Some common mutations explained
MTHFR
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids and is important for a chemical reaction involving folate (vitamin B9) and is necessary to convert homocysteine to methionine. A polymorphism of this gene can lead to decreased production of certain neurotransmitters such as serotonin and catecholamines (dopamine & adrenaline).
An increase in homocysteine levels caused by MTHFR gene polymorphisms has been studied as a possible risk factor for cancer, dementia, Alzeheimer’s, stroke, miscarriages, anxiety, ADHD, chronic fatigue, depression, migraines, neural tube defects, migraines and many other conditions. For this reason it is highly recommended to check your homocysteine level regularly. This can be easily added as part of routine bloodwork.
COMT
The COMT gene provides instructions for making an enzyme called catechol-O-methyltransferase. This enzyme is responsible for breaking down certain neurotransmitters. It is especially important in the prefrontal cortex, which is involved with personality, planning, inhibition, emotion and short term memory. The prefrontal cortex requires neurotransmitters such as dopamine and norepinephrine and COMT helps regulate these. Mutations of this gene can lead to increased risk of depression, anxiety, OCD, ADHD and many other conditions.
CBS
The CBS gene catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine. Mutations are usually an upregulation of the enzyme, meaning it works too fast. Rapid conversion of homocysteine and cystathionine to taurine can lead to high levels of taurine and ammonia. This can lead to sulfur intolerance in some people. It can also lead to low levels of BH4 which helps regulate neurotransmitters and mood. It may help to avoid high doses of sulfur from supplements like taurine, glutathione, lipoic acid and foods like garlic, eggs and cruciferous vegetables.
VDR
The VDR gene provides instructions for making a protein called vitamin D receptor (VDR), which allows the body to respond to vitamin D. This gene supports brain health by increasing dopamine production. Among other health issues, VDR mutations have been associated with the risk of developing Parkinson’s disease due to low dopamine levels.