Wellness Associates of Katy, LLC  - Arlene M . Loeschen, RN, MSN, FNP-BC, BC-ADM, CDE
“I believe the MTHFR gene mutation is a highly significant public health problem that is completely ignored. Yet, millions are suffering from pulmonary embolisms, addictions, fibromyalgia, miscarriages, schizophrenia, severe depression, cancer and autism to name a few. What do these conditions have in common? They all may be linked to a MTHFR gene mutation in the individual expressing these symptoms and health conditions.”
                                                                                          Dr. Ben Lynch, Founder MTHFR.net
It is estimated that approximately 70% of the population is living with a folate deficiency. This deficiency may be present because folic acid, the most common form of folate in supplements and fortified foods, must be converted by an enzyme to its active forms, to be used by the body. The enzyme needed to convert folate to its active form, methyl folate, is called methylenetetrahydrofolate reductase (MTHFR). There is an MTHFR gene that controls how well the MTHFR enzyme works. The problem lies in the fact that almost half of all people have genetic variations that reduce the ability of the MTHFR enzyme to make this conversion.
When there is a mutation in the gene it inhibits the body's ability to methylate. Methylation is a chemical reaction that occurs in every cell and tissue in our body to convert folic acid into methyl folate. Methyl folate is the active and usable form of folic acid, and if the body is not getting enough of this usable folate at the cell level, a dangerous cycle begins and can lead to deficiencies and multiple health problems. The methylation of proteins helps our bodies detoxify. For example, the methylation process helps convert the toxic amino acid homocysteine into a beneficial amino acid, methionine. High homocysteine is abrasive to blood vessels, essentially scratching them, leaving damage that causes heart attacks, stroke, dementia as well as other problems. Adding a methyl group to a protein changes how that protein behaves. Enzymes, hormones and even genes are proteins and the process of methylation affects them all.
This deficiency usually occurs because folic acid, the most common form of folate in supplements and fortified foods, must be converted to its active forms to be used by the body. Our ability to detoxify is extremely hindered when the methylation process is interfered with. Think of a revolving door…. On a daily basis, toxins are coming in, and in a normal healthy individual, toxins are also going out. But when you have an MTHFR mutation, toxins get trapped, and will continue to build up over the years.
Other methylation reactions that may be compromised are methylation reactions that affect neurotransmitters which can lead to anxiety and depression. Inefficiency of the MTHFR enzyme is also linked to migraines, autism, fertility, cancer and birth defects, all of which depend on proper methylation.
The most common gene mutations occur in the 677 and 1298 genes. It is possible that you may inherit one or two variants in each of the genes. The more variants inherited the more likely you may note problems.
Mutation 677– This mutation is most commonly associated with heart disease, heart attack, high blood pressure, stroke, blood clots, peripheral neuropathy, anemia, hypothyroid, autoimmune diseases, miscarriages, congenital birth defects, and more.
Mutation 1298 – This mutation is most commonly associated with chronic illnesses, such as: depression,  fibromyalgia, chronic fatigue syndrome, migraines, IBS (Irritable Bowel Syndrome), Memory loss, Alzheimer's and Dementia, OCD, Bipolar, Schizophrenia, and more.
Methylation can also be disturbed by other factors besides genetic mutations. These include things like lack of cofactors such as zinc, magnesium, and B6, medications such as antacids, methotrexate and niacin. Exposure to environmental toxins, heavy metals, and chemicals can also interfere with methylation cycles.
What can one do if you have one or more variant copies of the gene? First of all get tested to see if you have a genetic variation if any of the above problems are or have affected you. Nutrition is a big contributor to how well the methylation pathways function. Depending on the number of variants you have you may be able to compensate by only taking some additional vitamins. If you have any variants in the gene you should avoid all folic acid in vitamin supplements and only use  a more readily usable form of folate called methyl folate or 5- methyltetrahydrofolic acid (5-MTHF). You should also avoid the common form of vitamin B12 called cyanocobalamin and again only use forms of B12 that are already broken down and ready for the cells to use such as methylcobalamin or hydroxycolbalamin. Folic acid and cyanocobalamin can actually interfere with the process of methylation and cause more harm than good. Other important vitamins to support all the cycles are B6, SAMe, supplements that increase circulation as well as supplements that are cofactors in our energy cycles. You should also avoid processed, fortified, foods and supplements containing the folic acid form of folate. It is not as easily used by people with an MTHFR mutation and may interfere with the absorption of l-methylfolate.
Strive to eat a diet that is healthy in general and includes folate-rich foods. Leafy greens, broccoli, lentils, and many beans are great sources of usable folate, fiber, and other nutrients.
If you have been experiencing problems it is also a good idea to follow a detoxification diet and use supplements to clear harmful toxins from your body.
If you are planning a pregnancy and are positive for an MTHFR mutation, you may also need to add either low-dose aspirin or a blood thinner to your regimen to reduce the risk of blood clots associated with early miscarriage. Again, consult your healthcare provider to see if this is appropriate for you.
We are here to help you overcome problems related to the MTHFR gene variations. Give us a call and set up an appointment.