Modern science is constantly surprising us. Currently, one of the most fascinating puzzles for biologists is the link between genetic expression and health. In 2003, the Human Genome project reached completion—it told us that human DNA contains 25,000 genes.[1] Science is nowhere near understanding the specific functions of all of these, but there is some really good news. We seem to be getting closer to major breakthroughs in understanding how certain genes affect physical health. One particular gene has shown a strong connection to prevalent conditions like depression, bipolar disorder, addiction, dementia and some forms of cancer. This important gene is called MTHFR.

What is MTHFR?

The MTHFR gene has arisen as a significant indicator of health and well-being. Its full name is methylenetetrahydrofolate reductase. The way it works is this: the MTHFR gene produces the MTHFR enzyme, which begins the very important process of methylation. Methylation is a complex chemical process that affects over 200 cellular activities; it happens over a billion times per second in the human body. Methylation supports a functioning immune system, proper breakdown of serotonin, norepinephrine and dopamine, and cell maintenance and repair—all essential functions! When methylation is working well, the body is able to eliminate toxins and heavy metals, thereby reducing risk for cancer and other diseases.


What scientists have found is that when MTHFR is not functioning properly, the MTHFR gene produces a defective MTHFR enzyme, and some of these methylation processes are interrupted or compromised; genetic mutation can cause over- or under-methylation. MTHFR has raced to the front of the pack in significance because scientists have found a strong correlation between a defective MTHFR gene and many different conditions. Conditions linked with a mutated MTHFR enzyme include: [2] [3] [4] [5] dementia, heart disease, anemia, cancer, early strokes, depression, irritable bowel syndrome, miscarriages, migraines, anxiety, bipolar disorder, chronic pain, fibromyalgia and others.

Therefore, the MTHFR gene stands out as demanding attention in scientific study. So far, MTHFR appears not to be well-publicized as a key indicator of health, but if more people know about MTHFR, perhaps more research can be done to better treat these numerous health problems.

MTHFR Mutations

Though there are an estimated 40-50 different types of mutations possible for MTHFR, only two or three significantly affect health. Of these mutations, there are two main ways that a person can inherit a mutated MTHFR gene. If a person gets a defective gene from either their mother or father, they are heterozygous, which means they have a 40-50% chance of reduced activity in the MTHFR enzyme. If a person gets a mutated gene from both parents, they are homozygous and have a 70-90% chance of reduced activity in the MTHFR enzyme. When the MTHFR enzyme malfunctions because of genetic mutation, chances are much greater that a person will inherit conditions like depression, dementia, heart disease, addiction, fibromyalgia, chronic pain and cancer. Knowing whether a MTHFR gene is dysfunctional can help direct treatment.[6]

MTHFR and Treatment

So what does this all mean? Because MTHFR is indicated in so many health problems, it can be useful for people experiencing some of the above conditions to undergo genetic testing to find out whether they have a mutated MTHFR gene. Though defective genes cannot be changed, knowing how MTHFR is genetically expressed can be helpful in prescribing medical care.

When a defect in MTHFR causes over-methylation, the body is not able to break down vitamins and minerals properly, causing buildup in the body. For example, if the body can’t flush out B12 or folate vitamins due to over-methylation, toxins accumulate and this can cause headaches, fatigue and achiness. Having high copper levels and low zinc is another possible consequence of improper methylation, and this combination may cause hyperactivity, depression, acne, frequent colds and more. Another possible consequence of malfunctioning MTHFR is sulfur buildup, which can cause kidney damage. Finally, there is some indication that MTHFR could be linked with autism. For more in-depth information about possible MTHFR dysfunctions, contact a health professional and consider genetic testing for MTHFR.[7]

MTHFR and Genetic Testing

Luckily, there is a simple and cost-effective way to test for MTHFR dysfunction. Though it is wildly expensive to test all 25,000 genes, scientists have narrowed down the most common 20-30 genes to test for. In scientific lingo, defective genes are called single-nucleotide polymorphisms, otherwise known as “snips.” Fortunately, it is generally affordable to test for the most significant “snips,” including MTHFR.[8]


The reason why it is so important to have a basic understanding of MTHFR and genetic expression is that genetic testing could be a hugely helpful tool for understanding and addressing widespread health issues. If we are able to empower ourselves with knowledge, we can better focus treatment toward specific solutions. Contact a professional if you think genetic testing may benefit you!