The MTHFR Gene: 3 Things you Need to Know
Updated: Feb 2, 2022
People talk a lot about 'important' genes. Certain genes seem to come into and out of fashion every few months and there are always new claims that this gene will make or break your health. The MTHFR genetic variant has been touted as the 'next big thing', and those with underlying conditions are looking for natural ways to treat it.
MTHFR is in the spotlight now, but it's important to balance the scary headlines your getting in your feeds with a broader look at how MTHFR can affect you.
Why is MTHFR Important?
Carrying one or both variants of MTHFR will reduce your ability to convert folic acid into the 'active form' of folate (which is called 5-MTHF or L-methylfolate).
Methylfolate is vital for methylation - which is important for gene expression, detoxification, neurotransmitter production, and a whole lot more.
Many carriers of the MTHFR variant are predisposed to have a nutritional deficiency of folate and therefore can have 'naturally' lower levels of folate. This deficiency can contribute to birth defects (due to not enough folate), fatigue, brain fog, anxiety, depression, poor sleep and more.
The Problem with the Typical Approach
To compensate for this, many people are being told by doctors, nutritionists, personal trainers and health bloggers to simply take high doses of methylated folate and B12 (B12 is usually included in these supplements as it has synergetic benefits when given with L-Methylfolate).
These high doses can be an inadequate approach and can be actually be dangerous for some people, as it can cause additional imbalances and serious symptoms.
In order for your genetic data to be truly useful, you need to look at it as a whole. Genes do not express themselves in a vacuum. There are many other detoxification genetic variants that may be affecting you even more than MTHFR.
Two people with similar genetics can have vastly different biochemical needs, identifying these needs and filling the gap between your genetic function and optimal health is the key to you being symptom free and healthy.
1. MTHFR: Not Alone in Methylation
The body has a tremendous ability to adapt and compensate. Many people are carriers of the MTHFR genetic defect but not all them have impaired health or develop symptoms.
This is because the body can compensate by speeding up other parts of the methylation cycle.
On the other hand, I see people who are taking methyl-folate and methyl-B12 yet they still have symptoms and are no better than before they started methylated B vitamins. Some had even developed severe symptoms (see #2).
This is often due to the fact that there are other methylation related processes and genes that have not been evaluated and treated. Some of the more common genetic variants associated with methylation are - BHMT, PEMT, MTHFD, CBS, MTRR, MAO, COMT, and VDR.
2. High Doses of Methylated Folate & B12 can be Problematic
There are generally three types of MTHFR responses to high doses of methylated folate (10g or over) and methylated B12 supplementation. The dosage that is right for you is highly dependent on your overall biochemistry and lifestyle. For some people even 1-2mg of methylfolate may be considered a high dose.
Group A - These high doses can work for them, they have renewed energy and feel great. Even for these people, I would caution against such a practice long term because both methyl-B12/methyl-folate are so powerful and influence so many chemical processes in the body that long-term use can trigger chemical imbalances.
Group B - They feel great for about two weeks before 'crashing.' After that they feel worse than before. These patients can start to develop mood swings, anxiety, depression, a return of initial symptoms, headaches, migraines, nausea, stomach pain and other digestive symptoms.
Group C - This group feel terrible initially (with the symptoms above) and only feel worse when high dose methylated folate and B12 are continued.
All of these patients 'need' these vitamins, but the presence of additional genetic variants and the person's individual nutritional needs cause their body to utilize these methyl B vitamins in a way that can cause symptoms.
The patients that have reactions to methylated folate and methylated B12 may have additional genetic variants involved in the methylation process or have health conditions preventing the proper utilization of very high doses of methylated folate and B12.
In those who react to high doses of methylated folate and B12, it can be an indication of the acceleration of certain disease processes so it is a good idea to consult with a functional medicine doctor who understands the process of methylation in the context of overall health.
If you have a reaction to methylated folate and methylated B12, it does not render folate and B12 unimportant - it just means it must be administered in a strategic way.
3. Genetic Data Alone is Not Effective
The oversimplified formula of 'this gene = this disease, so take this supplement' is misleading and can be potentially hazardous to your health.
With the exception of inheritable genetic diseases like sickle cell anemia, genes do not play a major role in the development of symptoms or chronic disease.
A healthy diet, lifestyle, and environment directly influences the expression of healthy beneficial genes just as an unhealthy diet, lifestyle and environment can activate the expression of harmful disease-contributing genes.
How Functional Medicine Fills the Gap
A surgeon's scalpel is a lifesaving instrument when used by a surgeon - but by itself, it's just a sharp knife. The same can be said of your genetic data.
A functional medicine doctor can evaluate your entire medical history and order advanced testing not typically utilized in hospitals.
Based on your current conditions, symptoms, testing results, family history and nutritional needs - I can put your genetics in context with your overall biochemical needs so your interventions can work together.
I am asked a lot which genes are the most 'important' - the answer is all of them. Looking at the patient as an individual as opposed to a diagnosis or a carrier of a gene variant is the way medical information can be the most useful to an individual.
Functional medicine uses genetic data as another reference point in addressing your health. Just like eating one superfood won't make much of a difference overall, treating one genetic variant probably won't either - the whole picture is what is matters most.
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