What Genetic Mutation Does 1/3 of America have? MTHFR! What is that?

Posted on

MTHFR mutation, discovered by doing a Homocysteine blood level, could prevent infertility and strokes, pulmonary emboli, heart attacks.

There is a silent and UNTREATED, UNTESTED mutation than affects 1/3 of Americans, that causes pulmonary emboli, heart attacks and strokes, and can be treated/prevented by just taking a specific vitamin!   No one talks about the MTHFR genetic mutation that can be diagnosed by testing for high Homocysteine and can be treated by simply changing the B vitamins that you take to methyl-B12 and Methyl Folate!  Simple and easy, and can prevent a multitude of diseases, for both young and old.   There is an abundance of information in journals of medical specialties who still don’t embrace testing for this mutation, therefore they don’t diagnose and treat this very expensive problem with a very inexpensive vitamin.  What the heck is going on in American Medicine?

American Medicine treats one symptom or current illness at a time and is completely blind to preventing disease unless a very expensive drug can treat the problem, such as statins to prevent heart attacks.  Preventive, individualized medicine is a thing of the future because US medicine is stuck in the past.

I discovered the MTHFR mutation decades ago because as a GYN I treated infertility.  MTHFR mutation causes multiple miscarriages and pregnancy losses in fertile women who have the mutation.  In the diagnosis of why someone miscarries this is often the answer.  Treatment is NOT TAKING plain vitamin B12 called cyanocobalamin, or regular folic acid.  The second part of the treatment is TAKING methyl B12 and methyl-folate.   When we tested patients for the MTHFR mutation we found it was fairly common, in fact so common, that the FDA should change its recommendations for multivitamin supplements and B complex vitamins, as well as prenatal vitamins to include Methyl folate and methyl cobalamin instead of the non-methylated vitamins that can cause both infertility in the young and heart attack and stroke in the aging population.

Why doesn’t the government change the recommendations for B vitamins in all supplements, and prenatal vitamins to save babies lives? I believe that I have a granddaughter today because my brilliant daughter took methyl B12 and Methyl folate instead of the standard prenatal vitamins!  I have this mutation as well and I had 5 miscarriages and I believe that my one gene mutation caused them…and 36 years ago I was not aware of this mutation, or how to fix it.


How do we find this mutation?

MTHFR mutation, discovered by doing a Homocysteine blood level, could prevent infertility and strokes, pulmonary emboli, heart attacks, and vascular disease in older Americans. If doctors do diagnose a high Homocysteine, they recommend giving more B12 (not methylated) and Folic acid and patients get worse and are at higher risk than before.

As for mature adults who have had a whole lifetime of exposure to the wrong type of B12 and folate, the form of the vitamins a third of us cannot metabolize, we have a lifetime of

soft plaque collections in our blood vessels which is just as dangerous as the hard plaque from cholesterol atherosclerosis plaques that statins treat. Soft plaque breaks off as emboli and causes blood clots, pulmonary emboli and emboli to the brain causing strokes and emboli to the heart causing a heart attack. One third of us have this mutation, but few of us know about it.  Taking the right kind of B vitamins can stabilize these soft plaques and even reduce them, thereby preventing the embolization they cause.

Why are fewer people diagnosed from an abnormal Homocysteine and tested for MTHFR?   Even if your doctor does a Homocysteine blood level, by drawing your blood at the laboratory.  the lab companies have a skewed view of the “normal levels” of homocysteine.  They give you the “average for the people they test” and call it “in range”, but if 1/3 of the population is abnormal statistically the “normal” is skewed to > 10.4.  My normal for patients who don’t have the mutation and are not at risk for collecting soft plaque, is < (less than) 8.0.  If you have less or equal to 8 you are probably safe. If you are above 8.0 you are either taking Methyl-B12 and Methyl-folate or you are not carrying a mutation.

How does Homocysteine work to cause soft plaque?

If you are normal, and don’t have this mutation, when you eat food with B vitamins or you take B vitamins in a supplement, the B  vitamins go to your liver to be converted into the active form of B12 and folate, methyl B12 and methyl folate, they are then sent to your bloodstream to be used by all of your cells, nerves, brain, blood cells, muscle cells…almost every cell in your body needs these B vitamins.

If you have one or two mutations in the MTHFR, the methylation enzyme that converts plain B12 and Folic acid into methyl B12 and Methyl folate doesn’t work. Your blood test looks like a normal B12 level (between 500-1200), but it isn’t methylated, and it can’t work in your body.  What does your body do with something it can’t use? It disposes of the unusable vitamins into the arteries as soft plaque.  This is the plaque that is loosely attached to the arteries, which tends to get loose as an emboli, or chunk of this “trash”, which then circulates to your lung, heart or brain and causes a blockage which stops circulation to this tissue, causing a pulmonary embolism, a stroke, or a heart attack. This is all preventable if the diagnosis and right kind of     B vitamins were given.

What are the Symptoms of MTHFR mutation?

Generally, patients do not have symptoms that are obviously caused by low B12 or folate until later in life, however there are general symptoms that we should look for as a trigger to test for the MTHFR mutation early on.  These symptoms include:

  • Fatigue
  • Irritability
  • Anxiety
  • Fatigue
  • Depression
  • Poor memory
  • Constipation
  • Food sensitivities
  • Hot and cold flashes
  • Sore muscles
  • Numbness
  • Dermatitis
  • Cognitive impairments
  • Circadian Rhythm Disturbances
  • Infertility
  • Miscarriages

 Why are there so many different opinions on what to take to treat the symptoms of B12 and Folate deficiencies and to prevent these medical disasters?

Some doctors don’t understand the way this mutation works. Their advice is to increase taking B12 and folic acid, which I have found makes people worse because it causes more soft plaque.

It is imperative that people with this mutation take already methylated folate and methyl B12, or they will only get worse. The ideal way to treat this is to avoid Cyanocobalamin which will make your condition worse. The ideal treatment for MTHFR mutations and high Homocysteine is methylcobalamin or methyl-B12, or Hydroxocobalamin.

Treatment: For oral Methyl B12 and Methyl folate I prefer Thorne Basic Nutrients 2/day, or Jarrow chewable Methyl B12 1000 micrograms + Methyl folate 400 micrograms daily.


I am always amazed when I find easily treated and or prevented illnesses that can lead to severe disease in later life, that is not emphasized by the controllers of medical practice, the “colleges” of cardiology, or gynecology or whatever specialty that concerns the patients who are affected. Without the guidelines being written, most doctors are totally unaware of the real cause of the disease they are treating, so they don’t look for it. If a doctor doesn’t take a temperature, they can’t diagnose a fever!  Doctors are generally rule followers who do whatever their specialty society tells them to do, and nothing more.  It seems that easily treated preventable diseases are not high on the list of specialty societies in medicine, or on the list of the FDA because it isn’t treated with an expensive medication they can approve, so the agencies that could educate doctors and patients are blind to this cause of the above diseases and therefore doctors have no idea how many diseases they could treat with just one vitamin change.

This Health cast was written and presented by Dr. Kathy Maupin, M.D., Bio-identical Hormone Replacement Expert and Author. 

www.BioBalanceHealth.com  (314) 993-0963

Please subscribe to our YouTube channel and please check “ Like “.  Follow us on Facebook and Instagram at BioBalanceHealth.


Related Post: