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Written by: Medical Affairs Team

Length: 4 minute read

Posted:

  • Metabolic Health

Do You Have Genetic Variations Affecting Folate Processing? Understanding MTHFR Testing

Do You Have Genetic Variations Affecting Folate Processing

Laura Lewis, MS

Do You Have Genetic Variations Affecting Folate Processing?

As personal genetic and genomics services proliferate, many individuals are discovering insights into their genetic makeup that can influence their health and wellness. One key area of interest is understanding how genetic variations might affect your ability to process folate, a vital B vitamin. This article will guide you through MTHFR gene testing.

Understanding Folate and Its Importance

Folate, also known as vitamin B9, is essential for DNA synthesis, repair, and methylation, as well as red blood cell formation and the metabolism of homocysteine.* An efficient folate metabolism supports these processes to function properly. Many people, however, have genetic variations that can affect their ability to convert folate into its active form, L-Methylfolate.  

Genetic Variations and Folate Metabolism

One of the most significant genes involved in folate metabolism is the MTHFR (methylenetetrahydrofolate reductase) gene. Variants of this gene can impair the conversion of folic acid into L-Methylfolate, potentially leading to decreases in functional folate. Of 20 known polymorphisms, the most common MTHFR variants are C677T and A1298C. [1] 

  • C677T: Individuals with one copy of the C677T variant (heterozygous) have a moderately reduced enzyme activity, while those with two copies (homozygous) have significantly reduced enzyme activity. [1] 
  • A1298C: This variant also reduces MTHFR enzyme activity, but typically less so than C677T. [1] Having both variants (compound heterozygous) can also impact folate metabolism. 

How to Check Your 23andMe Results

If you have your genetic data from 23andMe, you can check for these MTHFR variants by following these steps: 

  1. Log in to 23andMe: Access your account and navigate to the “Reports” section. 

  1. Browse Reports: Look for reports related to folate metabolism or the MTHFR gene. If this information isn’t directly provided, you might need to download your raw genetic data. 

  1. Analyze Your Raw Data: Use third-party services like Promethease or Genetic Genie to upload your raw data and generate a detailed report on your MTHFR status. 

Interpreting Your Results

Once you have your genetic report, look for the MTHFR gene and note whether you have the C677T or A1298C variants. Sometimes test results require an intermediary to assess the raw date. 

  • No Variants: If you don’t have any of these variants, your folate metabolism should be normal. While standard folic acid supplements might be sufficient for you, L-Methylfolate is the most bioavailable form of folate supplement and will not cause a build-up of unmetabolized folic acid. [2] 

  • One Variant (Heterozygous): If you have one copy of either variant, you may have slightly reduced folate metabolism. Consider discussing with your healthcare practitioner whether you might benefit from L-Methylfolate supplements. 

  • Two Variants (Homozygous or Compound Heterozygous): If you have two copies of a variant or one of each variant, your folate metabolism could be significantly impaired. In this case, supplementing with L-Methylfolate is often recommended to ensure your body gets the active form of folate it needs. 

What Should You Do Next?

What Should You Do Next? 

If your results indicate that you have genetic variations affecting folate processing, here are some steps to consider: 

  1. Consult a Healthcare Practitioner: Discuss your genetic findings with a healthcare practitioner who can interpret the results in the context of your overall health and medical history. 

  1. Consider L-Methylfolate Supplements: Unlike standard folic acid, L-Methylfolate doesn’t need to be converted by the MTHFR enzyme, making it a more effective option for those with MTHFR variants.* 

  1. Monitor Your Health: Keep an eye on your homocysteine levels, as it is a functional marker of folate metabolism and simple blood test. [3 

  1. Adopt a Folate-Rich Diet: Incorporate foods high in natural folate, such as leafy greens, legumes, and citrus fruits, into your diet. Even if you take L-Methylfolate supplements, dietary sources of folate are still beneficial. 

Final Thoughts

If you discover that you have genetic variations like MTHFR that affect folate processing, taking proactive steps such as supplementing with L-Methylfolate and consulting with a healthcare practitioner can help you maintain optimal health. 

Disclaimer:
The information provided is for educational purposes only. Consult your physician or healthcare practitioner if you have specific questions before instituting any changes in your daily lifestyle including changes in diet, exercise, and supplement use.

Laura Lewis is a clinical researcher and science communicator with a Master of Science degree and a background in nutrition science and integrative health. She brings a decade of experience translating complex clinical data into accessible insights for healthcare practitioners and patients alike.

Laura has contributed to educational programming and strategic content development across the integrative and functional medicine space. Her strengths lie in evidence synthesis, practitioner engagement, and crafting communications that bridge the gap between scientific rigor and real-world application. At ARG, Laura supports clinical content development and educational initiatives that elevate practitioner confidence and product credibility.

1. Shaikh AP, et al. WSEAS Trans Biol Biomed. 2024;21:108-17.
2. Ahmad R, Haque M. Adv Hum Biol. 2024;14(1):11-7.
3. Kaye AD, et al. Adv Ther. 2020;37(10):4149-64.

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