Austin family medicine mthfr top 5MTHFR Mutation is a common mutation found in our society.  In fact, 70% of the population has at least 1 copy of the mutation.  It is commonly associated with many conditions:

  • Many psychiatric illnesses (depression, anxiety, post traumatic stress disorder, ADD, bipolar, etc)
  • Cardiovascular Disease (Heart Attacks, Strokes)
  • Blood Clots (DVT)
  • Obesity
  • Fatigue
  • Irritable Bowel Syndrome
  • Auto-Immune Conditions (Hashimoto thyroiditis, Lupus)

We have blogged about the MTHFR mutation before (What is MTHFR? And Do you have problems with your MTHFR?), so I will not waste much time discussing its effects.  The purpose of this blog is to answer some long-standing commonly asked questions.  For more information on MTHFR Basics, please go to What is MTHFR?

If the MTHFR Mutation is such a terrible mutation, why does 70% of our population have the mutation?

This answer will take some several steps.
This is a great question, and one that puzzled me immensely until I met Dr. Jain who is a psychiatrist that studies the MTHFR gene mutation.  He explained to me that the MTHFR genes are held in the body’s most critical area.  It locks the MTHFR gene in its most precious chromosome:  the first It is where the body’s most important genes are found.

If the MTHFR gene is this important, why did natural selection (survival of the fittest) allow it to become so common?

Well, the answer dates back centuries.   You will need some back story to understand the answer.
To this date, Tuberculosis kills more humans than any other bacteria.  One of the reasons for its success is that it kills people slowly and is extremely contagious.  Therefore, people with the infection live for years while still being able to spread it.  Compare this to the Ebola virus which kills its victims within weeks, and it is also extremely contagious.  The Ebola virus is not as successful as Tuberculosis because its victims die too quickly. Ebola only has weeks instead of years to spread the infection.
As it turns out, if you are able to quickly create inflammation and attack any bacteria that enters your body, you are more likely to survive a Tuberculosis infection by locking it into a cavity thus preventing it from creating a system-wide infection (latent tuberculosis).  Think of this metaphor:  If someone breaks into your house and you have a handgun that is already loaded, cocked, and your finger is on the trigger, you are very likely to fend off the intruder.  However, if someone breaks in, and your gun is disassembled, you will unlikely have the gun ready in time to fend off the intruder.  The MTHFR mutation allows the body to run around with a locked and loaded gun at all times.  Therefore, when it meets Tuberculosis bacteria, it is already ready for the fight.  Centuries ago, when tuberculosis was running rampant without antibiotics, the MTHFR gene became more common because people with the mutation survived longer than those without it. People who survive are able to have babies (who also have the mutation).  The people without the MTHFR mutation died easily and did not procreate.

Nowadays, Tuberculosis is treated with antibiotics.  It is still not easy to eradicate, but it is possible.  Needless to say, the MTHFR mutation is not as useful and people are living longer.  Now that is heavily prevalent in our society’s genome, we cannot dilute it out very easily.  It will take millions of years for it to dissipate.

What does the MTHFR Mutation and Inflammation have to do with each other?

The MTHFR mutation prevents the body from building up adequate levels of L-methylfolate which is a critical chemical used to regenerate anti-oxidants.  L-methylfolate is not technically an anti-oxidant, but it regenerates Homocysteine into Methionine which allows anti-oxidants to become antioxidants again.  Think of the MTHFR mutation as pedaling a bike with one foot.  You can only push the pedal down, if you do not have the other foot to push the other side down in order to regenerate the other pedal, then you are stuck without a pedal to push down on.
Thus, the MTHFR mutation generates inflammation without a cause because the body does not have enough L-methylfolate to regenerate Methionine.  Inflammation is known to contribute to other problems since people are living into their 80’s and 90’s.  Inflammation speeds up heart disease and blood vessel disease (plaque).

How is the MTHFR Mutation related to psychiatric illnesses?

The MTHFR mutation upsets the neurochemical balance in the brain because the brain cannot adequately produce L-methylfolate which is a critical chemical that is used in the creation of neurotransmitters.  Without adequate neurotransmitters, people are predisposed to psychiatric illnesses.  Combine the MTHFR mutation with the modern day amounts of stress, and you will understand why psychiatric illnesses are becoming more common.

What MTHFR Treatment do you recommend?

The treatment that we recommend for the MTHFR Mutation is called L-Methylfolate because it is the end result of what the MTHFR gene is supposed to create … but doesn’t.  The dosing of L-methylfolate ranges from 0.4mg (400 mcg) to 15,000 mcg (15 mg).  See my MTHFR Article for more dosing discussion (What is MTHFR?).

What about the supplement called 5-MTHF? I can get it over the counter at higher dosages than L-Methylfolate!

5-MTHF is NOT as good of a replacement for an MTHFR Mutation.  Why not?
Well, 5-MTHF has two versions of itself, and they are mirror images. The form that humans use is the L version which is L-Methylfolate. If you were to look at L-Methylfolate in the mirror, you would see its R configuration. The R version is not used by the human body. I cannot find a picture of L-methylfolate, so I have included an example of lactic acid taken from Wikipedia. As you can see, the two lactic acid molecules look similar, but the mirror image completely changes its properties.

The trouble with the 5-MTHF supplement is that it is not required to specify how much of the 5-MTHF is L or R. Therefore, it is very possible that very little of it is in the L-methylfolate form. Therefore, the 5-MTHF may be an excellent supplement, but if it does not improve your Homocysteine levels, inflammation levels, or symptoms, then you should switch to the specified L-methylfolate.