“MTHFR is a key gene in methylation”


The MTHFR gene provides the code for the MTHFR enzyme to metabolise folate. It takes folate from food and converts it into its active form, 5-methyltetrahydrofolate (5-MTHF). This methyl form of folate is used in the body in a process called methylation.


Methylation is a biochemical process, whereby a methyl group, consisting of 1 carbon and 3 hydrogen atoms is transferred onto a substrate including DNA, RNA, neurotransmitters, hormones, immune cells and nerve cells. Once these compounds are methylated, they are able to commence their required functioning.




  • Detoxification of hormones – issues can lead to hormonal imbalances (heavy periods, painful periods, PMS Mood swings, PCOS).
  • Detoxification of harmful toxins, chemicals and heavy metals.
  • Turns on and off the stress response – very important for mental health.
  • Balances the immune system – underactive immune function reduces your ability to fight disease.  An overactive immune function can lead to autoimmune conditions.
  • Balances neurotransmitters (serotonin, dopamine and adrenalin) – very important for mental health.
  • Builds and repairs DNA – very important for pregnancy.
  • Produces important nutrients for energy including creatine and carnitine.
  • Produces phosphatidylcholine which is a key component of cell membranes, the mitochondria (where energy is made) and the myelin sheath (protective coating around nerves).
  • Reduces histamine. This is very important as when histamine builds up it causes many issues including anxiety, insomnia, dizziness, migraines, eczema, hives, coughing, wheezing, tight chest and even period pain.
  • Hormonal imbalance
  • Oestrogen dominance
  • Heavy periods
  • Breast tenderness
  • PMS mood swings
  • PMDD
  • Irregular periods
  • PCOS
  • Infertility
  • Recurrent miscarriage
  • Pre-eclampsia
  • High homocysteine
  • Low homocysteine
  • Multiple chemical sensitivities
  • Anxiety
  • Depression
  • Heightened stress response
  • Insomnia
  • Fatigue
  • Endometriosis
  • Headaches
  • Migraines
  • Dizziness/vertigo
  • Motion sickness
  • Seasonal allergies
  • Immune dysfunction
  • Gut/Digestion issues
How my practice can support your methylation

1. Identify the cause of your methylation issues

Having worked with hundreds of patients with MTHFR and methylation issues, Joanne has identified the major causes of methylation issues which are:

  • Poor gut health – this causes malabsorption of the essential nutrients required for methylation including protein, folate, vitamin B12, Vitamin B6, zinc and choline.
  • Stress – stress depletes the body of methyl groups so that you don’t have enough for other processes such as detoxification and histamine break down.
  • Heavy alcohol consumption – alcohol depletes B vitamins, which are essential for the proper functioning of the methylation pathways.
  • Consumption of Folic acid – folic acid is a synthetic form of folate that blocks the uptake of natural folate from food.
  • Environmental toxin exposure – these place a heavy burden on the methylation pathways in the liver as well as deplete glutathione (the body’s major antioxidant).
  • Bacterial, viral, fungal, parasitic infections – infections cause inflammation, which will deplete the body of glutathione. In turn, homocysteine is lowered, resulting in inadequate amounts of homocysteine needed for methylation.
  • Inadequate Vitamin B12 intake – Vitamin B12, which is only found in adequate amounts in animal protein, is essential for the proper functioning of the methylation pathways. Vegans and vegetarians are very susceptible to having low vitamin B12.
  • Low Vitamin B6 and Zinc – deficiency in B6 and zinc is seen in people with pyrroluria and / or an overload of oxalate in the body. Oxalates can build up due to gut issues (yeast overgrowth, low levels of good bacteria, poor fat absorption), calcium deficiency, Vitamin B6 deficiency and consuming foods high in oxalates.


2. Refer for the right tests

Doing the right tests is important to identify the cause of poor methylation.  It’s not always necessary to test for the MTHFR gene mutation as it’s only one gene in the methylation pathway.  Understanding what is impacting the MTHFR gene from the internal and external environment (ie, epigenetics) is more important.

We use the following blood tests to help assess each individual patient:

  • Full blood count
  • Biochemistry
  • Lipid studies
  • Iron studies
  • TSH
  • RBC folate
  • Active B12
  • Fasting homocysteine
  • Plasma zinc
  • Serum copper
  • Vitamin D

We also use the following functional medicine tests:

  • SIBO Test
  • Comprehensive Digestive Stool Analysis
  • Complete Microbiome Mapping
  • DUTCH Hormones Test
  • Organic Acids Test

Please note, not every patient needs to get these tests done.  Often signs and symptoms clearly indicate the cause of poor methylation.  You will be advised if you require any testing at your initial consultation.


3. Prescribe the right supplements

With so many supplements on the market, it’s easy to get overwhelmed and confused.  Having treated hundreds of patients with MTHFR & methylation issues, Joanne has identified the supplements that really work to provide positive results for her patients.  Simply taking methylfolate, methylcobalamin, B vitamins or SAMe is not the answer.  Often these supplements can make your symptoms worse.