MTHFR By Alane Stieglitz, ND, CNC

MTHFR is the abbreviation for methylenetetrahydrofolate reductase. MTHFR has everything to do with genes, folate, folic acid, homocysteine, heart disease, and b vitamins.

Many people are concerned, and they should be, about whether or not they have a the MFHFR gene mutation. MTHFR has to do with whether your body uses B vitamins correctly or not. MTHFR is necessary for converting homocysteine to Methionine. The amino acid, Methionine is needed for proper metabolism, muscle growth and for glutathione which is the #1 antioxidant to be made.

There are TWO main variants within the MTHFR gene mutation.  Having just one (heterozygous) is unlikely to lead to health issues. But some people have TWO mutations (homozygous) which can lead to symptoms and specific health concerns. One MTHFR gene mutation is calledC677T,” and another is called A1298C. These MTHFR gene mutations are inherited, so if a child has TWO, he got it from his parents. At conception, you receive one copy of the MTHFR gene mutation from each parent. If both parents have mutations, your risk is higher.

Some symptoms of MTHFR gene mutation
heart disease, depression, OCD, anxiety, bipolar, some cancers, pain, fatigue, nerve pain, migraines, miscarriages, hyperactivity, poor detox, and poor methylation

What is Homocysteine? Homocysteine is an amino acid and breakdown product of protein metabolism linked to a higher risk of heart disease, heart attacks, and strokes when present in high amounts. Homocysteine can also lead to a higher plaque level in the arteries and puts people at risk for Alzheimer’s disease. People with the MTHFR gene deficiency usually have higher homocysteine levels and need extra folate and b12.

When MTHFR is a concern, we suggest these tests, to give you answers and a clear direction.

* MTHFR Genotyping – for both of the mutations.

*Comprehensive vitamin/mineral testing that is intracellular will check the needed nutrients that involve MTHFR. These include B vitamins, folate, choline, B6, Riboflavin, and B12.

Cardio – Metabolic Testing here is where you look at all cardio health markers, including homocysteine.

Note: All three can be collected in the same test kit as the same lab performs all of them. They provide precious information on your health and wellness. All test results come with thorough lab analysis and a personal protocol, so you know what to do for better health.

Why is MTHFR Genotyping Important?

  • Specific mutations in the gene coding for MTHFR produce an enzyme that has reduced activity.
  • Reduced activity can lead to elevated homocysteine levels (a.k.a. hyperhomocysteinemia), especially when folate levels are low.
  • High homocysteine (>13umol/L) may double the risk of developing illness or complications.
  • MTHFR gene mutation testing can provide information about potential causes of elevated homocysteine and approaches for addressing it.
  • Based on MTHFR and homocysteine results, physicians can develop dietary and medical recommendations—increased intake of folate alone or in combination with vitamins B6 and B12 are recommended.
  • Based on results, recommendations for methotrexate dosage can be adjusted.

Can I just folic acid? The answer is No. Folic acid cannot be converted to the usable form of methylated folate. Folic acid, then, can be built up in the body and raise homocysteine levels, leading to heart disease.

Personal Story: As I aged, my homocysteine levels went up. Of course, I, too, got my blood tested and found that my homocysteine levels, along with insulin levels, were pretty high. I immediately went on folate and hydroxy b12, and my levels improved. I eat well, love life, but we have a genetic issue with MTHFR. If I can have it, so can you! One of my children had a blood clot, he is fine, he had a double gene deficiency, taking folate he noticed improvements in his health and even in his veins.

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Medical disclaimer: Our tests cannot be used to diagnose, treat or cure any disease. All test results are to be used as educational materials and as a guide to help support your overall health and wellness. Always discuss health concerns with your medical doctor.