These new genetic tests are useful for finding risk factors for illness, genetic predisposition to diseases, and even a person’s capacity to detoxify medications and chemicals is already available as a diagnostic tools for doctors to help guide treatment or influence lifestyle choices. One of these genetic mutations that stands out above the rest (and is still available) – is testing for the DNA mutation called MTHFR.
Methylenetetrahydrofolate reductase (MTHFR for short) is an enzyme that converts the folic acid (vitamin B9) from our food or supplements to an activated form of folic acid – methyl folate. I know that most peoples eyes glaze over one I mention biochemistry, but this one little conversion is a “rate limiting step”, or potential bottleneck, for an important bodily process called methylation. Methylation occurs in every one of our cells and affects some of the most important body functions.
To simplify methylation, it is the process by which a small molecule called a methyl-group (one carbon and three hydrogens) is added to a second molecule to change its function or “activate” it. Methylation is involved in critical reactions in the body such as repairing damaged DNA, creating mood-regulating neurotransmitters (serotonin, dopamine, & norepinephrine), the regulation of hormones, anti-oxidant function, immune and nerve function regulation, and even fetal development. With the advent of genetic testing, we have found the MTHFR mutation to be fairly common – up to 30% of some ethnic populations! That is 1 in 3 persons. Someone with the MTHFR mutation, and therefore the enzyme it codes for (also called MTHFR), has reduces or severely limited MTHFR enzyme function.
Ok, yes, genetics is boring and seems complicated and academic. Not going to argue with that. But researchers have been studying this one particular medication since the 70’s! So I want to share why I think this is so important and why you should care, and will do that by answering 2 questions: why is knowing this mutation important, and why should someone care?
First a basic genetics primer: DNA is in every cell in the body and has all the instructions for creating and maintaining all bodily functions. We all have two copies of each gene in our DNA – one from our mother, and one from our father, and each of these can be normal or defective (mutated). Mutations can occur from random errors not properly corrected, from ultraviolet rays, chemical insults, the presence of heavy metals, and nutrient deficiencies.
With regards to MTHFR, having one copy of the defective MTHFR gene can reduce the activity of the MTHFR enzyme (and therefore methylation) by 40%, and having two defective copies can limit the enzyme’s activity 70%! And methylation is important because the list of diseases potentially affected by faulty methylation is extensive. Some of the more common include depression, anxiety, fibromyalgia, cardiovascular disease, chronic fatigue, ADHD, autism, insomnia, and neuropathy. More severe conditions include cancer, Crohn’s disease, Alzheimer’s, Parkinson’s, neural tube defects, cleft palate, and recurrent miscarriages. The entire list includes many of the most common chronic health conditions seen by most doctors.
This is because methylation affects some of the most basic of cell functions: protection of our DNA, and determining if particular genes are turned on or off. One popular cancer drug, methotrexate, is designed to interfere with the function of folic acid (and therefore methylation) to affect cancer cell growth because all of our cells (including cancer cells) require it to grow, divide, and repair.
Knowing our “methylation status” is also also important because many of us are not eating enough of our green leafy vegetables, which is the source of a “better” form of folic acid. (Folate is from the latin word folium, which means leaf). So a combination of the MTHFR mutation and a poor diet can severely inhibit overall methylation. Methylation also relies on other “supportive nutrients” – the folinic acid (natural folic acid) from dark green leafy vegetables, vitamin B6 and B12 from meats, and B2 from meats, eggs, nuts, dairy, and (once again) green vegetables.
So why not have everyone take plenty of all these nutrients and be done with it. This is the approach pharmaceutical companies, who are now producing high dose Methyl Folate “medications”, are taking. But it turns out that if we take too much of the synthetic or active folic acid, it can actually makes the methylation problem worse. Why? Because it creates a situation of imbalance with the other nutrients it interacts with. In those with the MTHFR mutation, methylation becomes a gentle balance of inputs (nutrients) and outputs (methyl groups) and too much of one or too little of the other can offset the balance. Sometimes diet and lifestyle changes can improve this, but for those with the double mutation, the removal of substances that are inhibiting methylation as well as targeted and balanced supplementation is necessary.
The good news is that there is a simple blood test to determine if you have the MTHFR mutation as well as treatments to help mitigate the effects! At this point in the genetic information revolution, are many genetic mutations one could potentially for, but the incidence of this particular mutation ranges from 20-40% of the general population. With the number of body systems affected, MTHFR is one of the first genetic tests to consider. Furthermore, if someone tests positive for one or both of the mutations, there is a high likelihood that immediate family members (mother, father, children, etc.) will have the same mutation and could benefit from a similar treatment. Lastly, testing for the mutation in a pregnant mother could help prevent the associated conditions from manifesting in the unborn child at all! This becomes a gift for the mother and the baby, and possibly to future generations as well.