What is the MTHFR gene mutation and could it be affecting you and your fertility?

MTFHR seems to be the latest buzz word that all the health care professionals and media are talking about at the moment, but what is it all about and how could it be impacting your fertility.


We have 20,000 genes in our body but the MTHFR is a very important one.  Its function is to produce a useable form of Folate.  In order to create that particular form of Folate it has to be processed by 7 other genes first for it to become the most active form of Folate that we need.  MTFHR is the last critical step in that process and so without it, it is having a negative impact on many different functions in our body.


If you have a genetic problem with this gene, your most active form of Folate in your body will be lower than the average person.  So why is that an issue? Well we need that Folate to break down and eliminate bad oestrogens in the body, we need it for detoxification in general, for making neurotransmitters, for our immune system to function properly, for DNA and for building red and white blood cells as well as many other critical functions in the body.


This is a big problem for fertility because we need the liver, immune system and hormones to be balanced and Folate is necessary for all these bodily functions.  This makes me wonder if many women with hormone balance issues also have this gene mutation. All oestrogen dominant problems like Endometriosis, fibroids, polyps, PCOS etc… could also be linked to this gene mutation.


Sadly it’s not as simple as just supplementing with Folate to make it better, that’s just part of of the story.


So how can you tell if you have the MTFHR defect?

Firstly by simply having a genetic test done. I actually got my test done at Nordic Labs but you can also get it done with 23 and me.

  1. Look at your family medical history for the following issues too:
  2. mental health issues such as bi-polar and schitzophrenia
  3. cardiovascular problems such as heart attacks and blood clotting issues
  4. recurrent miscarriages
  5. birth defects
  6.  Autism
  7. Chronic health diseases

It’s actually really common and they say that 40% of the population have this gene mutation in varying degrees.

Your doctor should test for it if you’ve had recurrent miscarriages or have chronically low homocysteine levels.

What can you do to help yourself if you have do have this gene mutation?

  1. Reduce your stress levels! This is vital and will make a huge difference, this is because it takes the pressure off all functions in the body
  2. Reduce all the things that are damaging for the body ie: drinking alcohol, smoking, drinking unfiltered water etc….Unfortunately if you have this gene mutation all these toxins will hit your body harder than they do for other people because of the gene’s role in detoxification
  3. Eat lots of leafy green vegetables that are organic and ideally home grown as they contain high levels of folate. For example Kale, Chard, Watercress, spinach and romaine lettuce.  Other foods that contain a lot of folate include: Beetroot, citrus fruits, Brussel sprouts, broccoli, nuts and seeds, papaya, bananas, avocados, eggs, asparagus and legumes.
  4. Avoid taking Folic acid ie: the synthetic supplement, enriched foods and energy drinks. This is because folic acid is much harder to convert to the usable folate that the body needs, in fact it has to go through 7 enzymes first to become what we need.
  5. Instead, take Methyl Folate as a supplement because your body can more easily use it in this form, click here for one that I recommend. For me I supplement vitamin B12 and take a multi B vitamin complex in a methylated form.  So I recommend that you consult with a nutritionist who can test if you need other B vitamins too.

These days people are under high levels of stress which is negatively affecting their thyroid function and this further weakens the methylation process as the thyroid plays an important role in this.

If you are managing your stress and living a healthy lifestyle you will be helping your body to cope with this gene mutation.  Make sure you are eating your greens, avoiding all the toxins (switch to natural products) and that you’re doing a job you really like doing.  Take time out in your life for relaxation, spend time with people you enjoy and have hobbies/interests you love.