MTHFR Monday--What IS it, anyway?

Welcome to the first weekly MTHFR Monday!  :)  On Mondays in the coming weeks, I'm going to explain a little bit about what MTHFR is, how you can find out if you have the defect, why you would want to know if you have the defect, and what can be done about it if you do have it.  I'll also explain how Daniel and I are working through the dynamics of things in our own family.

Methylenetetrahydrofolate reductase, or MTHFR for short, is an enzyme that is encoded by the MTHFR gene. Yeah, it's confusing. Why the scientists decided to name the enzyme and the gene with the same name is beyond me. The enzyme is the catalyst for the conversion of 5,10-Methylenethetrahydrofolate into 5-methyltetrahydrofolate, which is also known as levomefolic acid. This is the active form of folic acid, which is used at the cellular level for such things as DNA reproduction, amino acid cycles, and amino acid levels. Having a genetic variation on the MTHFR gene causes the enzyme produced to be not-quite-right.

Genetic variations in the MTHFR gene can lead to vascular disease, neural tube defects, and some types of cancers.

The MTHFR gene is located on Chromosome 1, which means everyone gets one MTHFR gene from each parent. So, everyone has TWO MTHFR genes that could potentially have a genetic variation. They are located in different places, so they have different names. One is the 677 gene, and one is the 1298 gene.  A "normal" 677 gene would be C677C, having two Cytosines. The variation on this gene is to have a Thymine, producing C677T, or T677T. The 1298 gene is normally A1298A. The variation would replace an Alanine with a Cytosine, ending up in A1298C, or C1298C. 

In Daniel's case, he only has the C677T variation, which means he has a fairly mild "case" of MTHFR deficiency. This means that his 1298 gene is fine, and only one half of his 677 gene has been affected.