We are more than our MTHFR

oday I wanted to talk about one of the buzz phrases on social media at the moment- gene mutations.

For those who are not up to speed with this, a few years back, science finished 'mapping' the human genetic code (otherwise known as the Genome). What this meant was that we could finally see which parts of our genetic makeup was responsible for the fabrication of various parts of our existence- genes are responsible for our physical expression, our mental health and also our physiological capacities to some extent.

But sadly it isn’t that black and white. Like any of the biological organisms they make up, the way genes 'express' can sometimes be altered by 'mutations'.  People commonly use the terms "mutant" and mutation" to describe something undesirable or broken. But mutation is not always bad.. Mutation also generates new variations that can give an individual a survival advantage. And most often, mutation gives rise to variations that are neither good nor bad, just different.

The most commonly talked about gene mutation at present is known as the MTHFR gene. This mutation is being implicated in mental health, cancer, heart conditions, addiction, diabetes… the list could go on forever.

Whilst there is a LOT of merit in considering this gene mutation when devising a treatment plan, (and I do very often in clinic), I am starting to see that there is FAR TOO MUCH weight placed on this one gene mutation alone. I receive phone calls from people who know they have this mutation, asking if it would be safe to take a certain prescription medication, or if it can be used as a case for anxiety in a counselling session?

The truth is, putting this sort of weight onto just one gene is the wrong thing to do. Even the medical professionals are doing it to some degree.

We are literally made up on thousands of different genes, and to bank our whole existence on just one is a bit far fetched to me- even this gene's actions are affected by others in the chain.

To use the example of mental health, there are many other genes which are directly responsible for the transcription of neuroendocrines, etc..

Ace Gene: Low frustration threshold. Increased anxiety. Worsened by stress. Also having an MAO-A mutation makes this worse.

COMT Gene: This gene helps break down dopamine and norepinephrine. A defect will cause higher dopamine due to slower breakdown. Implicated in ADD/ADHD. More susceptible to dopamine fluctuations, therefore mood swings. People without COMT mutations are generally more even tempered.

VDR Gene: Vitamin D receptor. VDR is involved with Blood sugar regulation. VDR mutations oppose COMT mutations in the regulation of dopamine levels. A VDR mutation can result in behaviors opposite to a COMT mutation.

MAOA Gene: Slower breakdown of Serotonin. Can lead to high/low cycling of neurotransmitter. This enzyme requires B2 (riboflavin) in sufficient levels to function normally. Mutations are associated with mood swings, aggressive behavior, depression, anxiety, OCD and intolerance of methylfolate (which increases neurotransmitters that can't be broken down by MAO A, causing feelings of overstimulation).

ACAT1 Gene: Plays a major role in ketone body metabolism. Defects cause a 3-ketothiolase deficiency. May cause an increase in gut bugs (particularly clostridia) which can have a secondary effect on the brain chemistry and mood

MTR Gene: Helps produce methionine from homocysteine. Likely needs a methylated B12. A mutation here causes increase function and increased methyl group depletion. This can be made worse by MTRR mutations.

MTRR Gene: Necessary to regenerate Methyl-B12 for use by MTR. Mutation can cause shortage, suggesting a need for more B12.

BHMT Gene: The product the BHMT gene is central to the ‘short cut’ through the methylation cycle, again helping to convert homocysteine to methionine. The activity of this gene product can be affected by stress, by cortisol levels and may play a role in ADD/ADHD by affecting norepinephrine levels.

CBS Gene: Limits homocystine into downstream path. People with CBS mutations will need to be careful with sulfur containing supplements, including Epsom Salts. Increased risk for ammonia detoxification issues.

SUOX Gene: This gene product helps to detoxify sulfites in the body. Sulfites are a natural byproduct of the methylation cycle and are also ingested from foods. Issues with sulfites may present with behavior or skin conditions.

There are actually many more genes which are directly involved in mood regulation and behavior, and as you can see from this small listed sample, it is far more complex than identifying just ONE gene mutation and using that as a scapegoat.

It is important to understand as much as you can about the entire person when designing a treatment plan, which is why I often suggest to my patients that we do a gene profile to assess things as thoroughly as possible. HOWEVER… Even after I have one of these reports in my hands, it is vital to remember to treat the person first, and the genes second!

What do I mean by this? There are so many external factors which can play a role in whether or not a gene is expressing- environment, heavy metals, toxicity, diet, stress load, gut flora… These are all things which have the ability to switch genes on and off, or block some of the metabolic pathways which are meant occur. For example, If I meet a person who has several of the MTHFR gene mutations, but also has chronic gut dysbiosis, there is next to no use in supplementing this person orally for their genetic issues until the gut is balanced and able to absorb those nutrients!

This is not rocket science, but like a lot of 'fads' these days, many are getting the information about their genes and focusing solely on treating these. Big mistake.

I would advise that, if you do receive any sort of diagnosis with respect to your genetic profile, you seek the help of a trained practitioner who can help you join ALL of the dots on both your report and you as a person. If your aim is to combat a chronic mental health imbalance, I would recommend you seek out one of the bigger gene profiles and not just the MTHFR mutation, for all of the reasons I have stated above, and most definitely go through a practitioner who can marry this information up with your entire case history.

The take home message for today is to please remember that we are people, as complex and varied as we are, and that by reading forums and facebook pages on what has worked for one person isnt always the key to finding what's best for YOU.


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