Over the past 3 years, I have treated hundreds of women with the MTHFR gene mutation and hormonal imbalance. These are a few of my observations.

Firstly, so many women with MTHFR and methylation issues have hormonal imbalances. Time and time again, I’m treating women with MTHFR for fatigue, migraines, miscarriage, anxiety or depression, and when we get to the questions on menstruation, I so often hear…”oh my periods are sooooo painful – 10/10 pain, my PMS is terrible – I get so tired and moody, I get so bloated, my breasts are soooo sore, I can’t sleep and the flow is very heavy.


So what is going on? What are the possible links?

Firstly, you need the MTHFR gene and methylation pathways to be working optimally to support oestrogen detoxification via the liver. Methylation is an important pathway in phase II liver detoxification of oestrogen. When oestrogen does not get detoxified properly, it builds in the body causing all the symptoms mentioned above.


So what can go wrong?

Phase II methylation of oestrogen is governed by the COMT enzyme (catecholamine methyltransferase) which requires a methyl group. This methyl group is supplied by SAMe, which is the body’s methyl donor.


So what do you need to make SAMe?

You need good amounts of methylfolate, methylB12, methionine, zinc, and blood homocysteine to be at approximately 7.

So what is going to affect your level of these nutrients?

  • The MTHFR gene mutation may cause you to have reduced levels of methylfolate.
  • Vegans and vegetarians are at high risk of having low B12 levels. Also people with poor gut function and low hydrochloric acid are also at risk of having low B12, as your ability to breakdown protein, and absorb the B12 is compromised.
  • Methionine is an amino acid which we get from protein, so those with inadequate protein intake will be low in methionine.
  • Zinc deficiency – those with inadequate zinc intake in their diet or those who eat a lot of high oxalate foods, which bind to zinc, may have a deficiency in zinc.
  • Those with high homocysteine which can often be caused by the MTHFR gene mutation, particularly those homozygous C677T, or having insufficient B12, zinc or B6. What happens here is that homocysteine gets trapped, as it needs these nutrients to recycle it to make SAMe.
  • The other scenario is that you can have low homocysteine, resulting in not enough to be recycled to make SAMe. Homocysteine can be low due to a number of reasons. What I often see in clinic is that people are put on a homocysteine lowering supplement, they take it for too long and it drops their homocysteine too low. I also see patients put on very high doses of B6 in pyrrole compounds, which will lower homocysteine below 7. Another cause of low homocysteine is oxidative stress, as cysteine steels the cysteine group from homocysteine to make glutathione. Those with a yeast, viral, bacterial or parasitic infections will often have low homocysteine due to an increased need for glutathione.

Correcting methylation and supporting oestrogen detoxification pathways can give immense relief to women suffering form hormonal imbalances.


Author: Joanne Kennedy

Joanne Kennedy is a degree qualified Naturopath practising in the Sydney CBD. Areas of speciality include: MTHFR, Women’s hormones; stress, fatigue and insomnia; anxiety & depression; gut/digestive health; and histamine intolerance. Jo has helped hundreds of patients with chronic and complicated health issues gain control of their health and finally heal.

Jo is currently seeing patients in the Sydney CBD at Sydney Health & Wellness Centre and via Skype. For appointments call Jo on 0400 658 003 or email