Folate is a general term used to describe all forms of vitamin B9. It is found naturally in foods such as leafy greens, legumes, and citrus fruits.

Folic acid is the synthetic form of folate that is found in supplements and fortified foods. Folic acid is the preferred form to fortify foods because it is more stable to heat and light than natural folate. As a result, it does not break down in baked goods. There is significant evidence that supplementation with folic acid effectively prevents neural tube defects, which are defects of the brain and spine that form early in pregnancy. 

Although folic acid is stable and has been shown to be effective in clinical studies, it may not be the best form of vitamin B9 for you. Genetic variants may have an impact on how well some women convert the synthetic folic acid into the methyl folate that is used by their bodies for important processes including DNA formation and Phosphatidylcholine synthesis.

Folate compounds are important to support a healthy pregnancy and are important for supporting the formation of DNA and RNA.

Folic acid supplementation is recommended by the CDC for all women of childbearing age to prevent neural tube defects in their fetuses.

The folate metabolism pathway has several genes that regulate if women can metabolize folic acid and how well folate is utilized in its various functions.  

The folate cycle is one of the metabolic pathways evaluated by The Genate Test.  

The Genate Test can help women and their healthcare providers learn if they have mutations that affect folic acid and folate metabolism and make important dietary decisions.  

Folate is integral to a number of metabolic pathways within the body. It belongs to a group of important cofactors necessary for cellular one carbon reactions. Primarily, it assists in the formation of both DNA and RNA as well as playing a significant role in methylation and protein metabolism. Its relevance is especially seen during pregnancy; research has pointed to the importance of folate and choline in the prevention of neural tube defects. The most critical time to get adequate amounts of folate is the early weeks of gestation, but its importance does not end there. Folate still supplies the essential ingredients for constructing DNA for the fetus during its growth.

The Centers for Disease Control and Prevention (CDC) recommends that all women of reproductive age consume 400 micrograms of folic acid on a daily basis, since neural tube defects can develop within three to four weeks after conception, when many pregnancies are unplanned and yet to be discovered. However, knowing how effectively one metabolizes folic acid is especially important for those planning to conceive, as research has revealed a significant prevalence of genetic mutations associated with the genes responsible for transforming folic acid into the forms of folate the body requires. 

Gene mutations are SNPs (single nucleotide polymorphisms) that are inherited from our parents. The functional SNPs in the folate cycle including MTHFR and MTHD1 are therefore a part of your genetic makeup. Mutations in these pathways can have lifelong effects as well as effect the availability of nutrition your developing fetus requires. Knowing if you have variants in the folate cycle and other related one carbon pathways can help you address these concerns with changes to your diet and your vitamins and supplements.   

There are several genes that regulate the metabolism of folate within the folate cycle. Every person has two copies of each gene, one from each parent. The MTHFR and MTHD1 genes give instructions for transforming folate into methyltetrahydrofolate and other forms usable by the body. When one or both of copies of these genes has a mutation, less usable folate passes to your growing fetus to prevent neural tube defects and build DNA. 

Up to 60% of women have a mutation in one of these genes and approximately 25% of women have a heterozygous mutation (in both of genes). A potential consequence of an MTHFR mutation is an accumulation of homocysteine. When combined with low folate levels, this can lead to miscarriage, preeclampsia, and congenital disabilities of the brain and spine.

The CDC states that people with most MTHFR mutations absorb sufficient folic acid to prevent neural tube defects in their babies. However, some studies show that supplementation with methyl folate is preferred for those with the MTHFR mutation. Additionally, there are several functional genes in the Folate pathway including MTHD1. A person with multiple SNPs in each of these genes may want to supplement their diets with higher levels of natural folate or choose supplements that include MTHfolate. This form of folate is also readily absorbed and is an acceptable replacement for folic acid.  

Using a prenatal genetic nutrition test, can help expectant mothers understand how their diet and genetics impact their developing baby. Testing for an MTHFR mutation can be accomplished with a simple nutri-genetic screening test that can be done at home or in a health providers office. The Genate Test focuses on five metabolic pathways including the folate cycle, methylation, fatty acid metabolism as well as choline synthesis and metabolism.

The Test algorithm evaluates 317 genetic variants to determine how your unique genetic profile can affect the metabolism of nutrients essential for fetal growth and cognitive development. The test results and nutrigenetic counseling, can help you make decisions regarding the form of folate that is appropriate for your unique genetic signature. This comprehensive test can also help you understand how your body metabolizes omega-3 DHA, choline, betaine, b12. Additionally, the test reports on genes affecting vitamin A, C, D, B2, B6 and calcium.  

References

Folic Acid. (2022, December 20). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/folicacid/index.html

Liberto, R., RN. (2018, February 16). Can You Have a Successful Pregnancy with MTHFR? Healthline. https://www.healthline.com/health/pregnancy/mthfr#4

Obeid, R., Holzgreve, W., & Pietrzik, K. (2013). Is 5-methyltetrahydrofolate an alternative to folic acid to prevent neural tube defects? Journal of Perinatal Medicine, 41(5). https://doi.org/10.1515/jpm-2012-0256

Miller AL. The methylation, neurotransmitter, and antioxidant connections between folate and depression. Altern Med Rev. 2008;13:216–226.

Scaglione, F., & Gf, P. (2014). Folate, folic acid, and 5-methyltetrahydrofolate are not the same thing. Xenobiotica, 44(5), 480–488. https://doi.org/10.3109/00498254.2013.845705

, M. A. (2019). Choline: Exploring the Growing Science on Its Benefits for Moms and Babies. Nutrients, 11(8), 1823. https://doi.org/10.3390/nu11081823