From infertility to depression to cancer. Why you need to get to know MTHFR.

Methylenetetrahydrofolate Reductase, or MTHFR. (I know, it sounds confusing and naughty all at once.)

MTHFR is the name of both a gene and enzyme (just to confuse you) that primarily impacts the folate cycle. The gene’s role is to produce an enzyme that converts folate into the body’s bioactive form, methylfolate.

Methyl-what? Read this first to get the basics on folate, folic acid, folinic acid and methylfolate.

If you happen to have this genetic hiccup, it results in a defective MTHFR enzyme which leads to a substantial reduction of the enzyme’s function.

Why is this a problem?

The folate cycle is smack in the middle of a multitude of interlinking processes or cycles in the body. MTHFR TetraFolateMethyl Cycle

On one side, it affects production of serotonin, dopamine and a host of other neurotransmitters, and therefore, impacts mood and mental health. On the other, it’s involved in the recycling of homocysteine (too much increases risk of cardiovascular disease) to methionine (antioxidant), SAMe (major methyl donor involved in almost every process in the body and responsible for DNA and RNA and phospholipids, essential in the creation of every single one of your body’s cell membranes) and glutathione (the body’s major antioxidant).

All of the above has been simplified–majorly simplified. The impact that a faulty MTHFR gene can have on the entire body is so far reaching, it’s considered to be linked to a host of chronic diseases, including: cardiovascular disease, clotting disorders and thromboembolism, congenital defects, recurrent miscarriage, neural tube defects, infertility, chronic fatigue, multiple sclerosis, migraine, anxiety, ADD, autism, cancer, diabetes, depression, schziophraenia, bipolar and addictions.

Now for the real kicker. It’s been estimated that approx 50% of the population have a genetic default in the MTHFR gene (and if you’re of Asian, Mexican or African America descent, your risk is even higher). That’s a whole lot of us out there who are experiencing sub-optimal health and potential increased risk for chronic disease.

With autism on the rise, cancer now jostling heart disease as the number one killer in Australia and depression affecting 1 in 5 Australians, are you getting the sense that MTHFR may be kind of a big deal around here?

Side note

And so my thoughts wander into that complex and unmentionable topic of vaccination (I’m just whispering it). Please note, the following is not based on any scientific evidence or evaluation and is purely my own conjecture and personal musings, but could this then not be part of the reason some have such violent reactions following vaccination? Perhaps it is not the vaccine that is the demon here, but the individual’s genetic mutations that result in either tolerable or devastating effects post-jab. Perhaps if we could test for MTHFR first, we could more safely target those who can cope and those who truly need to avoid.

So back to basics: Terminology you’ll need to know

MTHFR = Methylenetetrahydrofolate reductase = a gene and its enzyme within the folate cycle. If the gene is faulty, the enzyme that it makes is also faulty. Enzymes are catalysts to speed up certain biochemical reactions in the body and if the enzyme is faulty, it results in a reduction in the enzyme’s ability to function (see table below).

Nucleotide = the building blocks that make up your DNA.

SNP = Single Nucleotide Polymorphism (or genetic variation) which occurs in the DNA affecting one of these nucleotides.

677 and 1298 = the position on the MTHFR gene where the SNP has ‘messed up’ (i.e. at position 677 and/or 1298).

Heterozygous = 1 copy of the gene from either parent.

Homozygous = 1 copy of the gene from each parent.

What’s the damage?

If you’re found to carry a MTHFR polymorphism, there are a few things to note:

1. The SNP determines the effect of the MTHFR enzyme’s function:

MTHFR Hetero Homo table

2. In general, homozygous C677T or compound heterozygous C677T/A1298C has an increased risk for neural tube defect, lower plasma folate concentration and impacts more upon things heart-related, e.g higher plasma homocysteine.

What if I’m part of the lucky ones with a perfectly functioning MTHFR gene?

Hurrah. However, you may still not be off the hook entirely. The folate cycle also requires co-factors such as Vit C, B2, B6, B12 etc. If your diet is poor, gut health sub-optimal or stomach pH too alkaline, you’ll also have problems converting folate/folic acid into the active forms, folinic acid and methylfolate, so it’s integral for everyone, mutant or not (oh that sounds a bit harsh doesn’t it?) to take care of their digestive and liver health to ensure optimal folate metabolism.

Why get tested?

Because, quite frankly, knowledge is power:

  1. If you have an illness or chronic, recurrent condition that is not responding to conventional or complementary treatments, this may just be the missing link.
  2. If you have a strong family history of chronic disease such as cancer, heart disease, depression, recurrent miscarriage or hyperhomocysteinaemia (high homocysteine) and you want to take preventative steps and be proactive about your health.
  3. If your idea of living includes too much stress, too much work or too much play and you need a wake up call that even though your mates can get away with it, your genetics may indicate it’s time to start loving your body a little more.

