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What the MTHFR is That Gene?!

You’ve probably seen buzz around the MTHFR gene mutations cropping up in the news as of late, and for good reason. These gene variants can cause a range of health issues, from mental health to foetal development – here’s everything you need to know about MTHFR, along with how to reduce the chance of neural tube defects if you’re expecting.

The MTHFR gene, also known as methylenetetrahydrofolate reductase, plays a role in the health of our entire bodies from brain, heart and metal health to the creation of DNA. In fact, this gene provides what is essentially as instruction manual for our bodies to create MTHFR protein, and this is the stuff that helps us folate. This nutrient is essential for our survival, from forming DNA to metabolising protein. But things can get a little pear-shaped depending on your genes – there are a number of mutations that are associated with MTHFR, also known as variants. It’s worth noting that having just one of these variants puts you at considerably less risk for developing health conditions, while two variants are believed to raise that risk factor. Let’s take a look at the two forms of mutations that can occur with this gene:

  1. C677T: This is the most common mutation, affecting up to 40% of the US population, and is known for raising homocysteine levels – this is the stuff that raises our risk for heart attacks and strokes.
  2. A1298C: This variant is a little behind in research as opposed to C677T, but one study found is could be found in up to 14% of Aussies. This mutation can affect our body’s absorption of nutrients, and as such, it’s important to prioritise getting adequate levels of vitamin B12 and B9 – also known as folate.

While many have just one mutation, some may end up with both of these variants as a result of their genetics. This is because we inherit our MTHFR genes from our parents, so if both of our parents have a mutation, we have an elevated risk of obtaining C677T and A1298C.

The consequences of a MTHFR gene mutation

It’s worth noting that your particular variant of mutation will affect your risk for different conditions, along with the fact that research is still ongoing and, as such, causation hasn’t been proven yet. But a number of dangerous conditions have been linked to these gene mutations in numerous studies, with research showing 85% of the population is a carrier for a variant that spikes the risk for developing cardiovascular disease. This comes down to the higher blood homocysteine it causes, which is a known risk factor. Take a look at the numerous conditions connected to MTHFR mutations:

  • Cardiovascular diseases
  • Thromboembolic diseases – these include blood clots!
  • Depression and anxiety
  • Colon cancer
  • Chronic fatigue
  • Chronic migraines
  • Recurring miscarriages
  • Neural tube defects

Preventing Neural Tube Defects

So, you’ve done your DNA test and found out you’ve got the MTHFR gene mutation – what now? Well, it’s not all doom and gloom. If you’re pregnant or hoping to have kids in the future, there are a few ways to reduce the chances of neural tube defects. First, let’s unpack what these defects entail – they usually occur around the third or fourth week of pregnancy when the neural tube fails to close. These are the three most common defects:

  • Anencephaly: This birth defect involves the baby being born with parts of their brain and skull missing, resulting in imminent death – this condition has a mortality rate of 100%.
  • Spina bifida: This congenital birth defect affects the spine, with some of the spinal cord and meninges are exposed. It can result in paralysis, specifically of the lower limbs, and some may experience learning difficulties.
  • Encephalocele: This involves a protrusion from the brain and surrounding membranes which comes through an opening in the skull. Only 21% of those with this defect are born alive, and of those 21%, only half will survive.

To reduce the risk of these neural tube defects, adequate consumption of folate is essential. This is because it plays a major role in the embryo’s DNA production – and at this stage of development, humans need more folate than any other time of their lives. The mother’s levels of folate directly affect the development of the foetus, but as we know, the MTHFR gene mutation can interfere with the ability to produce healthy amounts of active folate. So, if you have a variant, you’ll want to consume at least 400mcg of folic acid every day – this will come close to doubling the count of active folate in your blood, which then significantly reduces the chances of your baby developing neural tube defects. Along with taking folic acid supplementation, it’s also worth getting your fix of foods high in naturally occurring folate for an additional boost.

These include the following:

  • Black beans and kidney beans
  • Dark leafy green veggies
  • Peanuts and peanut butter
  • Whole grains like quinoa
  • Liver and seafood
  • Seeds like flax seeds and sunflower seeds
  • Whole fruits – especially citrus fruits

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