Understanding MTHFR genetic mutation
By Beth Ellen DiLuglio, MS, RDN, CCN, LDN
What is MTHFR?
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that activates and regulates
folate metabolism in the body. Specifically MTHFR converts 5,10- methylenetetrahydrofolate into 5-methyltetrahydrofolate (5-MTHF), the active form of folate. 5-MTHF then plays a key role in the single carbon transfer (i.e. methylation) reactions involved in the synthesis of nucleotides for DNA and RNA production; manufacture of S-adenosylmethionine (SAMe); methylation of DNA, proteins, neurotransmitters (NTs), and phospholipids; and remethylation of homocysteine to methionine.1 2