MTHFR - It's time for everyone to be tested.

Although there is certainly benefit in generalized public health recommendations like: "Exercise, don't smoke, and eat your vegetables", this is not enough if we want optimal health. I liken this approach to playing
a good game of checkers while Mother Nature is playing chess.

The core of the issue is that each individual has a unique genetic make-up. Because of this, we all have metabolic Achilles' heels. Following general health recommendations will result in optimal health and aging for no one. Each person requires an individualized nutrition and lifestyle program tailored to his/her genetics and biochemistry.

It is important to understand that single genes rarely dictate the manifestation of a disease. Genes are blueprints for the biochemicals that make up our structure and determine biological function. Typically, when you inherit a "bad" gene, it results in things like an enzyme that is less efficient or a structural protein that is less resilient. A single "bad" gene does not produce a disease. Despite the title above, there is no single "heart disease", "cancer" or "depression" gene. There are many genes that contribute to these diseases.

Having a single "bad" gene can actually contribute to many different conditions (even in one individual). Combine the one "bad" gene with other genes and certain environmental factors and an unhealthy outcome, labelled as a disease, is the result. What's more, a given "bad" gene is "good" under the right circumstances. For example, the genetic condition, sickle cell anemia actually offers protection against the mosquito-borne parasitic disease called malaria.

Medicine is entering a new era of personalization. Evaluation of the individual's genetics can lead to a powerful individualized health-promotion program. It makes sense to me that MTHFR gene analysis should be the first to garner widespread attention. I first wrote about this gene ten years ago and the studies keep coming. Although every gene is important, MTHFR has widespread influence on health because it plays an important role in the regulation of other genes.

MTHFR is an abbreviation for 5,10-methylenetetrahydrofolate reductase, which is an enzyme that helps produce the active form of the B vitamin folate. Folate (L-5-methyltetrahydrofolate) plays an important role in a critical biochemical function called methylation. Methylation is the transfer of methyl groups (a carbon bound to 3 hydrogen atoms) and occurs about 1 trillion times a day in the human body.

Methylation has many important roles to play. Methyl groups are used to silence genes. Methylation regulates genetic expression: which genes
are turned on or off. To put it simply, methylation can silence genes that ultimately result in a poor health outcome. Cancer cells have been found to be lacking in methylation.

Methylation plays a role in the production and repair of genetic material: DNA and RNA. Methylation plays a role in activating neurotransmitters. It also is involved in formation of the myelin sheath (nerve cell insulation). Therefore, it is not surprising that impaired methylation is associated with all kinds of neurological  and psychiatric disorders.