The small stuff matters when it comes to optimizing health. One of the small stuff is your genes—specifically the MTHFR gene. At BodyFix Medical in St. George, we get asked about the MTHFR test and methylated B12 all the time. Let’s break it down in a way that’s easy to understand and shows why this matters for you.
What is the MTHFR Gene
The MTHFR gene, or methylenetetrahydrofolate reductase gene, is a big deal for your body’s ability to process folate (vitamin B9) and an amino acid called homocysteine. This gene provides the blueprint for making the MTHFR protein which is needed to convert folate into it’s active form 5-methyltetrahydrofolate (5-MTHF). This conversion is important for many bodily functions including making red blood cells, healthy nerve cells and preventing birth defects. Without a functioning MTHFR gene your body may struggle with these processes and develop various health issues.
What is the MTHFR Gene Test
The MTHFR test is a genetic screening that tests for variations (or mutations) in the Methylenetetrahydrofolate Reductase (MTHFR) gene as part of a bigger genetic panel. This gene produces the enzyme responsible for the methylation process—a biochemical reaction that happens billions of times a day in your body. Methylation is like a master switchboard, controlling everything from DNA repair and gene expression to detoxification and energy production.
The two most common MTHFR variants tested are C677T and A1298C. These variants, also known as MTHFR gene variants, can impair your body’s ability to process folate and homocysteine. If you have one or both of these mutations your MTHFR enzyme may not work as well—meaning your body may not process certain nutrients as well. This is where the test comes in: it tests for these variants and guides personalized health strategies.
MTHFR Genetic Testing
MTHFR genetic testing is a specific genetic test that looks at your MTHFR gene for specific variants or mutations. Done through a blood draw, this test can identify the two most common MTHFR gene variants: C677T and A1298C. These variants can impair your body’s ability to process folate and homocysteine and can lead to high homocysteine levels in your blood. High homocysteine levels is associated with increased risk of heart disease, stroke and blood clots. By knowing these variants, MTHFR genetic testing gives you valuable insight into your genetic risk factors and guides personalized health strategies.
MTHFR Mutations and What They Mean
MTHFR mutations, especially the C677T and A1298C variants can impact your body’s ability to process folate and homocysteine. The C677T variant is the most common and can reduce MTHFR enzyme activity by 30-50%. The A1298C variant also affects enzyme activity but to a lesser extent. If you have two copies of the C677T variant (homozygous) you are at higher risk of health issues related to high homocysteine levels such as cardiovascular problems and neural tube defects. However, having an MTHFR mutation doesn’t guarantee health problems; it just increases the risk, so it’s important to monitor and manage your health proactively.
Methylation, Vitamin B12 and the Amino Acid Called Homocysteine: The Connection
So how does this tie into methylated B12? Vitamin B12 (cobalamin) is a key player in methylation. Your body needs it to convert homocysteine (a potentially toxic amino acid) into methionine, an important building block for proteins and other compounds. But here’s the catch: for this to work smoothly B12 needs to be in a form your body can use.
For most people standard B12 supplements (like cyanocobalamin) work fine—they get converted into an active form through methylation. But if you have an MTHFR variant this conversion can be slow or incomplete because your methylation pathway is impaired. That’s where methylated B12 (methylcobalamin) comes in. It’s already in an active, bioavailable form, bypassing the bottleneck caused by MTHFR variants.
Why It MattersIf your MTHFR enzyme is not working well you may not process regular B12 well which can lead to:
- Elevated Homocysteine Levels: Linked to heart disease, fatigue and neurological issues.
- Low Energy: B12 is important for red blood cell production and energy metabolism.
- Mood Imbalances: Methylation supports neurotransmitter production, like serotonin and dopamine.
- Detox Challenges: Poor methylation can impede your body’s ability to clear toxins.
If your MTHFR enzyme is not working well due to an MTHFR deficiency you may not process regular B12 well which can lead to elevated homocysteine levels.
For someone with an MTHFR mutation taking methylated B12 can make a big difference. It ensures your body gets the active form it needs without relying on a compromised methylation process.
Who Should Get Genetic Testing?
The MTHFR test isn’t for everyone but worth considering if you experience:
- Chronic fatigue or low energy despite a healthy lifestyle.
- Unexplained mood swings or brain fog.
- Family history of cardiovascular issues or neurological conditions.
- Difficulty with standard B12 supplements (e.g., no improvement in energy).
Knowing your genetic variants can give you valuable insight into your health.
At BodyFix Medical we often recommend this test as part of our comprehensive health panels especially for patients exploring hormone therapy, weight management or nutritional optimization. It’s a simple blood or saliva test that gives you powerful insight.
Beyond B12: A Holistic Approach with Folic Acid Supplements
The MTHFR test doesn’t just point to B12—it’s a window into your broader methylation health. If you have a mutation you may also benefit from other methylated nutrients like folate (as methylfolate, not folic acid) and a folic acid supplement to support the same pathway. Pairing this with personalized care—like IV nutritional therapy or tailored supplementation including folic acid supplements—can help you feel your best.
Ordering and Interpreting MTHFR Genetic Test Results
When getting an MTHFR genetic test it’s important to consult with a healthcare professional to determine the best approach. The test will show if you have one or both of the MTHFR variants. A positive result means you have one or both variants, a negative result means you don’t have those specific variants. But a negative result doesn’t mean you can’t have health issues related to high homocysteine levels. Always interpret the results in the context of your medical history, family history and lifestyle to get a full picture of your health and guide appropriate interventions.
BodyFix Difference
At BodyFix Medical we don’t guess—we test. At BodyFix Medical we believe in disease control by guiding our patients to reliable sources of health information and preventative measures. Knowing your MTHFR status allows us to create a plan that’s tailored to you. Whether it’s switching to methylated B12, adjusting your diet or combining therapies we’re here to help you thrive not just survive.
Interested in getting tested or how methylated B12 can benefit your health? Contact us today to book a consultation or testing. Let’s unlock your genes together!