual deficiencies. Trust me, the money you save in useless and even potentially harmful supplements will more than cover the cost of additional testing. 

 pregnant or trying? 

Trying to become pregnant with an MTHFR mutation can create a few special challenges. Not to worry however, there are things you can do to support your body's special needs. Many women who are diagnosed with the MTHFR mutation and have healthy pregnancies. Here are a few things to consider.

Newly Pregnant? 

  • I don't mean to freak you out but you are at increased risk for blood clotting and preeclampsia. Your care provider may recommend taking an anticoagulant or low dose aspirin to prevent blood clotting and reduce the risk of these complications.
  • Your baby may also be at risk for for neural tube defects such has spina bifida which are caused by folate deficiency. Ensuring you have adequate folate levels in very early pregnancy (ideally beforehand) is critical to prevent this serious birth defect. If a supplement is required (quite likely) always choose folate rather than folic acid.
  • Elevated homocysteine has been associated with low birth weight babies and increase the risk of preterm birth. Continue to support your body's natural detoxification systems by not overburdening it with toxins or allergens. Follow the guidelines in the above section but stay away from saunas, which are not recommended during pregnancy.
  • Specific supplementation guidelines for pregnancy can be found on Dr. Lynch's Site and offer a few starting points. 

Struggling to become pregnant? See my recommendations above and try waiting a few months. You just may need a bit of time to detoxify and nourish yourself. A body that is toxic and undernourished (despite a clean diet) may not be ready for a baby just yet.

  • Consider genetic counselling  Learning what the odds are of passing on your mutation to your child can be important. New research is showing that babies with MTHFR mutations who are supplemented with methylated vitamins right from birth have a MUCH lower incidence of developing chronic and potentially life threatening conditions. 
  • See a health care practitioner such as a Naturopath or Functional Medicine physician to get your hormones in balance. In particular, estrogen and thyroid hormones may be all out of whack. These can play key roles in becoming fabulous and fertile. 
  • Does your partner have a MTHFR mutation? New research shows that spermatogenesis (told ya I'd be using big word ) aka sperm production is effected in Dads with this mutation. Read all about it here.
  • Supplement wisely according to your bodies own needs. Choose folate from whole food baed supplements and ensure you have adequate B12, iron, ferritin and Vitamin D levels. 
  • Got that burn? If you experience heartburn during your pregnancy it's important that you stay away from tums or other antacids which may block critical B12 absorption from your diet.  
  • Stress less: chillax....a mellow body functions at it's best and is supportive to our detoxification process. Practice daily meditation, relaxation, hug the ones that love you and for heaven sakes...laugh a little everyday. 

Laugh a little every day. As seen here, my friend Laurie thinks her hat is rather hilarious. Quite frankly, so do I. 

Laugh a little every day. As seen here, my friend Laurie thinks her hat is rather hilarious. Quite frankly, so do I.