What Is the MTHFR Gene?

Methylenetetrahydrofolate reductase (MTHFR) is a gene in the human body. Mutations or variants of this gene can lead to high levels of the amino acid homocysteine in the blood, as well as low levels of folate and other vitamins. MTHFR variants and the accompanying high levels of homocysteine and low levels of folate may be linked to several health conditions.

Health conditions that may be associated with MTHFR variants include, but are not limited to, the following:

• Chronic pain
• Fatigue
• Cardiovascular disease
• Anxiety
• Depression
• Colon cancer
• Nerve pain
• Migraines

In addition to being related to these health conditions, individuals with MTHFR mutations may not respond to antidepressants or pain medications as well as individuals without the variants. Supplementing with folate may improve the effectiveness of these medications in individuals with MTHFR variants.

Individuals with high levels of homocysteine due to a MTHFR mutation can potentially lower their levels by making lifestyle changes such as quitting smoking, getting enough exercise, and eating a healthy, well-balanced diet.