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MTHFR

The Mutation You Need to Know About

 

MTHFR (methylenetetrahydrofolate reductase) is the gene that is responsible for making the MTHFR enzyme, which is required for  metabolic processes that protect and repair DNA, switch genes on and off, and more. If the gene is mutated, the enzyme will not function properly — as much as 75% less efficiently.  If you have an MTHFR gene mutation and it is expressed, there could be serious health consequences that follow, including  increasing your risk of a variety of cancers, stroke, heart problems, depression, chemical sensitivities, migraines, and more. Some researchers estimate that as many as two thirds of the population have mutant MTHFR.

Unfortunately, MTHFR gene defects are rather complicated. Moreover, there are many different types of mutations on this gene, each with different implications.

The two primary types of mutation are the C667T and A1298C.  For each of these you can be either heterozygous (hetero meaning different, or half), meaning you have only one copy or half of the problem. Or you could be homozygous (homo meaning the same), which means you have two copies of the same mutation, or the whole problem.  In general, the more mutations you have, the more impaired your MTHFR gene and its enzyme.

For example, you could have one copy of the 667 and one of the 1298, or two copies of one, or two copies of one and one copy of the other…you get the idea. The more mutations you have, the more your pathways are impaired.

Roles of MTHFR and What Impairment Means to You:

  • Protects and repairs DNA and RNA: If DNA is not protected it is susceptible to damage by viruses, bacteria, heavy metals, solvents and other environmental toxins
  • Regulates the metabolism of folate: Un-metabolized folate may build up in the blood which can stimulate pre-existing cancer cells, promote cancer-friendly inflammation, and reduce levels of natural killer cells that usually inhibit tumor growth.  High folate may also increase homocysteine (HCY).  Elevated HCY can result in an increased risk of heart attack and stroke.
  • Glutathione  pathyway is impaired so homocysteine increases and glutatione decreases, which means environmental and emotional stress have a bigger impact; increased risk of disease
  • Less methionione to metabolize and clear natural and chemical estrogens  and may increase risk of inflammation, oxidative stress, fatty liver disease, heart disease, and anxiety.
  • Conversion of HCY to SAMe will be impaired.  SAMe supports some critical 200 reactions, including protecting cell membranes. If these cell membranes become damaged and weak, the cells become fragile, allowing toxins into the cells and prevent useful nutrients from entering these cells. Excessive cell membrane damage can lead to serious medical conditions such as autoimmune disorders. In general, immune function will be impaired and there will be an increased risk of depression, liver damage, and other issues.
  • Higher risk for migraines.
  • Folate and B12 levels may become unnaturally elevated in the blood, masking deficiency.
  • Important body chemicals like serotonin and dopamine depend on a healthy methylation process, so you may become deficient in them.
  • Detox may not proceed well, such that the body can become over-burdened by heavy metals such as copper, lead, or mercury, or by environmental toxins like BPA, or by normal body waste like excess estrogen. If copper levels become elevated, low ferritin may result, which can cause symptoms of anemia.

Common Signs You Could Have MTHFR Mutations:

  • Cancer; especially of the breast, ovaries, colon, cervix, liver, lung, prostate, or colon
  • Cardiovascular disease
  • Multiple sclerosis
  • Chronic inflammation
  • Alzheimer’s
  • Diabetes
  • Dementia
  • Insomnia
  • High blood pressure
  • Brain fog
  • Unexplained neuropathy
  • Chronic fatigue
  • Psychiatric disorders
  • Addictive behaviors, such as with excessive alcohol as well as drug addiction
  • B12 and/or folate levels are high
  • MCV is high (mean corpuscular volume)

Managing MTHFR Mutations:

  • Avoid taking folic acid or consuming foods enriched with it (bread, flour, pasta, crackers, etc)
  • Avoid taking drugs known to block or deplete B12 (such as metformin, Prilosec, Prevacid, etc.)
  • Eat 8-10 servings of vegetables and fruits daily
  • Eat more leafy green vegetabes such as spinach, kale, arugula, and watercress. The more folate (natural vitamin B9) in your diet, the better. This is because more folate means more opportunities to create the active form L-methylfolate.
  • Detox regularly with exercise (sweating), sauna, epsom salt baths, dry skin brushing, etc. (See Reducing Your Toxic Load below)
  • Limit caffeine
  • Engage in stress-reducing activities daily
  • Eat healthy fats such as olive oil, coconut oil, and avocado
  • Don’t smoke or spend time with smokers
  • Supplement with appropriate nutrients:
    • methyl B12 (with caution)
    • methyl-folate (with caution)
    • TMG (trimethylgycine)
    • NAC (N-acetylcysteine)
    • riboflavin
    • curcumin
    • krill oil or plant-based omega 3’s
    • vitamins C, D, E, and activated B6
    • probiotics
    • magnesium
    • zinc

Reducing Your Toxic Load:

  • Go organic with produce and animal products
  • Eat only wild fish; avoid farmed
  • Eliminate all artificial sweeteners
  • Do not use air fresheners or chemical fabric softeners
  • Use nontoxic laundry and cleaning products
  • Do not use Teflon, iron, copper, or aluminum cookware—use stainless steel
  • Do not use plastic wrap or plastic storage containers, especially with heat—use glass instead
  • Avoid unhealthy oils such as vegetable, canola, corn, and soybean
  • Use low VOC and no-VOC paints and air out new mattresses and rugs before bringing them inside
  • Avoid treated and processed wood furniture
  • Drink only filtered or spring water
  • Minimize exposure to BPA and other plastic chemicals
  • Avoid chemical pest-control substances; use essential oils and other non-toxic solutions instead
  • Avoid birth control pills as excess hormones can clog the detox system in the liver
  • Avoid char-grilled food
  • Avoid nitrous oxide (laughing gas) as it can deplete B12
  • Fill your home with toxin-reducing plants

Remember,  while we cannot change our genes, we can affect the way they behave. To learn more about MTHFR or the common signs of a B12 deficiency as well as possible signs your B12 is not working for you, schedule a consult with Elyn, or order the complete report HERE (there is a $10 charge for the report). 

Listen to Elyn talk about MTHFR on the Lillian McDermott Radio Show: MTHFR graphic

This information is for educational purposes only and is not a recommendation to forgo medical advice and treatment. It is not intended to treat, cure, prevent, or diagnose any disease or condition. This post does not represent medical advice nor should it be considered to be medical advice or a replacement for medical advice.  I encourage you to discuss this information with your integrative oncologist, naturopathic doctor, or conventional oncologist. Consult your doctor before beginning any supplement program. The information provided is from my research and not to be taken as scientific evidence.

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Some product links on some posts are affiliate links. This website is monetized in part through the use of affiliate links. This means that if you were to click on a link that is an affiliate link, and purchase an item after clicking on that link, I may receive a small percentage of the sales price. I only recommend products that I love and use often. Thank you for your support!

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