If you are struggling with a chronic health condition, you may have this mutation as well.
    
This is amazing … just a short time ago it was thought that your DNA was your destiny. That is, if your father had prostate cancer, you were almost predetermined to have it as well. We now know that this is only partially true. Your DNA does predetermine certain things; like your height, eye and hair color. However, it probably does NOT predetermine disease states. Over the past decade, a new field in genetics has emerged called Epigenetics. This is basically the interaction of the environment with your genes.
     
I like to explain genetic issues to my patients like this: there are 2 types of genetic “problems” that someone can have – I call them “Hard” and “Soft Genetic Lesions.” A Hard Genetic Lesion is a defect that you are born with which causes permanent physical problems due to a lack of or too much genetic material present. Down Syndrome and Cystic Fibrosis are examples of these defective genes with altered DNA Sequences. A Soft Genetic Lesion, on the other hand, is also an inherited modification of DNA function, WITHOUT a change in DNA Sequence. Basically, all of the genetic material is present in the right amounts, but the way the gene functions, is altered.

You see, your DNA isn’t just there to determine your gender and height … it is actively controlling EVERY single cell in your body every second of the day. We all have these minor DNA dysfunctions and would not necessarily know about them unless we ran specific lab testing to find out. It is within these minor alterations called SNPs (or Snips) that our genetic expression is determined. If the genes have no SNPs, they can function normally by making proteins and enzymes that allow for healthy body function. If a SNP is present in a certain gene, the ability of that gene to produce the proteins and enzymes it is supposed to make is reduced. Each gene has two Alleles and you get one from your mother and one from your father.

If one is mutated and you are relying on only one good one to make a particular enzyme, you can see how the reaction will be compromised. It doesn’t cause disease per se, but over time the reduced function of that pathway will cause poor health.

For example, it takes a chemical reaction in your body to create certain necessary substances from building blocks. In this case, A and B are those blocks. But, A and B can’t just stick together to form C, they need an enzyme or protein molecule present to make it happen. That enzyme is created by a gene.

A + B = C

When the gene is functioning properly, it makes 100% of the enzyme, which makes 100% of the product C.

Now, if the gene has a SNP, it can’t make as much C as it normally would.

A + B = 50% of C

The reason I tell you all of this is if YOU have a SNP in genes that function in the methylation pathway, you could end up with the health issues associated with decreased methylation. BUT YOU WOULDN’T KNOW!

One of the most common SNPs we know about happens to be a gene that functions to support methylation. It happens on 2 different versions of a gene called MTHFR; one called C677T and another called A1298C. These genes produce an enzyme called Methylenetetrahydrofolate Reductase, which is involved in converting folic acid from your diet to the bioactive form called 5-MTHF. Folic acid must be converted to be used. Without enough 5-MTHF, your methylation process slows and homocysteine levels could be altered.

This SHOULD mean a lot to anyone who is serious about their long-term health. Understanding these gene reactions and to be able to compensate for the chemical weaknesses they create is the future of health care!

Dr. Mike Gruttadauria specializes in complex chronic conditions and uses functional medicine and functional neurology to help people regain their health. www.NYHealthSolutions.com 631-673-1001. If you have MTHFR or are interested in finding out if you do and what you can do to be as healthy as you can be, call our office to make an appointment.