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Considering MTHFR Testing?

If you are considering MTHFR testing, one of the following probably applies to you.

  • You are dealing with a symptom or disease that you have learned may be correlated to MTHFR
  • A family member has a MTHFR variant and you are wondering if it applies to you
  • You have learned about MTHFR from others and you are now curious if MTHFR testing can reveal that you have a gene variant

MTHFR testing provides great insight into many aspects of our health, so knowing your risk can be valuable.

What Will MTHFR testing Tell Me?

Before we can understand exactly what MTHFR testing will tell us, we have to first understand what MTHFR is. MTHFR is an enzyme; therefore it carries out a metabolic, or bodily, process. The full name of MTHFR is methylenetetrahydrofolate reductase. The reductase is the critical part of this name. Simply, it allows for the conversion of inactive forms of folate over to the active form of folate known as 5-MTHF (5-methyltetrahydrofolate). State another way, it reduces, hence the name reductase, inactive folates down to active folate. The inability of this enzyme to function adequately is sometimes thought of as a MTHFR deficiency, but this is not accurate. The enzyme is present, so it is not truly deficient. Rather the enzyme is not able to carry out its function at the highest capacity. It is better stated as an efficient enzyme.

MTHFR testing will provide two pieces of information. The first is your genetic profile. Your genes dictate the activity of MTHFR. With most MTHFR testing, you are concerned about two primary locations within your genes conveniently named 677 and 1298. These two gene locations appear to have the most influence over the activity of MTHFR. MTHFR testing allows you to see the makeup of these two locations and if a variant exists. Variants found on MTHFR testing are also called mutations or SNPs (pronounced “snips”). At each one of these locations you can have 3 outcomes, often referred to as negative (the ideal profile meaning that you are negative for a mutation), heterozygous (one amino acid has been misplaced in the coding), or homozygous (both amino acids have been misplaced in the coding). The location at 677 can have any of these outcomes and the 1298 location can have any of these three outcomes. MTHFR testing can suggest the cumulative impact of mutations from both of these locations.

MTHFR activity - MTHFR Testing

MTHFR activity – MTHFR Testing

This leads to the second point that MTHFR testing can illustrate. If you have a mutation or combination of mutations, the efficiency of your enzyme is going to change. If you have no mutations on your MTHFR testing, you have 100% efficiency of your MTHFR enzyme. However, if you have mutations at 677, the activity of the enzyme decreases. If this is compounded by adding in 1298 mutations, now the enzyme is even less efficient. The more mutations that are present, the less efficient the enzyme and likely the more critical that you know about them so you can compensate for it as needed.

Is MTHFR Testing Worth the Time?

Without question MTHFR testing is worth your time. MTHFR testing provides you with the information about the most critical part of an important process known as methylation. Methylation is important for several processes including replicating new DNA, repairing tissue, keeping some aspects of inflammation under control, detoxification and production of chemicals within the brain. Many steps are involved in methylation, however the one that appears the most critical is at MTHFR. If MTHFR testing concludes that MTHFR mutations are a part of your genes, there is a strong chance that you may not be methylating adequately. This is important because with all of the challenges that our environments present us with in this day and age, the ability to methylate has never been more essential. No methylating could mean the difference between replicating healthy DNA or dysfunctional DNA. It could also be the difference between removing toxins that can damage your health and create inflammation or accumulating them.

How Do I Undergo MTHFR Testing

The process of undergoing MTHFR testing is fairly simple. It can easily be assessed from a blood test or saliva sample. Several companies offer this type of testing now due the importance that has been placed on MTHFR. All of these companies do a good job, however my preference is SpectraCell Labs. Their report is very straightforward and provides clear points as to the effects of MTHFR mutations and while also showing an estimate of what the decline in function of the enzyme is.

What To Do with MTHFR Testing Information

MTHFR testing is best reviewed with a qualified healthcare provider. By its nature, genetic information is complex and outcomes from gene mutations are not generally “black and white”. There tends to be a lot of gray due to the effects of other genes and environmental triggers. In my practice, MTHFR testing is accompanied by nutrient testing and assessment of the environmental triggers that can have direct impact on not just MTHFR, but the whole methylation process. Looking at all of this information together allows for the greatest utilization of the information from MTHFR testing.  Moreover, it also helps prevent the application of the wrong therapy that can sometimes make symptoms worse.

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