![]() "Having a genetic variant generates a hypothesis, and then you have to test that hypothesis by looking for biomarkers," he says. As Ferira alluded to earlier and echoed by Rountree, this may cause subsequent elevations in homocysteine.īut just because you have an MTHFR gene variant doesn't necessarily mean you'll experience health issues, emphasizes Rountree. In total, approximately 150 million Americans have an MTHFR gene variation-that's 50% of the population!īecause the MTHFR enzyme is less active with these variants, this can directly contribute to poor conversion to active folate (5-MTHF), which can mean your methylation cycle isn't running efficiently or optimally. have one copy of C677T, which reduces enzyme function by approximately 35%, while 8 to 20% of the population has two copies of C677T (one from each parent), which reduces enzyme function by up to 70%.Īnother variant called A1298C is found in about 7 to 12% of the North American population and carrying two copies may reduce enzyme function by 40%. About 20 to 40% of white and Hispanic individuals in the U.S. ![]() The most common variant in the MTHFR gene is called C677T. This means that MTHFR is less efficient at converting folate and folic acid into the active 5-MTHF form. For MTHFR, there are two common variants or SNPs (changes in the DNA sequence) that affect the enzyme's activity. "Just like there are different alleles for all kinds of genes that contribute to the unique human you are, the same is true for gene variants that impact nutrients and their metabolism," explains Ferira. The MTHFR gene provides instructions for the body to make the MTHFR enzyme. So what's the big deal? Methylation is a foundational biochemical process in the body (i.e., in our cells) that takes place approximately one billion times per second and plays a role in just about everything-from keeping homocysteine levels in check (which is directly relevant to our cardiovascular and neurological health) to manufacturing important compounds like neurotransmitters and the master antioxidant glutathione to influencing gene expression, says functional medicine physician Robert Rountree, M.D.* (Learn more about methylation here.) As it turns out, that's a huge deal for your health."* It can build up, and the rest of the methylation cycle is also slowed or deprived as a result. What does that mean? Ferira shares more: "It means that without adequate methylated folate (5-MTHF) hanging around, homocysteine can't move along efficiently to its next critical step. And as Ashley Jordan Ferira, Ph.D., RDN, mbg's vice president of scientific affairs, explains, "that first step-bioactive folate donating a methyl group to transform homocysteine to methionine-is a rate-limiting step."* Holistically, this process or path is known as the methylation cycle. ![]() Specifically, 5-MTHF donates a methyl group 1 to the amino acid homocysteine to convert it to the amino acid methionine and methionine, in turn, can be activated to form S-adenosylmethionine (SAM-e), which travels around the body donating methyl groups to a variety of acceptors and helping regulate the activity of our cardiovascular, neurological, reproductive, and detox systems in the process.* This activated folate acts as a highly effective and required methyl donor and plays a key role in a biochemical process called methylation-i.e., the transfer of methyl groups (simple structures of one carbon and three hydrogen molecules) to and from different compounds to support overall health.*
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