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That Mother F*er Gene Mutation: MTHFR and Infertility

Here’s a little science for ya: In healthy females (and males) , the MTHFR gene writes the genetic script for making an enzyme called methylenetetrahydrofolate reductase. This enzyme helps in processing amino acids – which then go on to build proteins. How so? Methylenetetrahydrofolate chemically reacts with vitamin B9 (aka folate) to produce methionine. The body uses methionine to pump out proteins. Ya follow?

But with all genes, there is of course the chance of mutation. And it just so happens that around 30% of us carry a MTHFR mutation. One blip in the script and folate can not longer metabolizes efficiently. Without folate metabolism, amino acids (and thus protein compounds) become deficient in a multitude of bodily processes.

In the case of infertility, folate metabolism affects ovarian function, implantation, embryogenesis and the entire process of pregnancy. Since the MTHFR mutation results in low absorption of folic acid, it is linked to neural tube defects,  increased homocysteine concentrations, and recurrent miscarriages. One study found that patients with a MTHFR gene mutation undergoing IVF/ICSI treatment had lower serum estradiol concentrations at ovulation and fewer oocytes retrieved.

The short of it? : Any folate we eat must be converted into L-methylfolate (5-MTHF) in order to be used by the body. L-methylfolate is the form that cells and tissues can utilize.  People with the MTHFR mutation have trouble with this conversion.

But the good news is, with proper supplementation, you can reverse the effects of the mutation.

The many forms of B9:

Folate is the natural form of vitamin B9, occurring naturally in some veggies like dark leafy greens, brocolli, and lentils.

Folic Acid is the synthetic  form of vitamin B9 that is typically added to cereals and packaged goods to boost global B9 levels and fight against folate deficiency related health conditions. But note that people with MTHFR gene mutation are unable to convert Folic Acid into the bio available form known as L-methylfolate or 5-MTHF.

Instead of buying a folic acid supplement, those with MTHFR mutation should supplement with L-methylfolate, since it  bypasses the entire folic acid metabolism cycle.

Since signs and symptoms of an MTHFR gene mutation are wide and variable from person to person, ask your doctor to test for it if you are diagnosed with unexplained infertility or recurrent miscarriages. They’ll be able to then recommend over the counter dosages of L-methylfolate based on your presentation. It may just be that missing piece of your fertility puzzle.


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