What is MTHFR?
Did you know that more than half of the world’s population has an MTHFR gene mutation?!
If you’re visiting us, chances are you’ve heard of MTHFR. Perhaps you or someone you love has recently discovered that an MTHFR variant is responsible for many years of unexplained health issues.
We can’t all be scientists, and we don’t always have the time or energy to dive into the minutiae on every subject, including MTHFR.
That’s where Methyl-Life® comes in!
A few examples of informational topics we cover on our site are: MTHFR Symptoms, Treating MTHFR, MTHFR and Methylation and more ... But before we get to all that, let’s make sure we're on the same page…
What is MTHFR, and what does it mean to have an MTHFR mutation or MTHFR deficiency?
MTHFR stands for Methylenetetrahydrofolate Reductase. It is a key regulatory enzyme in the metabolism of folate. It also refers to a specific gene that plays a major role in the body’s methylation process. Both the enzyme and the gene have the same name, MTHFR.
However, when people talk about “MTHFR,” they’re usually not talking about either the enzyme or the gene, precisely. They are more typically referring to one of the two common MTHFR gene mutations or that causes the enzyme to become imperfect and much less effective in the body.
The gene’s role is very complex, and MTHFR gene polymorphisms (or variants) have been the focus of recent discoveries uncovered by the Human Genome Project. In fact, thanks to the Human Genome Project, we now know that there are as many as 60+ variants of the MTHFR gene! The two most well-known 677 & 1298 were discovered in 1995 and 2001, respectively.
MTHFR SNPs (or Single Nucleotide Polymorphisms) are often referred to as ‘mutations’ or ‘defects’ because of the problems they cause in the body. MTHFR most often refers to the two most well-known genetic SNPs (677 and 1298) that inhibit the ability of the body to methylate (or convert folate into L-5-Methyltetrahydrofolate - which the body requires for absorption and direct use). Instead, these mutations make imperfect folate coenzymes which don't work properly to generate all of the important downstream processes like:
- Synthesize DNA to regulate gene expression
- Develop a healthy central nervous system
- Promote balanced neurotransmitters like serotonin
- Protect neurons by generating myelin
- Regulate homocysteine levels for cardiovascular health
- Produce glutathione for detoxification
- Support healthy pregnancy and fetal development
- And many more ...