MTHFR Mutation glossary

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

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 C677 mutation, or the A1298 mutation.
  • Heterozygous: one parent passed on the C677 mutation or the A1298 mutation but the other parent passed on a normal gene.
  • Compound Heterozygous: one parent passed on the C677 mutation and the other passed on the C1298 mutation.
  • You can routinely test for these 2 genes with a blood test.

What Happens When the MTHFR Gene is Defective?

Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme (estimates range from 20%-70% or more). This can make it more difficult to break down and eliminate not only synthetic folic acid but also other substances like heavy metals, xenobiotics and break down prescription drugs.

Since Folate can’t be converted into the usable form: Methylfolate (5-MTHF) in sufficient amount, methylation processes cannot occur in our body leading a raise of homocysteine levels. High homocysteine levels are associated with a higher risk in cardiovascular disease and many other chronic conditions including auto-immune diseases. This also affects the synthesis of glutathione (our main anti-oxidant), needed to remove waste, harmful chemical from our body.

Everyday new research are published and we are just learning the extent to which this can affect health, but there is strong evidence that because of the affect on methylation, it can increase cancer risk, cardiovascular disease risk, risk of fetal development problems and more. It can also possibly contribute to or exacerbate other problems like autoimmune disease, mental issues and more.