What is the MTHFR gene?

mthfr gene

MTHFR is among the most well-studied genes.

Some people refer to MTHFR as the mother f*cker gene because if you have you have a polymorphism in this gene, it has been linked to higher risks of cardiovascular disease, stroke, neural tube defects, Alzheimer’s disease, osteoporosis, depression, and some cancers! Yikes, that’s a lot of risks for 1 gene.  The great news is that as with most polymorphisms, we don’t have to pull the trigger on that gene, but we do have to understand how to prevent our risk of developing diseases if we know we have MTHFR.

MTHFR stands for methylenetetrahydrofolate reductase.  What that means in lay terms, is that when we eat foods that contain folate (vitamin B 9), the MTHFR gene goes to work and through a long process converts folic acid into 5-MTHFR.

Bear with me here, so if there is reduced cellular availability of 5-MTHFR,  according to Genetics Home Reference, this reaction is needed for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. If this cycle is reduced, serum or urine homocysteine levels may rise.

According to Thomas G. Guilliams, elevated plasma homocysteine is an independent risk factor for a wide range of diseases and a surrogate biomarker of folate status and/or kidney function. See if you have this polymorphism by signing up for the genetic report and click here.

Those of us with the MTHFR mutation, (me included) produce 30-70% less methyl-folate than someone without the mutation. But don’t worry, as stated in “Integrative Medicine” by David Rakel, “It is now understood that the  genotype-to-phenotype expression can be greatly influenced by dietary factors.”

How to support folate status and the MTHFR mutation:

1. Eat foods highest in dietary folates such as:

  • Blackeye Peas-cooked from dried- 1 cup contains 358 mcg of folate
  • Lentils-cooked- 1 cup contains 358 mcg of folate
  • Spinach-cooked- 1 cup contains 263 mcg of folate
  • Collard Greens-cooked or lightly boiled-1 cup contains 177mcg of folate
  • Garbanzo beans/Chickpeas-cooked-172 mcg of folate
  • Asparagus-cooked- 1/2 Cup contains 134 mcg of folate
  • Kidney Beans-1 cup contains 131 mcg folate
  • Eggs-pasture raised, non-GMO, organic-1 egg contains 23.5 mcg of folate
  • Beets-1 cup raw contains 148mcg of folate

Source: USDA Nutrient Database for Standard Reference, Release 15

2. Check your supplements for folic acid.  If you get cheaper quality supplements, they may contain “folic acid” which is synthetic folate and not processed properly by people with the MTHFR mutation. Lifespark Nutrition can assist you in finding the right supplements for your genes.

3. Avoid processed foods that say enriched or fortified such as enriched cereal grain products, ready to eat breakfast cereals, pasta, rice, and processed foods.

4. Monitor homocysteine levels. Recommendations are below 9

5. Supplement with medical-grade supplements such as folate, vitamin B12, vitamin B6, riboflavin USP, choline, N-acetylcysteine, betaine- (taken from Fourth Edition- Integrative Medicine- chapter 38 “MTHFR, Homocysteine, and Nutrient Needs,” Thomas G Guilliams, Ph.D.)





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