What is MTHFR?

This acronym stands for Methylene-TetraHydroFolate Reductase. It is an enzyme that converts the folate you eat into the active form that your body needs to use. The 2 main genes involved in this process are MTHFR C677T and A1298C

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What would make me think I might have a mutation in one of these genes or a problem with my methylation cycle?

  • You might be suffering from any of the conditions on the conditions page.
  • You might have long standing fatigue, and just don’t feel good even though you have had many tests and many doctors/specialists/practitioners have said that there is nothing wrong with you
  • You may have female members of your family that have had a miscarriage or multiple miscarriages, or who have given birth to a child with Neural Tube Defects, cleft lip/palate or Down syndrome
  • You may have family members with issues with their cardiovascular system like high blood pressure, high cholesterol, stroke, heart attack, deep vein thrombosis
  • You may have a family history of depression, anxiety, bipolar
  • You or your family members may have been diagnosed with ADD or ADHD
  • You may have had learning difficulties at school / you may find it hard to concentrate
  • You may have issues with inflammation
  • You may have elevated liver enzymes in blood testing
  • You may have elevated red cell folate in blood testing
  • You may have chronic constipation
  • You may have low B12 levels
  • You may suffer dizziness
  • You may have elevated homocysteine levels
  • You may be on drugs that deplete your B12 and/or folate levels like antacids, cholestyramine, methotrexate, nitrous oxide, high dose niacin, theophylline, Cyclosporin A, metformin, phenytoin, oral contraceptives, antimalarials, antibiotic Trimethoprim, ethanol, Bactrim, sulfasalazine, triamterene.

What is methylation?

Methylation is the process by which your body transfers one set of atoms into a series of amino acids, proteins, enzymes and DNA in each and every cell and tissue in your body. The process of methylation is involved with activities such as:

  • Detoxification
  • Repairing and building DNA and RNA
  • Processing hormones
  • Building immune cells
  • Producing energy
  • Repairing cell membranes
  • Turning the stress response on and off
  • Supporting neurotransmitters – the brain’s communication chemicals
  • Supporting fat metabolism

Methyl groups in your body are the ‘on-off’ switches of the cells activities. As your cells are then responsible for all tissues and organs in the body, it is vital they are healthy and working as optimally as possible.

Anything upwards of 45-50% of the general population have some kind of mutation on one of the MTHFR genes.

How can I find out if I have a positive MTHFR mutation?

There are 3 main ways to test and discover your MTHFR gene status:

  1. Order and complete the MTHFR Gene Test via our website. This is a simple blood spot test that can be completed at home and is available to both national and international patients. Click here to read more on the testing process and order your kit.
  2. Via your doctor/ health practitioner & a pathology lab. In this method, you receive a referral for the MTHFR gene test from your doctor or health practitioner (ie. naturopath), and take this form to your closest pathology collection center. The pathologist will take a blood sample for testing, and your results will be sent to your practitioner to share with you. Remember, it is imperative the pathology lab tests for both variants of the MTHFR gene: A1298C and C677T, as receiving results for one mutation will only possibly present 50% of the picture. Note: If you are completing this test through your doctor and you have a family member who is positive for this mutation and/or you have a history of Deep Vein Thrombosis (DVT) or pulmonary embolism, then you may be able to claim the test through Medicare. Please discuss this with your doctor. All tests completed through naturopaths/ nutritionists etc will not be covered by Medicare.
  3. 23andMe Genetic Testing – This is a USA-based lab that uses a saliva sample to screen for 100 00’s of genes, MTHFR variants included. This presents a more in-depth option for testing, and will supply you with a great deal of information about your methylation-related genes and overall genetic health. For this reason, this form of testing can be well suited to anyone who has suffered with a chronic health condition, has not seen improvements with classic medical or natural treatment or has issues with falling pregnant/ infertility.  To read more about this testing process and how to obtain your results, please visit out Resources page.

If I get a positive result what does it mean?

A positive result means something different for each individual. It is very important to remember that just because you have a mutation does not mean you will necessarily have health issues – known in ‘gene speak’ as expressing. There are many factors that influence genes ranging from stress, to your diet and the environment around you.

If you have chronic disease or you don’t feel well, then it’s likely that various factors have caused an expression of your gene – it is then important for you to seek assistance in understanding your MTHFR mutation and address it.

What do homozygous and heterozygous mean?

  • Homozygous: means you have a copy of the gene mutation from both parents
  • Heterozygous: means you have one copy of the gene from one parent plus a normal one from the other parent
  • Compound heterozygous: means you have one copy of the gene from one parent and one from the other parent

What does a positive result actually mean – what are my genes doing or not doing?

The C677T and A1298C mutations cause a down-regulation of the enzyme mentioned above. In the case of the 2 genes this then approximately equates to the following:

  • MTHFR C677T heterozygous = 30-40% loss of function
  • MTHFR C677T homozygous = 60-70% loss of function
  • MTHFR A1298C heterozygous = some % loss of function – Research is NOT clear
  • MTHFR A1298C homozygous = 40% loss of function
  • Compound heterozygous = 40-50% loss of function

If I have a MTHFR mutation, that means I need to take methylfolate right?


In addition to the MTHFR gene, there are a multitude of genes involved in the methylation pathway. Yes, MTHFR is a vitally important gene to start with, but many people can’t cope with methylfolate initially as the body may have issues in other areas and pathways, ie. inflammation, gut health, detoxification or hormonal balance. Introducing methylfolate to the body whilst these issues are still occurring can lead to side effects and/or making your symptoms worse.

It is therefore important to see a professional that knows and understands how to address methylation issues. Some people have no problem with methylfolate, but others have terrible side effects.

