Super Mom Nutrition

How a gene mutation can influence your cycles and fertility? - MTHFRMagyar verzió

How a gene mutation can influence your cycles and fertility? - MTHFR


What is MTHFR?


MTHFR is a gene, that provides instructions for producing an enzyme, called methylenetetrahydrofolate reductase.


What does it do?

  • It processes amino acids (building blocks of proteins)
  • It takes part in B9 (folate) metabolism: converts 5,10-MTHF to 5-MTHF (5-methylenetetrahydrofolate), this is the active form, that the body can use
  • Supports DNA repair and cell growth


Why is it important?

  • Vitamin B9, B6 and B12 are used to convert homocysteine into methionine and cycteine.
  • Homocysteine is an amino acid (building block of proteins), a by-product of protein breakdown.
  • When we eat proteins, like meat, poultry, fish, legumes etc, it first gets converted into homocysteine, then into methionine and cysteine, if there’s enough B6, B9, B12. This is the only way to eliminate homocysteine.
  • If there isn’t enough B6, B9, B12, homocysteine can’t get eliminated from the body and homocysteine levels get built up in the blood stream.
  • Increased levels of homocysteine can cause different health issues: atherosclerosis (leading to heart attack, stroke), deep vein thrombosis, pulmonary embolism, Alzheimer’s disease, dementia, clotting, pre-eclampsia, miscarriages, and there might be a relationship with PCOS and infertility as well.


Where’s the issue on this picture?


  • As I mentioned earlier, the MTHFR gene is responsible for the enzyme, that generates 5-MTHF, the active form of vitamin B9.
  • People, who mostly eat processed foods can’t get enough natural vitamin B9 through their food.
  • Processed foods might be fortified with vitamin B9, but it’s mostly the synthetic folic acid form, what they use.
  • Most supplements with B9 are made with the synthetic B9 as well, since it’s cheaper than the natural formula.
  • And the main problem is: people with an MTHFR gene mutation can’t properly convert the synthetic form, folic acid into the usable 5-MTHF, the active form. The conversion rate depends on the form of MTHFR gene mutation. With a heterozygous mutation the conversion rate is lowered by up to 30%, with a homozygous mutation the conversion rate is lowered by up to 70%. These people might face some level of B9 deficiency.
  • Around 40-45% of people are affected by this MTHFR gene mutation.
  • Taking the synthetic folic acid won’t have any positive effects to the health of people with homozygous MTHFR mutation. (C677TT)*.
  • These people need to ingest 5-MTHF to support homocysteine elimination and their health.


Plenty of ladies, who want to get pregnant, start taking prenatal multivitamins, since they want to make their body ready for pregnancy and they want to avoid neural tube issues with the baby and preterm birth. But these supplements contain mostly folic acid, the synthetic form. That form is useless for people with MTHFR mutations, since they can’t convert it into the bioavailable 5-MTHF form. In their case 5-MTHF supplementation might be needed.


People with MTHFR gene mutation has trouble to eliminate heavy metals. The not eliminated heavy metal gets accumulated in the body. Heavy metals can affect hormone levels, and through them the menstrual cycle and fertility. So keeping an eye on heavy metal levels might be beneficial, if someone has issues on the field of fertility, PCOS or other related issues.


If we call homocysteine the bad guy, then let’s name a good guy too: glutathione. Glutathione is a master antioxidant in our body. Low levels of glutathione are linked to fertility issues for both men and women. How does it come to the picture? We need the active form of vitamin B9 to make glutathione. People with MTHFR mutations, who can’t convert enough 5-MTHF (active B9) from other B9 form, might not be able to produce enough glutathione either.


Vitamin B9 is used at phase 1 liver detoxification too. If one or more elements, that are needed for detoxification, are missing, then the efficiency of detoxing ability is lowered. Our own used estrogen and the ingested phytoestrogens are eliminated through this mechanism in a normal case. This helps to prevent estrogen dominance and support hormonal balance. But if a cofactor, like the active form of vitamin B9 is missing, then we might face several issues.


The story doesn’t stop at vitamin B9. Remember, that I mentioned, that we need vitamin B12 too, to get rid of homocysteine (that can cause so many problems, if it gets accumulated in the body). Vitamin B12 has 4 major forms. Most supplements contain the cheap synthetic form, cyanocobalamin. But some people can’t utilize that form, even worse, they have to pick the right natural form … But I’ll write about it in the next article.












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