MTHFR Gene Mutation
Written by Dr Benjamin Lynch
You’ve finally decided it is time to become a loving parent.
Birth control has stopped, prenatal vitamins have begun and reading baby books has become a new hobby.
After a few months, you’re starting to wonder why you’re not conceiving.
A trip to the infertility specialist is made and the results come in: You have a MTHFR genetic defect. What the?!
What Is MTHFR?
No, it’s not a swear word!
The MTHFR gene has a simple, but highly critical, function surrounding how your body utilises folic acid and other forms of folate.
How Common Is The Mutation?
MTHFR is a very common genetic defect that affects approximately 1 in 4 people seriously and nearly 1 in 2 people mildly.
Currently, there are over 5,000 studies on it, so it’s certainly nothing new.
Why Is MTHFR Mutation a problem?
Those with the variant of MTHFR called C667T have a 40% to 60% decreased ability to produce the body’s most active form of folate called methylfolate.
Methylfolate is a critical nutrient affecting neurotransmitter production, DNA regulation, immunity and and the cardiovascular system.
Indirectly, methylfolate affects hormone levels and detoxification.
How can one gene affect so many bodily systems?
This gene resides in each and every cell of your body producing the end product, methylfolate.
Methylfolate is the nutrient which starts a series of countless critical enzymatic reactions.
Let’s discuss one such critical enzymatic reaction to put MTHFR into perspective.
MTHFR is the first step in producing a critical compound called s-adenosylmethionine, commonly known as SAMe.
SAMe is needed to produce CoQ10, carnitine and creatine.
These same nutrients are recommended in those undergoing complementary and alternative medicine infertility treatments.
Let’s point out another one.
Elevated homocysteine is a commonly known risk factor contributing to recurrent pregnancy loss, preeclampsia, infertility, Down Syndrome and other serious concerns surrounding pregnancy.
The MTHFR C677T gene defect significantly contributes to elevated homocysteine.
Homocysteine is a by-product of SAMe. Methylfolate, along with its companion methylcobalamin, help convert harmful homocysteine into beneficial methionine which then helps produce SAMe.
The cycle goes round and round happily as long as a functioning MTHFR gene produces methylfolate.
In the absence of sufficient methylfolate, homocysteine levels may rise to a harmful level.
Given the grave consequences of a poorly functioning MTHFR gene, those wanting to become parents should seriously consider screening for the MTHFR genetic defect.
How Do I Get Tested?
Testing for the MTHFR genetic defect is easy. Simply ask your doctor to order a MTHFR genetic test through your local laboratory.
If you have, or have had:
- Elevated homocysteine
- Recurrent pregnancy loss
- A child with Down Syndrome or autism
- Postpartum depression
- Chronic depression
- A family history of any of the above
… then a MTHFR genetic test is highly recommended.
Identifying yourself as a potential mutant is scary. No one wants to have a genetic defect.
But let me ask you this:
Would you rather have increased risk of recurrent pregnancy loss, preeclampsia, child with Down Syndrome, child with autism, intense postpartum depression; or, would you rather identify a common cause of all these serious conditions and be able to greatly reduce the risk of all them?
Ask your doctor today to order a MTHFR genetic test and blood homocysteine level. The beautiful thing is if you do test positive for the MTHFR C677T variant, there are countless protective and proactive measures you can apply immediately.
If I Have The Mutation, Should I Stop Taking Folic Acid?
Yes — it should be stopped and replaced with folinic acid and methylfolate. You can find folinic acid here.
How Do I Reduce The Risks?
Take protective measures on a daily basis:
- Eat organic and non-GMO foods
- Reduce your intake of synthetic folic acid as the MTHFR enzyme does not convert it well to active methylfolate
- Increase natural food folates found in uncooked leafy greens
- Supplement with active forms of folate such as methylfolate and folinic acid (see a top rated formula for MTHFR here).
- Consider additional nutrients such as carnitine, CoQ10, DHA, krill oil, probiotics, vitamin C, magnesium and phosphatidylcholine
- Eat well-balanced meals with protein
- If vegan, talk with your doctor about supplementing with methylcobalamin, an active form of vitamin B12, along with soy lecithin. One in five women are deficient in choline, which is a critical nutrient for brain development.
Doctor Benjamin Lynch has a degree in Cell and Molecular Biology, BS from the University of Washington, and also has a Doctorate in Naturopathic Medicine. Find out more from Doctor Ben Lynch’s website here.