Methylation is the process of activating a molecule through the addition of a methyl group (CH3). Genetic MTHFR mutations are one cause of potential reduced methylation function. Methylation is important in numerous biochemical and metabolic reactions, acting as an “on/off switch”. Relevant functions include energy production, regulation of gene expression, brain function, mood, hormones and detoxification.
Methylation
Methylation is the process of activating a molecule through the addition of a methyl group (CH3). Genetic MTHFR mutations are one cause of potential reduced methylation function. Methylation is important in numerous biochemical and metabolic reactions, acting as an “on/off switch”. Relevant functions include:
1 Energy production
2 Regulation of gene expression
3 Brain function
4 Healthy cell membranes (phospholipids)
5 Neurotransmitters such as serotonin, melatonin, dopamine and norepinephrine
6 Hormone (particularly oestrogen) metabolism
7 Liver function (glutathione metabolism)
Methylation and MTHFR
A mutation in the MTHFR gene could result in defective or insufficient MTHFR enzyme, which may affect methylation. This in turn can result in a decrease in methylation, leading to a lack of active folate and folate conversion.
The Methylation cycle
The methylation cycle has many complex steps and I am happy to explain diagrams in your consultation.
In the folate cycle, tetrahydrofolate (THF) gets converted to 5-methyl tetrahydrofolate (5-MTHF), the most abundant form of folate in human body.
The folate cycle connects to its partner, the methionine cycle, through the next step, where 5-MTHF donates its methyl group via the vitamin B12 dependant enzyme, methionine synthase, to remethylate homocysteine back to methionine
What if I have a mutation in the MTHFR gene?
While it is important to know if you have a gene mutation, it doesn’t mean that you will have any issues. However, in practice, patients seeing me who have severe chronic disease, anxiety or depression are more likely to be experiencing problems due to the expression of gene mutations.
It is also important to avoid focussing all your efforts on “fixing” one biochemical pathway or compensating for a single gene mutation. A holistic treatment plan needs to address all the other areas of your health and lifestyle. These include digestion, hormones, sleep, nutrition, exercise, environmental toxicity, stress management, work and relationships.
How can I check for this gene?
There are two ways:
1 Ask me for a referral for an MTHFR gene test.
2 You can do a more extensive DNA test.
Dr Peter Holsman is a qualified medical general practitioner and naturopath who specialises in functional and integrative medicine.