If you do begin methylfolate supplementation, below is a list of its related side effects to monitor for:

  • irritability
  • insomnia
  • sore muscles
  • achy joints
  • acne
  • rash
  • severe anxiety
  • palpitations
  • nausea
  • headaches
  • migraines
  • depression
  • suicidal thoughts

MTHFR and Pregnancy

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Any period of rapid growth increases the need for healthy DNA production. Increased demand for the production of healthy DNA is huge during pregnancy due to the intense growth of the foetus.

This DNA production is largely governed by adequate folate levels and therefore, the MTHFR gene.

Impaired methylation is linked with many disease states (e.g. Neural Tube Defects, cardiovascular disease and cancers)

It is thought these diseases result from:

  1. Impaired DNA synthesis and repair
  2. Changes in methylation that negatively change gene expression
  3. If there is a mutated MTHFR gene, the availability of active methyl folate is decreased, then DNA production and gene expression cannot happen as abundantly as required for the growing baby
  4. This is when developmental disorders occur in offspring, such as neural tube defects, congenital heart disease, Down’s Syndrome and cleft lip/palate

Pre-conception and pregnancy have many layers of complexity and consideration, so the information we are able to provide here is limited. For more information on how MTHFR can affect pregnancy, please read the list of blog posts listed below, and consider booking an appointment with one of our experienced team at the clinic to support you T: 1300 692260.

MTHFR & Pregnancy/ Preconception articles:

Can I find out more information about MTHFR and what it may mean for me?

Yes, to learn more, please view our webinar recording that is an introduction to MTHFR, found on our ‘What is MTHFR‘ page. MTHFR Support Australia provides a free webinar online and free information nights every month so you will have access to further information.

For local Sydney residents, we also offer information evenings each month, which are a fantastic opportunity to learn more about MTHFR, how it is affecting the body, and have all of your questions answered by our experienced team. Read more and reserve your spot here.

Please also visit our Resources page for some other links to sites with great information on MTHFR.

Finally, we also share information on MTHFR, methylation, nutrition and general health on our MTHFR Facebook page daily, found here: https://www.facebook.com/mthfrsupportaustralia

If I want to speak to my doctor about this can you write a letter to them once I’ve had my appointment?

Yes absolutely. The MTHFR team works with many specialists, doctors and other health practitioners around Australia. We have a collaborative approach to health care and believe that your GP and other healthcare practitioners should be across MTHFR and methylation issues.

MTHFR Support Australia has developed a practitioner log in section on this website, enabling your health professional access to detailed information, research, patient handouts and a space to request further information and appointments for patients. We all need to be looking after your health together

How can I contact MTHFR Support Australia if I have an enquiry?

You can contact us at:

We will endeavour to reply to all enquiries within a 24-48hr period.

How can I keep up to date with what’s happening?

Stay up to date by:

Do you provide consulting and advice on how to address MTHFR gene mutations/can I make an appointment to see a practitioner about MTHFR?

Yes. We offer appointments with our expert team at MTHFR Support Australia. We are located at: Suite 9, Level 1, 20 Young Street, Neutral Bay, NSW, 2089.

If you are regional or interstate, please request a Skype appointment by emailing info@mthfrsupport.com.au or calling 1300 692 260.

Am I able to claim my consultation fee on Medicare or my private health insurance?

Naturopathic consultations can be claimed via private health insurance if you have extras cover.

Unfortunately, naturopathy is not covered by Medicare. However, if you reach the threshold for medical expenses, you may be able to claim a small percentage of costs incurred over the threshold.

How long does treatment take? When will I see results?

Our treatment is highly individualised and it is therefore extremely difficult to say. A good way to look at it is, for every year you have a condition allow a month to address it. So if you have been sick for 10 years, it will take 10 months for you to see results.

Can you buy methylfolate and other methyl products in Australia?

As of early 2016, methylfolate and methylcobalamin have now been cleared for use by the TGA.

Therefore, it is now possible to access these activated vitamins from Australian-based companies. These can be dispensed to you under the guidance of your health care practitioner.

I’ve read in many places that eating a gluten free and dairy free diet is beneficial for someone with a MTHFR mutation, why is this?

Most cereal grains contain toxic proteins called prolamines. These are tough proteins that humans can’t digest – we are just not equipped to break down them down into small enough entities to be absorbed. Therefore, these proteins irritate the gut lining and sneak their way past the intestinal wall causing inflammatory and autoimmune reactions. Prolamines include:

  • Gliadin in wheat
  • Zein in corn
  • Avenin in oats

Plant lectins are the other nasty in grains. These toxic, sugar-binding proteins don’t get digested either, and they bind to the cells on the gut wall (enterocytes) and prevent them from completing their normal healing processes (causing them to die).

To understand how going gluten free positively impacts your genetic health, please watch our free webinar recording on Going Gluten Free by clicking here.

The other inflammatory and potentially allergenic food is dairy – especially cow’s milk.

The link to MTHFR – with an MTHFR genetic mutation your body has issues converting and handling certain nutrients – and the harder they are to handle, the more stress it puts on your body. So if you have a positive MTHFR mutation, you have a higher chance of your immune function and detoxification pathways not functioning at 100%.

As such, eliminating gluten and dairy – which as we’ve mentioned, put your body under stress to digest – will help reduce inflammation and the burden on your detox pathways and systems of elimination

What other diet and/or lifestyle things do I need to consider?

  • Low processed food – reduce inflammation and burden on detox pathways and systems of elimination
  • Low alcohol
  • No smoking
  • Maintain a healthy weight
  • High in vegetables – alkalising, natural folate and anti-inflammatory action
  • Modulate stress – uses up methyl groups and cortisol shuts off reproductive function
  • Remove all environmental and household toxins
  • Eat organic where possible

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