More than 50% of people are affected by genetic mutations in the methylation pathway. Methylation plays an essential role in many chronic diseases and inflammation which is at the root of every known disease to mankind. By understanding your genetics, you can prevent and address these conditions with the right nutrition and pharmaceutical supplementation guided by our of our Miami doctors. The cool thing is that you test for this once in your lifetime to find out if you have one of the two mutations “C677T and A1289C”. This page will go over what MTHFR is, the methylation process, and why MTHFR Testing is a must in today’s world.
Methylation is a vital metabolic process that happens in every cell and every organ in your body, taking place a million times a second. Life would simply not exist without it. Think of billions of little on/off switches inside your body. These switches control everything from your stress response, how your body makes energy from food to your brain chemistry and the detoxification pathways. That’s methylation.
For those of you who like to understand the geeky ‘mechanics’ behind what happens in our body: Methylation is a biochemical reaction that involves the transfer of a methyl group onto amino acids, proteins, enzymes, and DNA. The addition of a methyl group onto these molecules facilitates biochemical reactions vital to critical functions in our body such as thinking, repairing DNA, turning on and off genes fighting infections, and detoxification, especially in the liver. It is also vital for the proper functioning of the hypothalamic-pituitary-adrenal (HPA) axis and critical for the synthesis of all neurotransmitters and histamine. For example, the enzyme that converts norepinephrine to epinephrine is dependent on methylation for activation. Those are just some of the many reasons for MTHFR testing.
Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme (estimates range from 20%-70% or more). This can make it more difficult to break down and eliminate substances like heavy metals. Individuals with the MTHFR gene mutation have difficulties processing B9 in the form of folic acid. This type of B9 may even cause a build-up in the body leading to toxicity which can raise levels of homocysteine. Elevated homocysteine levels are associated with a higher risk of heart disease, inflammation, birth defects, and difficult pregnancies. In addition, they potentially impair the body’s ability to detoxify. This also affects the conversion to glutathione, which the body needs to remove waste and which is a potent antioxidant. Many factors that can contribute to the expression of the MTHFR mutation include our environment, foods, chemical exposure, and stress.
The reason for the types of mutations is variations in the specific genes passed on from each parent. In other words, if both parents pass on a healthy gene, a person won’t have a mutation at all. If one parent passes on a healthy gene but the other passes on a mutated gene, several variations can occur. If both parents pass on a mutated form, there are many more scenarios that can occur. The two most problematic mutations in the MTHFR gene that can occur are the following single-nucleotide polymorphism (SNP’s) — C677T and A1298C. While a normal MTHFR gene would be C 677C (c= cytosine), a mutation has made the gene C 677T (t= thymine). The letter represents the nucleotide base and the number refers to the location of the mutation on the gene. The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent:
Heterozygous: one parent passed on the C677T mutations or the A1298C mutation but the other parent passed on a normal gene.
Compound Heterozygous: one parent passed on the C677T mutations and the other passed on the A1298C mutation.
Homozygous: the same gene passed on from both parents – can occur if both pass on the C677T mutations or the A1298C mutation.
Below is what each gene (C677T and A1298C) actually affects and why it is a must you test for them if you want to live a long and healthy life.
C677T mutation is tied to cardiovascular problems, elevated homocysteine, stroke, migraines, miscarriages, and neural tube defects
A1298C mutation is tied to higher levels of fibromyalgia, IBS, fatigue, chronic pain, schizophrenia, and mood-related problems.
We made it simple and easy for you! At your convenience, give us a date and time and we’ll have one of our phlebotomists drive to your home or office to have your blood drawn anywhere in Miami, Florida. This test does not require any fasting as well. Once your blood is drawn, you will receive easy-to-read test results within one week. Once you have your results, our doctor will evaluate the results and make a recommendation on how to treat the mutation. If you come out negative then that is a big plus because you don’t ever have to worry about these gene mutation risks. Just remember that more than 50% of the population has one or both of these gene mutations.
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