What is an MTHFR mutation?
MTHFR is an enzyme that helps our body convert folate (a B vitamin found in many foods) into a form that can be used to regulate the levels of homocysteine in our blood. Homocysteine is an amino acid that can be harmful to our health when present in high levels. The MTHFR enzyme also plays a role in the production of an important molecule called SAM, which is needed for many biological processes in our body, including the production of neurotransmitters (chemicals that help our brain function).
Genetic variations in the MTHFR gene can result in altered enzyme activity, leading to lower levels of folate and higher levels of homocysteine in the body. MTHFR testing is a simple test that can identify genetic variations in the MTHFR gene. Individuals with MTHFR gene variations may benefit from personalised treatment strategies to optimise their folate and homocysteine levels. These strategies may include dietary modifications, supplementation with folic acid or other forms of folate, and medications that lower homocysteine levels.