MTHFR Mutation – The Celebrity Gene
The MTHFR mutation has become the Celebrity Gene. It is the single most talked about mutation in the entire genome. If you are a stranger on the street and you know one gene mutation – it is most likely the MTHFR gene. So what is it? What is all the fuss about? Do I need to know my status? What do I do about it? With this article, I would like you to be able to walk away knowing the basic answer to all of those questions. However, this article is not intended to fully answer all of these questions in grave detail or map out the biochemistry to every reaction involved.
What is the MTHFR Mutation?
The MTHFR Mutation is commonly found in the US population. In fact, 70% of people in the US have at least 1 mutation. Most people do not have symptoms. If you suffer from depression, anxiety, IBS, brain fog, inflammation, or heavy metal symptoms, you may be one of the people that are symptomatic from this enzyme mutation. If you have high levels of inflammation or homocysteine, then you should know that you are being affected by your MTHFR mutation.
The MTHFR enzyme is found throughout your body. Its functions include:
- Anti-inflammation / anti-oxidation
- Detoxification of heavy metals (Mercury, Lead, etc)
- Production of neurotransmitters in your brain (Serotonin, Dopamine, Norepinephrine, Epinephrine)
What is my MTHFR Status?
There are multiple mutations in the MTHFR enzymes and each has different severities. There are two conformational mutation changes (you can ignore the other mutations). The only two that matter are at positions 677 and 1298.
You get 1 gene (or allele) from each of your biological parents. At each position, you can have 2 normals, 2 abnormals (homozygote), or 1 of each (heterozygote). You can have a total of 4 mutations (extremely rare to have 5 mutations and be alive).
Each mutation or combination of mutations has different severities. Getting 1 bad and 1 good allele is not as severe as 2 bad alleles. If you have 1 of each allele, you are aheterozygotefor the mutation. However, if you have 2 bad alleles, then you are ahomozygotefor the mutation. Being ahomozygoteis the most severe mutation. However, if you have 2 heterozygote mutations, you are called acompound heterozygote. We grade mutation severity by the amount of L-methylfolate that they produce.
The normal genes for 677 is C/C. The bad allele from 677 is T.
Therefore, C/C is normal, C/T is heterozygote (bad), and T/T is homozygote (worst).
The normal genes for 1298 is A/A. The bad allele from 1298 is C.
Therefore, A/A is normal, A/C is heterozygote (bad), and C/C is homozygote (worst).
Now that you understand the mutations, let’s combine them. The rankings from worst to best:
|677||1298||Decrease in MTHF||677 / 1298|
|MTHFR T/T||MTHFR C/C||66%||Homo / Normal|
|MTHFR C/T||MTHFR A/C||50%||Compound Hetero|
|MTHFR C/C||MTHFR C/C||33%||Normal / Homo|
|MTHFR C/T||MTHFR A/A||33%||Hetero / Normal|
|MTHFR C/C||MTHFR A/C||15%||Normal / Hetero|
Why should I take L-methylfolate?
The MTHFR Enzyme is responsible for converting folic acid, or folate, into the final active component called L-Methylfolate (L-MTHF or MTHF). With mutations, you are not able to produce as much L-Methylfolate as your body needs. By taking L-methylfolate, you bypass the MTHFR Mutation. L-methylfolate helps create neurotransmitters, which can reduce symptoms of depression, anxiety, or focus problems. It is unlikely to “cure” you nor allow you to stop medications. However, you may notice that you can reduce medication dosage. You also may notice less mood swings, irritability, or brain fog. You may have a boost in energy. By treating the MTHFR Mutation, you will improve detoxification of heavy metals. Glutathione detoxifies heavy metals and requires adequate L-methylfolate in order to regenerate its ability to detoxify.
How do I treat my MTHFR mutation?
There is a spectrum of treatment options for MTHFR, and it is different for every person. Moreover, as we have learned more about the MTHFR enzyme, our treatment suggestions have changed.
High Dose L-Methylfolate (Deplin)
Previously, we used high doses of L-Methylfolate. In fact, the dosages were so high that it is by prescription only. This prescription is called Deplin. This was an expensive way to treat the MTHFR mutation, and it did not address the rest of the methylation cycle.
Active B Complex
Now, the thinking is completely different. Instead of using high dose L-Methylfolate, we are recommending low dose L-methylfolate (400–800 microgram or 0.4-0.8mg) and using the rest of the B complex vitamins to keep the methylation cycle spinning. When using high dose L-Methylfolate, it is like spinning one wheel of a car while hammering the brakes on the other 3. Most people do fine with high dose L-Methylfolate, but after a while, it burns up the intermediates and it causes a fatigue and brain fog months down the road. Instead, by adding low dose L-Methylfolate with the entire B Complex, you gently increase the methylation pathway in balance.
Once you are doing well on low dose L-Methylfolate, you can begin increasing the dosage of L-Methylfolate to 800-1200 micrograms (0.8 – 1.2mg).
How long do I need to take L-Methylfolate?
Since this is a genetic mutation and your DNA doesn’t change, you will need to take methylation support for the rest of your life.
Should I avoid Folic Acid (folate) in my supplements?
As a MTHFR mutant, you want to avoid excess folic acid although you do not need to avoid it completely.
Fruits and Vegetables have folic acid (folate).
We do not recommend avoiding folic acid found in nature. Fruits and vegetables are naturally high in folic acid.
Folic Acid is added to “fake” foods or processed foods.
We suggest eliminating extra folic acid from “fake” foods. The US has been adding folic acid to cereals, breads, etc for decades. In fact, Cap’n Crunch is one of the highest sources of folic acid in the grocery store.
Folic Acid in Supplements
Folic acid is used in a plethora of supplements. Most of the high quality supplement companies only use L-Methylfolate or MTHF in their products. 100% of the supplements that we recommend only have methylfolate.
We recommend avoiding any supplements with regular folic acid as this is usually a sign of poor quality, and you do not need extra folate.
You can tell if a supplement has L-Methylfolate because it is always on the label. For instance, it should look like this:
Folate (L-methylfolate or 5-methyltetrahydrofolate)
Avoiding folic acid reducers
You should also be avoiding medicines that reduce folic acid. If you are already a poor metabolizer of folic acid and you reduce your folic acid levels, your problem is exponentially worse. You should avoid medicines like:
Antacids (Omeprazole, Ranitidine, Tums, Rolaids)
Where can I get L-methylfolate?
As discussed in the above question, you can get L-methylfolate from standalone products, activated B Complex, and multivitamins.
I find that in my practice, a high quality B Complex vitamin restores 90% of people’s methylation cycles. You can purchase Glycogenics from my online store here.