What would you think if you were told that certain mental health issues, cardiovascular problems, and birth defects are all linked to the same genetic predisposition?
Chances are, you’d want some more information.
The predisposition in question is a mutation in the methylenetetrahydrofolate reductase (or MTHFR) gene. To understand how exactly this one gene can go wrong and lead to such a variety of problems, you need to know something about how genes work.
Genes carry DNA, the genetic code that describes who you are and how you’re put together. In other words, DNA is an instruction manual, and genes are the box you find the instructions inside. Imagine you’ve just purchased a brand-new robot butler. He’s very advanced, and will be able to help with many things around the house. But when the package arrives (overnight shipping, of course), you discover a problem —some assembly is required. You dump the box open on the living room floor and a thousand parts spill onto the hardwood —circuit boards, wires, aluminum casing, and lights that are ready to start beeping and flashing. All you need are instructions.
Thankfully, the box includes complex instructions. Put this piece there, attach that wire here, screw this nut onto that bolt, and so on and so forth. Now imagine you connect 95% of the wires and other pieces correctly. Do you think the robot will work properly? What about 98%?
Unfortunately, complex machines can go wrong in an innumerable number of ways, and there’s no machine as complex as the human body. Genetic code works a lot like the instructions to your robot. Genetic code (DNA) from the gene is read by enzymes, who act as workers that carry out the instructions they read. These enzymes build various proteins (as instructed by the DNA) which go on to make up bones, muscles, your brain, and any other tissue in the body. Every characteristic —your eye color, hair color, how your brain works, how your body breaks down substances —is dictated by the instructions in your DNA. These are your genetic predispositions.
But occasionally, there are problems, typos in the genetic code. The instructions are written in-correctly, and the enzymes, oblivious to what they ought to be reading, build the protein incor-rectly. These are genetic mutations, and can result in a host of problems. One particularly nasty set of mutations are those in the MTHFR gene.
The MTHFR gene is tasked with building the methylenetetrahydrofolate reductase enzyme, which goes on to metabolize folate, commonly known as vitamin B9. Folate gets combined with methanol (in a process called methylation) to make methylated folate. This combined substance then converts homocysteine into something called methionine, which then is used to create melatonin, serotonin, and dopamine —neurotransmitters associated with regulating pleasure and mental health. A deficiency in these neurotransmitters puts someone at risk for a host of mental health issues, including (but not limited to) insomnia, prenatal depression, depression, and even bipolar disorder and schizophrenia. In short, if the MTHFR gene mutates and the resulting enzymes don’t properly metabolize folate, it will result in a lack of melatonin, serotonin, and dopamine, and potentially a higher risk for mental health issues.
However, that’s only one potential result. DNA is a complex code, and different mutations in different parts of the DNA lead to different results.
For example, when the MTHFR gene is mutated, there isn’t enough methylated folate to break down all of the homocysteine in the bloodstream, and homocysteine begins to build up. Excess homocysteine has been linked to cardiovascular problems. In other cases, mutations in the MTHFR gene can cause neural tube defects, a set of birth defects that affect the brain and spinal cord. In one neural tube defect, known as anencephaly, the patient is born missing significant pieces of the brain or skull. In another, spina bifida, the spinal cord is missing some protection, and in its exposure undergoes permanent nerve damage.
Thankfully, these mutations don’t guarantee mental health issues, cardiovascular problems, or birth defects, but they do increase the risk. The best thing you can do to fight these is have awareness —if you have these genetic mutations and don’t know, then these issues can hit unexpectedly. On the other hand, if you do know about the mutations you carry, you can take measures to protect yourself. If you know you’re at risk for cardiovascular problems, then you can take extra care of your heart. If you know you’re at risk for mental health issues, then you can pay extra attention to your mood, and get professional help if you need to.
Call 512-328-5200 today to setup an appointment to learn more about MTHFR testing.