Types of MTHFR Mutation
There are many different possibilities when it comes to MTHFR gene mutations and science is still working to understand them all. I've included links to more in-depth resources below, but 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 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.
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