MTHFD1 & one-carbon metabolism

Understand the connection

MTHFD1 helps interconvert forms of folate used in one-carbon metabolism. These reactions support DNA building blocks and the pathways that move methyl groups through the body.

Follow the pathway

Dr. Purser discusses rs2236225 and rs1076991, folate forms, homocysteine remethylation, and the relationship between folate demand and choline. Choline can also support the betaine/BHMT route and phosphatidylcholine production.

Bring these questions to your visit

Ask whether folate, B12, homocysteine, choline intake, and liver findings help put the genetic result in context. Two identical alleles do not alone prove a deficiency or mean that liver disease will occur.