Many alternative health websites talk about a supposed link between depression, autism, breast cancer, type 1 diabetes, heart disease, and methylenetetrahydrofolate reductase (MTHFR) variants. The MTHFR gene makes an enzyme that the body needs to process certain substances, like folate, B vitamins, and cholesterol. If a person has one of two common MTHFR gene variants, which are known as C677T and A1298C, it can reduce the enzyme’s function. That can lead to elevated levels of homocysteine, which is a risk factor for cardiovascular disease and inappropriate blood clots (thrombosis).

Homocysteine is created in the breakdown of amino acids from protein foods. It’s also a byproduct of the conversion of methionine to cysteine by the enzyme methionine synthase, which is regulated by the MTHFR gene. High homocysteine can be caused by a deficiency in the vitamins B6, B12, and folate, or a mutation in the MTHFR gene itself that causes a methylation defect. A more common MTHFR variant is the C677T polymorphism, which can cause an alanine to valine substitution at the site of the enzyme’s activation, which lowers MTHFR activity.

Other MTHFR variants can also have a negative impact on methylation. The A1298C polymorphism is associated with decreased activity of the MTHFR gene, which causes a deficiency in folate metabolism and can lead to elevated homocysteine levels.

Research has suggested that these MTHFR variants may increase the risk of some mental health disorders, including anxiety and depression, through changes in neurotransmitter production. However, further studies are needed to understand the relationship and whether pharmacogenetic testing can help identify those at increased risk for depression.

A recent study examined the interaction of COMT Val158Met and MTHFR C677T genotypes and putamen volume in people with psychiatric disorders, such as bipolar II disorder (BP-II). Participants included 170 BP-II and 83 control subjects who underwent clinical evaluation, brain magnetic resonance imaging (MRI), and COMT and MTHFR genotyping. The researchers found that COMT Met/Met and the MTHFR C677T C/C + T/T genotypes were associated with smaller left and right putamen volumes in BP-II patients compared to controls.

The results of this study suggest that MTHFR gene variants may interact with the COMT gene to affect methylation and neurotransmitter production. The MTHFR gene’s function is important for the brain, especially as it helps create active forms of folate and aids in epigenetic regulation of genes. Having low functioning versions of these genes can lead to poor nutrition, depression, anxiety, and other mood disorders. ClarityX’s Mindwell pharmacogenetics test screens for several genes, including MTHFR. The test can help a doctor prescribe the best medications that are safe and effective for you. The test also screens for over 130 mental health medications including depression, ADHD, and more. To learn more about the benefits of this test, visit our website today! You can even schedule a call with our medical team to ask any questions you may have. Our goal is to provide you with a personalized, evidence-based approach to your healthcare!