s someone who has family and friends with MTHFR (methylenetetrahydrofolate reductase) mutation. I have done quite a bit of research pertaining to its effects, how to help those affected, and their long term goals. MTHFR is not the end of the world, though it does require testing to determine the polymorphism (variations) in the gene.
Simply said MTHFR is necessary for amino acid processing and converting 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. It also helps to convert homocysteine to methionine, another amino acid. So what does this mean, and how does if effect someone with MTHFR mutations?
Lets start with the basics on folate. Folate is a b-vitamin that must be supplied through food or supplements. Simply put, we can not make it, so we rely on foods or supplements “enriched” with folate. Folate (folic acid) does several things I would deem pretty important. It is used to make and repair DNA, and is linked to neurotransmitter production which helps with anxiety, depression, and mental clarity. Folic acid is utilized when cells are rapidly dividing and growing, such as in pregnancy. One of the main reasons pregnant women take folic acid is to prevent neural tube defects, which is when the spinal column doesn’t close completely. Folic acid also helps to produce healthy red blood cells. Inadequate amounts of red blood cells can ultimately lead to a lack of oxygen delivery to tissues, pretty important considering organs such as your heart and tissues need oxygen. Folic acid also reduces homocysteine which is an amino acid that can lead to endothelial cell damage. Endothelial cells are typically found on the interior of tissues and can be found from the heart to your smallest vessels.
So is folic acid important? I think so.
So how does MTHFR fit into this. MTHFR converts inactive folic acid to the active form of folic acid known as L-methylfolate. L- Methyfolate is what is responsible for all the things I just mentioned above. Don’t believe me? Check out the following NIH link . Folic acid has to be converted in order to be useful in our body processes. It is said 40%-60% of the population and sources vary on the percentage have a deficiency or some mutation variant of MTHFR. I won’t go into detail on this, but there are several variants that can increase your risk of running into potential problems sooner than later. Look at this link posted regarding pregnancy and L-methylfolate – it was published in 2011 in Obstetetrics and Gynecology and it references material back to 2004. These physicians agree that you should take L-methyfolate supplements with inadequate MTHFR activity.