When MTHFR is not the answer

Jen StaggAll Categories, Children, Psych, WellnessLeave a Comment

By Dr. Angela Karvounides

In recent years, the gene, methylenetetrahydrofolate reductase, better known as MTHFR, has well-achieved its 15 minutes of fame in popular media for it’s role in many biological processes and a variety of different medical conditions. Genetic variations of this gene are present in 60% of the U.S. population. MTHFR polymorphisms are associated with increased risk of birth defects, heart disease, stroke, high blood pressure, psychiatric and mood disorders, certain types of cancers and more.

The MTHFR gene provides instructions on how to make an enzyme that is important in converting the B vitamin, folate, to its active form. This process is important in many physiologic funcitons as it ensures production and maintenance of healthy DNA. Some of these include reducing homocystiene, a marker in cardiovascular disease; production of melatonin; and the synthesis of neurotransmitters dopamine, serotonin and catecholamines, norepinephrine and epinephrine.

Utilization of folate can be diminished in alcoholics, liver disease, gastrointestinal dysfunction, pregnancy, nursing and those taking certain drugs.

Symptoms related to deficient states include certain types of anemia, decreased immune function, depression, anxiety, fatigue, confusion, trouble sleeping, and trouble focusing.

But just as communication and working together is important in our personal relationships and many things are not simply black and white or one sided, such is the case with the relationship between MTHFR and COMT. While MTHFR is responsible for the production of neurotransmitters and catecholamines, the COMT or catechol-o-methyltranspherase enzyme is necessary for the break down of these chemical signals.

What does this all mean? COMT polymorphisms are associated with many different conditions including ADHD, autism, PTSD and can be associated with diminished response in L-Dopa therapy in Parkinson’s disease, greater sensitivity to daily stress and greater risk of developing mental disorders in adolescence.

In the presence of a COMT mutation, simply treating for MTHFR mutation is likely to cause adverse side effects such as anxiety and aggression. Also, variations in the COMT polymorphism are associated with higher risk of violence in people diagnosed with schizophrenia, slower processing in certain children, impulsiveness and poor decision-making or more cognitive flexibility and less anxiety in others.

While the information on these genetic variations may be overwhelming or sound grim, there are many treatment strategies that have proven to achieve positive outcomes for conditions associated with MTHFR and COMT polymorphisms. Depending on the type of mutation, minor interventions such as magnesium and regular exercise have been related to marked improvement in symptoms. Additionally, even though testing may not be covered through insurance, taking a full case history and evaluating other lab work  can help to determine whether or not MTHFR and/or COMT might be at the root cause of presenting symptoms.

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