MTHFR As One Piece Of The Puzzle

Breast cancer awareness, new breast cancer treatment. These are in the news almost continuously. Studies are being done on using your genetic footprint to help determine which chemotherapy might be best to treat your breast cancer.

Prevention Isn't Exciting Just Necessary

Now as exciting as these things might be, I think it is way more exciting to know something about prevention. Prevention doesn't get the headlines because cancer that doesn't appear is not news. Without breast cancer, you can just go about your day.

One factor that has been identified as important in breast cancer prevention is MTHFR (AKA NADPH). Several web sites have dedicated themselves to helping you understand this important gene.

MTHFR Gene Problems Contribute to Disease

MTHFR is the abbreviation for methylenetetrhydrofolate reductase. If you are a biochemist, you already have an idea of what that means and if you aren't, this doesn't mean much, right? The short version is that enzymes are biochemicals that help convert one molecule to another, in this case, helps the body convert between different forms of the vitamin folate. This is important as the body needs this reaction to help, among other things, convert homocysteine to methionine. Defects in this enzyme can make this reaction slower resulting in a buildup of homocysteine and other products not so friendly to your physiology like ammonia and can also lead to low BH4 and low nitric oxide.

Homocysteine is an inflammation marker and has also been linked as a primary agent the development of a long list of diseases including breast cancer.

BH4 is a coenzyme. Sufficient here to say that its activity is important in balance of serotonin, dopamine, norepinephrine, epinephrine and nitric oxide.

Nitric oxide is involved in energy production, cardiovascular protection, and genetic expression.

Ammonia is a general cell toxin and leads to disrupted physiology and cell death if chronic. This will affect any organ system.

So a heterozygous or homozygous problem at the MTHFR gene can lead to a less than ideal function of the associated enzyme and that leads to a chain reaction in several pathways. It is the partial disruption of these pathways that leads to alterations in physiology that eventually show up as something we call disease.

We can either wait for the disease state to develop or we can try to understand what is compromised and try to give the body what it needs so the aberrant physiology doesn't develop so quickly or maybe not at all.

Over 4000 studies have been published linking various diseases to the MTHFR gene with breast cancer being one of them. As important as this is, we don't like to hang too much on just one gene. If you look at any biochemical pathway, you quickly get an idea of the complexity. Our favorite approach is to look at a couple of hundred genes which includes the MTHFR gene. The body doesn't just work with one gene to achieve a certain effect and you shouldn't either.

Partial List of Serious Conditions Linked to MTHFR and/or Elevated Homocysteine

Birth defects such as neural tube defects and spina bifida.

Hypertension

Down Syndrome

Methotrexate toxicity

Breast cancer

Deep vein thrombosis

Colon cancer

Nitrous oxide toxicity

Atrial fibrillation

Epilepsy

Infertility

Peripheral artery disease

Migraines

ADHD

Rheumatoid arthritis

Congenital heart disease

Autism

Metformin toxicity

Congenital heart disease

Meningioma

How Not to Address the Problem

I am reminded of efforts to reduce air pollution in China. Much work is being done to get people into electric cars and other low emission vehicles. This is turning out to have a disappointing effect on the actual air quality because pollutants are coming from several sources including a majority of households that still cook with wood burning stoves. Focusing on cars is important but ultimately not going to solve the problem by itself.

Try to Look at the Entire Picture

So it is with MTHFR. We have to look at a wide variety of genes to see what is going wrong with a person's health. This is an exciting time to be a clinician trying to understand basic health issues as we have so many tools that weren't even thought of 50 years ago. Now for less than $200 we can get a pretty good idea of the compendium of genes that are truly helpful in helping you work out a better health plan.

So when you hear about MTHFR and see how excited people are to know about this gene, you can nod your head and acknowledge that you know about it and that this is indeed an important component of health but is probably meaningless without knowing how other complementary genes are doing their jobs too.

Several consumer sites will help you understand how different gene problems are contributing to your disease states. Often steps can be taken to dial these effects back. Most of these will begin with a basic genetic test from 23andme or maybe ancestry.com. As of 2019 our current favorite DNA report was from Nutrahacker. As of this writing (2022), we are researching different analysis systems to see what would be the best approach for the future.