Methylation (MTHFR) Testing & Folate Deficiency
Six genes have been chosen by our experts to be analyzed for SNPs in the area of Methylation on our 26 gene report. The report algorithms, created by our medical experts, will take the patient's genetic results and create nutritional recommendations based upon several factors and their clinical expertise. The built-in software takes out the guess work and allows the provider to recommend the proper nutrition safely by your DNA results.
The methylation cycle is the ideal pathway to focus on for nutrigenomic analysis because the proper function of this pathway is essential for over 200 processes in the body.
What is MTHFR? What is Methylfolate?
Methylenetetrahydrofolate reductase, or MTHFR, is a key regulatory enzyme in the metabolism of folate. It also refers to a specific gene that plays a major role in the body's methylation process. Both the enzyme and the gene have the same name, MTHFR. The gene's role is very complex, and recent discoveries have been focused around the MTHFR gene polymorphisms (or variants). These polymorphisms are often referred to as 'mutations' or 'defects' because of the problems they cause in the body.
Most often when you hear someone talk about MTHFR, they are actually referring to one of the two common MTHFR gene mutations that causes this MTHFR enzyme to become imperfect and therefore much less effective.
Simply stated, MTHFR most often refers to a genetic mutation that inhibits the body's ability to methylate or convert folic acid from the food we eat into Methylfolate.
Methylfolate is most often referred to as the 'active' or usable form of folate that our cells require. Because the body's cells cannot actually use folic acid, it must first go through a metabolic pathway or 4-step conversion process to become Methylfolate before the cells can use it . It is this metabolic pathway that the MTHFR gene defect inhibits and cause methylation deficiencies and/or neuro-immune syndromes.
The learnings about this gene defect have come out and taught us that there are as many as 50+ variants of the MTHFR gene. However, only two are considered 'common' defects that todayís MTHFR Blood Test checks for and are the: 677 and 1298 (discovered in 1995 and 2001).
MTHFR Gene Variations
Everyone receives one copy of the MTHFR gene from each parent. This means a person could have any one of the following combinations as well as the issues that go with it:
Normal / C677T - More susceptible to neuro-immune syndromes, environmental damage, depression, central nervous system issues, etc. (referred to as Heterozygous)
Normal / A1298C - More susceptible to neuro-immune syndromes, environmental damage, depression, central nervous system issues, etc. (referred to as Heterozygous)
A1298C / A1298C - Denoted as 1298CC - Much worse for the above problems (referred to as Homozygous)
C677T / C677T - Denoted as 677TT - Similar to 1298CC plus heart disease, blood clots, and more (referred to as Homozygous)
C677T / A1298C - Susceptible to all of the above and worse for strokes, heart disease, blood clots, etc. (referred to as Compound Heterozygous)
Methylation, Folic Acid, and Folate Deficiency
Methylation issues like being unable to fully convert folic acid to the active, usable form of folate (methylfolate) can lead to a folate deficiency. Methylation issues can be behind why folate deficiency occurs, such as when there is an inadequate amount of folate, an increased need in the body for folate, or when the body loses folate faster than usual. No matter the case, folic acid, folate, or methylfolate issues can leave patients with feelings of fatigue, irritability, sleep issues, anxiety, brain fog, and aches and pains. These side effects can be greater for some, leading to a diagnosis of fibromyalgia, an autoimmune disease, or anemia. Symptoms can be worsened by excessive alcohol consumption, kidney problems, and certain medications.
Genetic Testing for Methylation & Folate Deficiency
Methylfolate (5MTHF) contributes to the creation of neurotransmitters and immune cells, processing of hormones, production of energy, and detoxing chemicals and toxins. Since the methylation cycle interacts with over 200 processes in the body, itís important in find out where your methylation issues lie to understand the root of the problem. That way, you can determine the best course of action to better health rather than trying to solve a slew of side effects. Genetic testing for methylation can help doctors and their patients better understand where in the methylation cycle an issue may be occurring because of genetic variants.
If folate deficiency is determined as the cause, or aggravating factor, of your methylation issues, a folate-rich diet may be enough to get you back on course. Vegetables like romaine lettuce, spinach, cauliflower, broccoli, beets, and lentils are great sources of natural folate. Additionally, be aware not to overcook your food, which can destroy the vitamins and nutrients, diminishing the nutritional value.
For women trying to get pregnant and those struggling with more complex or severe issues in the methylation cycle, an orally supplement of active folate like Methyl Folate Plus may be needed.
Now Available! Dr. Stewart's 5 segment workshop series "Methylation, Mutations & Beyond the MTHFR".
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Statement from Dr. Stewart: Many abnormalities (high folic acid in blood serum, low or high homocysteine, MTHFR mutation / heterozygous or homozygous) can point to a methylation deficiency. I find that many of my patients will respond better if you ease into the methylation protocol. Suggested use is begin with the Methylation Complete Sublingual OR Neuro-Immune Stabilizer Cream for about 2 weeks by itself and then add the Methyl Folate Plus if you feel it is necessary or with a homozygous result or heterozygous compound polymorphism result.