How do you test for MTHFR?

  1. Ask your GP or Naturopath for a blood test for MTHFR. It’s not covered by Medicare and will cost around $55.

Important point to remember

If you do have a MTHFR polymorphism, it does NOT mean you’re guaranteed to develop a specific disease. Your genes are simply blueprints and only highlight the potential for problems.

But again, knowledge is power.

If you know you have a weak lower back, your favourite pastime is unlikely to be bungee jumping. You’re aware of your weak spot and you take measures to adjust your behaviour so that you can still live an active, happy and healthy life, just without the experience of jumping off a platform with a string tied to your ankle (no complaints here!)

Same same.

Having a problematic MTHFR gene does not cement your health-fate, but it does provide you with some really useful information about how best to navigate potential weaknesses to ensure you live the healthiest life you can.

How do you treat MTHFR?

First steps: diet and lifestyle:

  1. Eat lots of uncooked leafy greens to intake your dietary intake of folate.
  2. Stop taking supplemental (synthetic) folic acid. Read more about why here.
  3. Focus on reducing exposure to plastics, carbon monoxide, smoking, alcohol, trans fats or anything that increases your body’s toxic load and get active.

Secondly, there is no one-pill-fits-all solution. Everyone’s treatment plan is as individual as their specific presenting symptoms and as such, needs to be managed by a healthcare practitioner specialising in MTHFR.

And the most thrilling part? With expanding research and awareness of MTHFR, there is exciting new hope for those with chronic conditions in both treatment options and overall health outcomes.

Kate is a qualified naturopath who is passionate about helping women heal from hormonal havoc and inspiring women to know their own power, worth and wisdom.

Kate offers one-on-one Skype consults for irregular cycles, PMS and period pain, endometriosis, PCOS, peri-menopause, mood swings, fatigue and mental and emotional stress.

Simply drop me an email to see how I can help you!


22 thoughts on “From infertility to depression to cancer. Why you need to get to know MTHFR.”

  1. Kate, thank you for putting together such an incredibly clear and concise summary of the whole MTHFR picture! What a fantastic resource for practitioners and clients alike 🙂 You’re amazing! x

  2. This was just brilliant in putting all of this information in one place in terms that are as simple as the subject can possibly be made. With your permission I am going to use it as a patient handout in my office.

    1. Thanks Michael, agree it’s tricky to condense it while simplifying and making it relevant for people, so by all means, with credit, share away. And please share the link where you can too! The more the info gets out there, the better for all of us. Thanks for your feedback, Kate

  3. Kate, I just love your passion and intellectual pursuit for knowledge, particularly when it is for the benefit of us all! Am so glad to have you as my naturopath! I am looking forward to having you look into all this for me!!

  4. Hi Kate,

    Thanks that is really helpful. I was going to be tested this week but period came early so trying again next month.

    I know you said you were just speculating, but please please be careful with the vaccination stuff until there is more evidence. Wakefield’s dodgy research on the MMR and autism (which has since been retracted by everyone who worked on it except Wakefield who is paid by enzyme companies) started a media avalanche that caused a measles epidemic in the UK. The World Health Organisation has stated there is no link between autism and the MMR but every now and again someone says something on a chat show and then the immunisation rates are affected again. There are those children who can’t be vaccinated because their immune system is dealing with cancer or something else so we need to keep vaccination rates high. It is dangerous when people start not vaccinating their kids as a precaution.

    1. Thanks for the comment Lydia. If you read my comment re: vaccination, you’ll understand that’s the point I’m making. That vaccinations in themselves may not be the demons here. I’m not anti-vaccination, but I am anti-forcing a mass scheme which doesn’t account for the individual’s own ability to cope with it. And I didn’t mention autism as the risk here. There are a multitude of reactions some children get after vaccination, nothing to do with autism. This is my point. If we could test for their SNPs first, we may actually be able to design a better vaccination protocol (less fear, more hard knowledge). Everyone has their opinion. Thanks for sharing yours.

  5. Well summarised Kate. As always your message is clear, succinct and with practical application. Love your work!

  6. Hi Kate,
    A great read thank you!
    I have just found out I am Homozygous to MTHFR c.1665C>T. Is this different to 677 and 1298?

    1. Hi Carissa, C665T (or 665C>T) is the same variant as C677T but I’m not familiar with c.1665C>T sorry – may just be another way or writing if it’s listed as an MTHFR gene though.

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