Genetics has generated a giant breakthrough in medical therapeutics.
Genes encode for proteins, specifically enzymes. Genes make enzymes. Enzymes move biochemical pathways along in your body.
If a gene has a mutation in an important location, it can make the activity of the enzyme for which it encodes either increase or decrease. Most often, it is a decrease. This is particularly important in a case like MTHFR which has a critical end product.
A mutation in MTHFR C677T decreases the ability of its enzyme to make an important type of folate, specifically 5 methyltetrahydrofolate (5 MTHF). You need 5 MTHF to make methyl groups. Methyl groups are critical for health and wellbeing.
Methyl groups are part of a critical regulatory system in your body. Without them, you cannot keep DNA that should not be expressing quiet. Your immune system will not function optimally. You cannot silence viruses, and many serious physical problems can manifest, including diabetes, cardiovascular disease, thyroid dysfunction, neurological inflammation, and chronic viral infection. This is no small matter!
One consequence of genetic weaknesses (SNPs) in this pathway is increased risk factors for a number of serious health conditions. Defects in the ability to make methyl groups lay the appropriate groundwork for the further assault of environmental and infectious agents, resulting in a wide range of conditions including diabetes, cardiovascular disease, thyroid dysfunction, neurological inflammation, chronic viral infection, neurotransmitter imbalances, atherosclerosis, cancer, aging, schizophrenia, decreased repair of tissue damage, improper immune function, neural tube defects, Down syndrome, multiple sclerosis, Huntington’s disease, Parkinson’s disease, Alzheimer’s disease, and autism.
Methyl groups are very basic molecules that serve integral functions for body-wide genetic performance. They are moved around in the body to turn on or off genes. They serve as your own personal gene mechanic, so to speak, helping to repair and direct genetic functions in your body. If you think about your body as being a car, then you have just one car that you need to maintain over the course of your entire life. You maintain it with the help of your own personal gene mechanic. The longer you have that car, the more outdated it becomes. Your car’s body will accumulate rust and rot, tires will wear out, and the engine may need an overhaul.
Alternatively, the problems may be simpler, such as the need for more wiper fluid or simply to keep it filled with gas and to change the oil. In any case, your personal gene mechanic ensures that your car keeps running, that it can stay on the road—in this case, on the road to health.
If, however, your gene mechanic is unable to function, all of these issues will start to accumulate. The rust may get so bad that car components fall off, like your muffler. The tires may become so worn that it is impossible to navigate a turn without the fear of blowing one. In the absence of your gene mechanic function, you have no way to repair all of the large and small problems that arise with your car, to the point at which your car may no longer function.
This analogy may show you why the proper functioning of the pathway that makes methyl groups is so important. Methyl groups are critical to the repair and regulation of the function of all the genes in your body, both your own and the genes of other organisms inside you, such as bacterial and viral genes. In addition to the editing of genes, methyl groups also play direct roles in your biochemical function. The addition or removal of a methyl group from another molecule can profoundly change the function of that molecule. Methyl groups are thus critical for your overall health.
If you would like to get my input on your health issue, we can have an Exploratory Conversation. It does not involve filling out lengthy history forms or becoming my patient. I will answer your questions, look at whatever data you want to send, and discuss whatever you like for 30 minutes. The fee for this service is $97. You will not be invoiced, sent a super bill, or sent written information on whatever it is I may tell you to do.
Exploratory Conversations are meant for folks who are not my patients who would like to talk to me to get my input about their condition or treatment. They are phone calls. They are not office visits. The idea is to streamline the communication of information so that effective work can happen in one half hour.
Email me at NancyMullanMD@aol.com. Let me know that you want an Exploratory Conversation and I will send you information about how to schedule one.