MTHFR

Overview

MTHFR (methylenetetrahydrofolate reductase) is an enzyme that plays a crucial role in processing folate (vitamin B9) and homocysteine in the body. This enzyme is essential for a process called methylation, which affects how the body uses folate to make DNA, repair cells, and produce important chemicals for brain function. MTHFR genetic variants are common inherited differences that can reduce the enzyme's efficiency, potentially affecting how well the body processes folate and maintains healthy homocysteine levels. These variants are found in a significant portion of the population and may be associated with elevated homocysteine levels, which could impact cardiovascular health, pregnancy outcomes, and neurological function. However, having MTHFR variants doesn't automatically cause health problems, as many people with these genetic differences remain healthy. Testing for MTHFR variants may be considered when investigating unexplained elevated homocysteine levels, recurrent pregnancy loss, or certain cardiovascular risk factors, though routine screening is not typically recommended for the general population.

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Why We Test MTHFR

Testing the MTHFR biomarker can help identify genetic variations that affect how your body processes folate and vitamin B12, which are crucial for DNA synthesis, methylation processes, and cardiovascular health. Individuals with MTHFR mutations may have elevated homocysteine levels, potentially increasing their risk for heart disease, stroke, and pregnancy complications like neural tube defects. Understanding your MTHFR status can guide personalized supplementation strategies, such as using methylated forms of folate and B vitamins, and help healthcare providers make informed decisions about medication dosing for certain drugs like methotrexate that are affected by folate metabolism.

What Affects It

Factors influencing MTHFR enzyme activity include genetic polymorphisms (particularly C677T and A1298C variants), folate and vitamin B12 deficiency, riboflavin (vitamin B2) status, and dietary folate intake. Alcohol consumption, certain medications (such as methotrexate, anticonvulsants, and oral contraceptives), smoking, and advanced age can reduce MTHFR function. Conditions like hyperhomocysteinemia, cardiovascular disease, neural tube defects, and pregnancy complications are associated with MTHFR variants, while supplementation with methylfolate, B-vitamins, and betaine can help support optimal enzyme function.

How to Improve

For MTHFR gene variants, supporting methylation pathways through adequate intake of folate (preferably methylfolate), vitamin B12 (methylcobalamin), vitamin B6, and riboflavin is essential. Reducing homocysteine levels by avoiding alcohol excess, managing stress, and maintaining regular exercise helps optimize function. For individuals with MTHFR mutations, avoiding synthetic folic acid and choosing whole food sources or methylated B-vitamins is crucial. Regular monitoring of homocysteine, B12, and folate levels, along with consultation with a healthcare provider knowledgeable in nutrigenomics, ensures optimal methylation support and cardiovascular health.

Common Name: MTHFR