Molecular Biology of Methylenetetrahydrofolate-Reductase (MTHF-R) and Overview of the Mutation
by Dr. Mohammad Shegeft, ND
Have you ever looked around an airport and thought to yourself: wow, we all look so different. It’s funny because, when you look a little deeper, you may be surprised how similar we all are despite the difference in our appearances. All humans have basically the same set of genes. Our differences come from tiny variations in these genes, known as Human Genetic Variation. There are multiple variants of any given gene in the human population, however on average, in terms of DNA sequence all humans are 99.8% similar to any other humans. So how is it that we look so different, act so differently and respond so differently to stimuli, both external and internal?
Although our unique individualities steams from less than 0.2% difference in our DNA sequencing, this minuscule difference has a significant impact in our biological makeup.
These variations in our genes not only influence how we behave and look, but in how our bodies react differently to external factors. One of these gene variations is seen in the methylenetetrahydrofolate reductase gene, specifically in the 677 and 1298 positions of Chromosome 1. Too much? Well turn up your focus for a moment, this ends up being pretty important. There are some technical parts, but I’ll try to keep it digestible.
Methylenetetrahydrofolate-Reductase (MTHF-R) is a critical regulatory enzyme in folate and homocysteine (an amino acid and breakdown product of protein metabolism). MTHF-R mutation has been linked to an increase risk of heart attacks, strokes and contributes to plaque formation within arterial walls, metabolism, and how your body reacts to the foods you eat and lifestyle you live. For example, someone that has an MTHF-R mutation may have difficulty metabolizing caffeine and/or alcohol and may react differently to them than a person without the mutation. Continue reading