What is the MTHFR Gene? 

MTHFR stands for methylenetetrahydrofolate reductase.

MTHFR is an enzyme that converts the folate you eat into the active form of folate 5-Methylenetetrahydrofolate (5-MTHF).

You can see from the pathway below that the folate you eat (DHF – dihydrofolate) has to be converted via many steps to the active folate 5-MTHF.

The MTHFR enzyme affects this at the last step. So if you have a mutation in the gene then it is going to be affecting how much active folate you have available.

Our main concern is to treat people who have a gene mutation disorder that disrupts this function.

WHAT IS  FOLATE?

WHAT IS THE MTHFR GENE?

THE METHYLATION CYCLE

CURRENT MTHFR TESTING