MTHFR & Methylation



What is MTHFR?

The MTHFR gene provides the code for an enzyme in the body 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.



What is 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. These tasks include:

  •  Detoxifying hormones – issues can lead to hormonal imbalances (heavy periods, painful periods, endometriosis, PCOS).
  • Liver detoxification.
  • Turns on and off the stress response – very important for mental health.
  • Balances neurotransmitters – very important for mental health.
  • Builds and repairs DNA – very important for pregnancy.
  • Produces important  nutrients for energy including CoQ10, creatine and carnitine. 
  • Produces phosphatidylcholine, which surrounds cell membranes, the mitochondria (where energy in the body 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.

Signs & Symptoms of MTHFR & Methylation issues

  • Cardiovascular disease
  • Cerebrovascular disease
  • Elevated cholesterol
  • High homocysteine
  • Depression
  • Bi-polar
  • Schizophrenia
  • Anxiety
  • Recurrent miscarriage
  • Blood clots
  • Pre-eclampsia
  • Infertility
  • PCOS
  • Migraines
  • Chronic fatigue syndrome
  • Fibromyalgia
  • Irritable bowel syndrome
  • Chemical sensitivity
  • Neuropathies
  • Autoimmune conditions
  • Multiple Sclerosis
  • Alzheimer’s
  • Parkinson’s
  • Epilepsy
  • Autism
  • Neural tube defects
  • Cleft lip and palate
  • Down Syndrome



What affects the methylation cycle?

There are many environmental factors that disrupt the methylation cycle, including:

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 to the proper functioning of the methylation pathways.

Folic acid – folic acid is a synthetic form of folate that blocks the uptake of natural folate from food.

Environmental toxins – 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 an inadequate amount of homocysteine that is needed for methylation.

Inadequate Vitamin B12 intake – 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.

Low B6 and Zinc – deficiency in B6 and zinc is seen in people with pyroluria and / or an overload of oxalate in the body. Oxalate is very high in nuts and seeds, so those on a paleo diet may be eating too many oxalates.

Poor gut health – this will lead to malabsorption of the essential nutrients required for methylation.


Treatment for the MTHR gene mutation and methylation cycle issues is very individualised. Taking a thorough case history and assessing symptoms alongside diet, lifestyle, environmental exposure and pathology testing is essential.  Each patient is provided with an individualised treatment plan incluidng diet and lifestyle advice, supplements and herbal medicine if necessary.






Appointments can be made online, or by emailing Joanne at  or by phone on 0400 658 003.

Online bookings  


Sydney Naturopath, Joanne Kennedy is available to assist with MTHFR and Methyation issues.  For appointments please call 0400 658 003 or email Joanne at