What is the MTHFR Gene Mutation and how it can affect your fertility

what is the mthfr gene mutation
I wrote a little while ago about discovering that I have one version of the MTHFR gene mutation.  At the time I was fairly pissed off with how little importance my GP seemed to place on this discovery.  Since then I’ve done a fair bit of my own research into what it is and how it can affect your fertility, and most importantly – what the hell you can do about it if you find out that you have it. 
It all feels a little overwhelming when you first start researching – especially if you struggle to get your head around the language many people use to talk about it. So I’ll do my best to translate in regular English without too much mumbo jumbo.
Here’s what I found:

What is the MTHFR Gene Mutation?

MTHFR is an enzyme that is used in the body’s process of breaking down and properly using folate or vitamin B9. The body uses folate for muscle growth, to help convert food into energy, for healthy skin, liver and eyes and also for the nervous system to function properly. (ahhh hellloooo anxiety).
Basically, those who have the MTHFR gene mutation have a reduced ability to be able to absorb and use folic acid (the synthetic form of folate) and even folate in the body. It’s estimated that about 50% of the population have this gene mutation (which may explain why many doctors don’t seem to be taking it too seriously).

Types of MTHFR Gene Mutation

The discovery of this gene mutation is still fairly new and science is still working out the different types. Currently it’s understood that the two most concerning mutations are C677T and A1298C. (Don’t stress too much about trying to understand these numbers they just describe where the mutation is in the gene).
There are also various combinations of the mutations that you can have depending on whether the same gene mutation has been passed down from both parents. Again, unless you’re going to go on and do a PHD in this stuff I don’t really think it’s that important to get bogged down in the details.  If you have any of the gene mutations I think it’s best to skip right to ‘what do I do about it’.

How does the MTHFR affect your body?

In many ways scientists are still very much learning how the MTHFR gene mutation affects the body.
However we do know that folate is required for every cell that is created in the body, so it’s not hard to come to the logical conclusion that the inability to process folate results in real problems.  Not being able to process folate is thought to make you more likely to experience fatigue, anxiety, fogginess, sleep issues, depression, blood clots, strokes, fetal development and not being able to process toxins (like alcohol and chemicals) out of the body as well as you should be able to.
Interestingly stress is also linked to an inability to process these nutrients properly.
So basically …
MTHFR gene mutation + stress + alcohol or environmental chemicals from body products = an increasingly toxic environment without the nutrients need to create a baby.  

How to find out if you have the MTHFR gene mutation

If you’re in Australia you can go to your GP and ask them to test for the MTHFR gene mutation.  Get them to include both the A1298C and C677T mutations.
Depending on your doctor it may or may not be covered by medicare.  In many cases these tests aren’t routinely ordered by doctors until you’ve had at least 3 recurrent miscarriages and therefore you may not even be told about them until you hit this mark.  Some doctors area also a little hesitant to test as almost 50% of the population is believed to have at least one mutation so they don’t put much weight on the result.

How do I make sure the MTHFR gene mutation doesn’t affect my fertility

No one is questioning how important folate is during pregnancy so as far as I’m concerned if you find out you have it, (and especially if you’ve had trouble falling pregnant or have experienced losses) it’s an important thing to address (especially because it’s SO EASY to do something about.
Take a folate supplement NOT folic acid
Folic acid is the synthetic form of folate and if you have the gene mutation your body can’t process it at all. Instead choose a methylated version that your body can use.  I like the Thorne Prenatal

Eat lots of dark leafy greens
Getting your nutrients from food is always going to be better than getting them from artificial supplements.  Let’s face it, nature just does it better.  Dark leafy greens contain the folate you need and are also so good for you for a whole bunch of other reasons.  Enough said really.

Reduce toxins and help it detox
Basically you want to avoid making the body work any harder than it already needs to and help it to detox the toxins you’ve already ingested.  Switch to natural beauty products. Avoid chemicals in the home (you can clean anything with just hot water, vinegar, lemon juice and tea tree oil – and it’s cheaper!). Reduce or stop drinking alcohol completely. Get your body moving to sweat out toxins. Drink enough water to flush toxins. Dry body brush to help with circulation. Visit a sauna.  Start where you can with these changes and with only do what feels manageable – it’s pointless getting stressed out doing all of these things. Stress is probably worse for your body than all of these combined.

Avoid processed food
Many processed foods have the synthetic form of folate added. If you’re eating them your body is not going to absorb the folate you do get as well as it should.
Overall if you’ve just found out you have this my advice would be to not to stress about it, but let the MTHFR gene mutation be yet another reason to take looking after yourself and making sure you get the right nutrients seriously. I think it can be easy to dismiss nutrition when you’re having fertility issues and instead focus more closely on the reproductive organs, but we literally are what we eat.  Focus on looking after yourself well and eating well for your own health and the MTHFR gene mutation shouldn’t affect your fertility much, if at all.

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