MTHFR Fertility



What is MTHFR?

The acronym MTHFR stands for Methylenetetrahydrofolate Reductase. It is an enzyme that converts the folate you eat into the active form of folate (5-Methyltetrahydrofolate, (5-MTHF)). The folate you eat (DHF – dihydrofolate) has to be converted via many steps to the active form of folate 5-MTHF. The enzyme Methylenetetrahydrofolate Reductase affects this at the last step. So if you have a mutation in the MTHFR gene then it is going to be affecting how much active folate you have available. The two most researched MTHFR gene variations involved in this process are MTHFR C677T and A1298C.

What would make me think I might have an MTHFR gene mutation 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 oestrogen dominant conditions like: fibrocystic breasts, fibrocystic ovaries, heavy periods, fibroids, endometriosis, terrible PMS
  • 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 may have allergies, asthma, hives, migraines
  • 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 or diarrhoea
  • 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.

Upwards of 45-50% of the general population have some kind of mutation of the MTHFR gene.

How can I find out if I have a positive MTHFR gene 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.
    For more information and to order your kit: US/International residents   Australian residents
  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 for Australian Residents: If you are completing this test through your doctor and you have a first degree biological 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. AncestryDNA Genetic Testing – This is a USA-based genetic testing company that extracts your DNA from a small saliva sample. Their lab looks at more than 700,000 different “markers” in your DNA including MTHFR gene variations C677T and A1298C. 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. AncestryDNA Test kits can be ordered here.

If I get a positive result for the MTHFR gene mutation C677T and/or A1298C 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 are expressing it and will have health issues. There are many factors that influence whether you express a gene mutation 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 MTHFR gene mutation – 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 mutation from one parent plus a normal one from the other parent
  • Compound heterozygous: Means you have one copy of the gene mutation and one normal copy for both C677T and A1298C.
  • 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 gene mutations 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 make 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

    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 fetus.

    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 syndrome and Cleft lip/palate

    Preconception 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 below and consider booking an appointment with one of our team of experienced practitioners using our online booking portal.


    MTHFR and Pregnancy Course

    Can I do sections of the course?


    Can I pay for the course in installments?


    Can I ask for an appointment if I am doing the course?

    Yes! Just send us an email at and we can set you up.

    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 Fertility provides a free webinar online and free information nights every month so you will have access to further information.

    Please also consider joining our Fertility Newsletter here where you’ll get access to FREE exclusive membership content, current MTHFR research, health tips, recipes, special offers and news about upcoming events including Carolyn’s live Q&A sessions.

    How can I contact MTHFR Support and Fertility if I have an enquiry?

    You can contact us at

    We will endeavor to reply to all inquiries within a 24 – 48hr period.


    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
  • MTHFR Updates

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

    • Sign up for our monthly newsletter for the latest research, recipes for keeping your folate level high, tips, ideas and strategies to keep well. You do so from the newsletter sign up box below
    • Read our basic run down on the blog
    • If you are a qualified health professional, register to gain practitioner access to our website.
    • View our webinars