This MTHFR acronym stands for Methylene-TetraHydroFolate Reductase. It is an enzyme that converts the folate you eat into the active form that your body needs to use. Therefore when you have this genetic polymorphism your body can lack folic acid causing a wide range of imbalances in your body.

Some of which may include (there are many more):

  • Methylation imbalances
  • Homocysteine imbalances
  • Rheumatoid arthritis
  • Heart disease or strokes
  • Inflammation
  • Learning or behavioural difficulties
  • Difficulty losing weight
  • Depression or anxiety
  • Schizophrenia
  • Miscarriage or birth defects
  • Impaired detoxification
  • IBS
  • Nerve pain
  • Fibromyalgia
  • Spider veins or deep vein thrombosis
  • Migraines
  • Hormonal imbalances
  • Immune imbalances

Activated folate (named 5MTHF) goes on to give its methyl group to other nutrients and substances – a process called “methylation.” It is required for the creation of every cell in your body, so if it is not activated properly, you can imagine what a significant issue it would be. 5MTHF, along with several other nutrients are vital for a healthy body function.

There are many different possibilities when it comes to MTHFR gene mutations and science is still working to understand them all.

The reason for all the types of mutations is variations in the specific genes passed on from each parent. In other words, if both parents pass on a healthy gene, a person won’t have a mutation at all. If one parent passes on a healthy gene but the other passes on a mutated gene, several variations can occur. If both parents pass on a mutated form, there are many more scenarios that can occur.

The two most problematic mutations that can occur are C677T and A1298C, which denote the placement of the mutation on the gene. The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent:

  • Homozygous: the same gene passed on from both parents- can occur if both pass on the 677 mutation, or the 1298 mutation.
  • Heterozygous: one parent passed on the 677 mutation or the 1298 mutation but the other parent passed on a normal gene.
  • Compound Heterozygous: one parent passed on the 677 mutation and the other passed on the 1298 mutation.
  • Other more advanced and rare mutations.

In short, we are just learning the extent to which this can affect health, but there is strong evidence that because of the effect on methylation, it can increase the risk of numerous diseases and health issues.

Where can you do the test?  

The test usually costs $65 but if there is a history of health concerns connected to the gene polymorphism the cost is sometimes wavered.  Botanical Health now stocks blood test forms that you can take to your local Healthscope.

Personnel Experience

I cannot express how important this simple test is coupled with some expert advice for a healthier body system.  Since being diagnosed with  C677T homozygous I have been able to support my methylation pathways and prevent future more serious health concerns that this genetic mutation can cause. It has also given me  more insight to help clients and family members with their health imbalances and concerns.