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The odds are 50/50 you have the MTHFR gene mutation. Here’s why that’s a problem.

By Dr. Amber Hayden, DO

Studies suggest you may have up to a 50% chance of carrying a genetic mutation that could have a significant impact on your health. But you and your doctor may not be aware that this potentially harmful mutation has a very simple solution.

Women concerned they have the MTHFR gene mutation

This mutation takes place in the MTHFR gene (yes, you read that right — it’s an acronym for an enzyme called methylenetetrahydrofolate reductase.) With a MTHFR mutation, your risk of heart disease, cancer, diabetes, arthritis, Alzheimer’s and more increases signifcantly. Even worse, some women — up to 25% — may have double the trouble because they carry two variants.

Never heard of the MTHFR gene? Most women haven’t. Unfortunately, the research in this gene is still growing and many conventional practicioners are not aware of its potential risk. But with these mounting risks found in current studies, here is what everyone should know.

What is the MTHFR gene and why is it so critical?

MTHFR controls your ability to convert folate — the natural version of folic acid — into the active form your body can actually use. With a mutation of the MTHFR gene, most kinds of folate found in foods or supplements, you are unable to convert it to its active form so it just goes to waste. And when the conversion process fails or is incomplete, it can unleash a chilling cascade of problems.

But that’s just the start. Without adequate amounts of absorbable folate, levels of homocysteine in the blood skyrocket and your immune system, brain function and system for detoxification become impaired.

From there, it doesn’t take long for one or more of these distressing medical issues to surface:

  • Cardiovascular disease and stroke
  • Alzheimer’s disease and other dementias
  • High blood pressure
  • Cancer
  • Pre-eclampsia and recurrent miscarriages
  • Depression and anxiety
  • Glaucoma
  • Chemical sensitivities
  • Recurrent infection

You need the MTHFR enzyme to stay disease-free

MTHFR plays an essential role in the process of methylation. Methylation matters because its resposible for the completion of many essential biochemical reactions such as DNA synthesis and cell formation, which are important for optimal function of our central nervous system, immune system and more.

During methylation, MTHFR is the enzyme that converts folate into its active form, 5-methyltetrahydrofolate. When the process is working, this converted version is used in the body alongside activated vitamin B12 for another crucial conversion: turning the amino acid homocysteine into methionine.

Methionine is then activated into S-adenosylmethionine (SAM). SAM then engages the process of methylation by donating a methyl group (a common structural unit of organic compounds) to nucleosides, proteins, phospholipids, etc.

Methyl groups are important because they control:

  • Stress response
  • Energy production
  • Detoxification of hormones, chemicals and heavy metals
  • Immune response
  • Genetic expression, synthesis and repair of DNA

Fortunately, there’s a simple solution

Anyone who knows she has an MTHFR mutation should take a multivitamin that contains the active form of folate: methylfolate. Studies show that supplementation with methylfolate really does reduce levels of homocysteine and patients report improvement in their symptoms.If you already have been diagnosed with either a MTHFR mutation or elevated homocysteine (known as hyperhomocysteinemia), you should make an appointment right away to discuss the health implications with your doctor.

For everyone who hasn’t been genetically tested, we recommend that, if you have a family history of any of the illnesses shown above, or any inflammation-based illnesses, you should consider having the test yourself.

Of course, if you haven’t been tested, the safe thing to do is simple: just ensure that your multivitamin contains methylfolate. It’s more expensive than the alternative — but you’re worth it!

star Cut through the confusion about taking supplements with our article Should you take a multivitamin every day?
Last Updated: November 9, 2022
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