What is MTHFR & MTHFR gene mutation?

MTHFR stands for methylene-tetrahydrofolate reductase.  It is an enzyme that converts folate that you eat into the active form (5-Methyltetrahydrofolate).  People who have MTHFR gene mutation which is a genetic disorder have a reduction in the ability to produce this enzyme which leads to serious health problems.  This important enzyme is responsible for helping your body use the essential vitamin folate, those with MTHFR gene mutation have limited capacity to use the essential nutrient which sets off a chain reaction of serious health problems that often lead to disease if left undetected.

Approximately 50% of society have at some level a mutation in the MTHFR gene that has a major affect on their life and health.  Because this condition affects so many people it makes good sense to test for the gene mutation as this would mean that ordinary methods of health care, lifestyle and nutrition would not work properly for those affected. Once a person is found to have the gene variant, personalized treatments can help those with MTHFR live a normal healthy life.

The following diagram shows how folic acid and folate pass through a set of processes that convert these important nutrients into the bio-active form of folate called methylfolate.  As you can see the MTHFR gene mutation reduces this process causing an active folate deficiency that can lead to serious health problems.

MTHFR folic acid pathwayAbout MTHFR

MTHFR is an enzyme that converts folate from your diet into an activated form of folate called 5-Methyltetrahydrofolate, when this happens your body is able to use this form of folate to produce hundreds of chemical reactions that are vitally important to having good health, some of these chemical reactions include:

  • The ability to make & use active folate
  • The ability to use other vitamins, minerals, essential fatty acids and amino acids that work with folate
  • The ability to recycle homocysteine to maintain proper methylation vital to good health
  • The ability to produce essential neurotransmitters vital for good mental health
  • The ability to make proper DNA, RNA & SAMe
  • The ability to form red blood cells and white blood cells
  • And many more chemical reaction that lead to healthy outcomes

The key thing to understand here is that MTHFR is involved in methylation.  Methylation is a very important process in the body that is vitally key if you want to be well and stay healthy.  If your methylation process has problems as in the case of those with mthfr gene mutations then your risks of health problems and serious disease is much higher.

MTHFR methylation is a process or combination of all the actions and reactions of the above examples that shows the various abilities of having and using methyltetrahydrofolate properly and all of these examples helps your body to do any of the following by a process of communication that tells your body what to do and when to do it such as:

  • Tell your various genes when to turn on and when to turn off
  • Tells your body when to turn on or off your stress response
  • Turns on and or off your various enzymes
  • Helps your body to detoxify properly
  • Controls how our neurotransmitters work
  • Helps produce energy
  • Produces powerful antioxidants that prevent aging
  • Tells your body when and where to repair tissue damage
  • Turns off inflammation
  • And many more communications that control our overall health and well being

So as you can see, at a deep level MTHFR is a powerful enzyme that is vital to many areas of your health that can influence your life and health in major ways.  Those that have this enzyme working properly are typically much healthier because they are able to carry out these bodily functions normally.

About MTHFR gene mutation/s

MTHFR gene mutations simply refers to the genetic mutation or change in the gene that is responsible for the MTHFR enzyme.  People who have mthfr gene mutations simply have a reduction in the ability to produce this vital enzyme.  These gene mutations are becoming very common and can be used to predict to a fair degree a persons outcome in terms of their health outlook in life.

MTHFR gene mutations are simple to locate with a home test kit that can tell you if you have the gene mutation and what type it is, which is advantageous if you are found positive to one or more gene mutations.  MTHFR gene mutations are measured by gene type and this can tell you what percentage reduction in the methylene-tetrahydrofolate-reductase enzyme you may have which can help greatly in terms of seeking the right treatment for the condition.

Here is a basic breakdown of the gene types and the approximate percentages they may represent:

Gene Types

Heterozygous  = 1 copy of the gene from either parent

Homozygous  = 1 copy of the gene from each parent

Approximate percentages of reduced ability to produce MTHFR (methylene-tetrahydrofolate-reductase enzyme)

MTHFR C677T Heterozygous = 40% loss of function

MTHFR C677T Homozygous =  70% loss of function

MTHFR A1298C Heterozygous = 20% loss of function (research not known)

MTHFR A1298C Homozygous  = 40% loss of function

MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function

The good news about MTHFR & MTHFR Gene mutations

Finding out you have a gene mutation is not bad news, it just sounds like it is, if you do nothing about it then you have much higher risks of having health problems and or serious diseases that result from the reduction in the mthfr enzyme.  If you seek treatment for mthfr you are essentially helping yourself to support your loss of function which helps to prevent those health problems that result from the reduction in the mthfr enzyme.

Further more if you have been suffering form the symptoms of mthfr gene mutation for some time and you have poor health now, treating mthfr gene mutations the right way can help restore good health and help prevent disease.

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