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Understanding MTHFR as a Genetic Mutation

Updated on July 1, 2019
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Two years ago, I was tested and diagnosed with Compound Heterozygous MTHFR Mutation. Now I know understand how I was always showing signs.

Understanding Genetics

What is a MTHFR Mutation?

Two years ago, as I was struggling with some issues with PCOS and Bipolar 1 disorder, I stumbled across an article about MTHFR mutations and knew I had to learn more. For years, I had been struggling with a multitude of issues and as I began researching, I came to discover that the mutation illustrated presence with many people who had a form of the mutation. Still, I was at a loss about what the term MTHFR mutation meant. As a result, I began delving into trying to uncover what the mutation is, how it occurs, and what it can mean for an individual's health.

Now, I want to help save others the numerous hours I had to spend to uncovering the meaning of the mutation. An MTHFR mutation, as suggested is a genetic change that is a code for the enzyme methylenetetrahydrofolate reductase, which is the reason for the acronym. The damaged enzyme is involved in breaking down the amino acid recognized as homocysteine. The defect in the enzyme in terms contributes to an elevation of homocysteine throughout the body.

It also is an enzyme connected to folic acid and how it can be utilized by the body. The enzyme works to convert homocysteine into methionine, vital for proper metabolization and development of muscles, both which play a vital role in glutathione in creation. When one has any form of MTHFR mutation are have a reduced capability of converting synthetic folic acid (and even folate) into a form the body can utilize.

The gene mutation can also impact the way in which the body can metabolize and convert nutrients from the foods we consume into usable vitamins, minerals, and proteins. This mutation also impacts hormone levels. It is important to note there are individuals who may never be impacted by the issues with the mutation, there are also many who might experience issues in various avenues of their health including, but not limited to, cholesterol levels, brain function, digestion, endocrine functions, and numerous other areas of health.

Understanding the Role of Methylation

Types of MTHFR Mutations

There are numerous versions of the mutation, but the most common to occur are noted as C677T and A1298C, both connected to the placement of the mutation within the gene. There are variations in the combination of the different types of genes, each needing to pass from a/the parent(s) to the children. As a result, we discover:

  • Homozygous - Either the 677 or the 1298 mutation are passed from both parents
  • Heterozygous - One parent has 677 or 1298 and the other parent passed on a normal, non-mutated gene.
  • Compound Heterozygous - One parent passed on the 677 mutation and the other passed on the 1298 mutation.

There are a variety of disputes surrounding an accurate number of individuals who may have any of these forms of mutations are impacting the population. Still, the dispute does not impact the overall lack of knowledge individuals (and most importantly, physicians) have concerning the importance of understanding the possibility of the mutation.

The most commonly agreed upon factor is that despite the possible amount of individuals impacted by any of the mutations, the most common occurrence is how a homozygous or heterozygous version of the singular gene is the most common. The compound is less common, and there are even fewer who might experience compound homozygous.

MTHFR Mutations C677T and A1298C

Impact of a Defective MTHFR Gene

When an individual has any form of the defective MTHFR mutations, the production of the enzyme can be decreased (averaging between 20-70% reduction). An important result of the decreased production also involves difficulty with breaking down and eliminating synthetic folic acid, as well as an inability to break down and remove all forms of heavy metals.

Unable to convert folic acid, the body then begins building up folic acid within the body, resulting in an increase in the levels of homocysteine. The increase in the homocysteine levels, the risk of cardiovascular diseases then increases. Another negative impact is the impact on the conversion of glutathione and as a result, the body becomes unable to remove waste, increasing the possibility of other health issues.

Overall, while there is limited knowledge regarding the overall health impact of the MTHFR mutation, there is a lot of speculation about the possibility of increased risks of cancer, cardiovascular issues, fetal development, autoimmune issues, mental health, and so many other areas.

Understanding MTHFR

The Decision to be Tested

Two years ago, I stumbled upon an article connecting MTHFR to PCOS, and I was curious and began reading the article. Immediately, I was possessed with the desire to discover more information. After about three weeks of studying, I decided I would go to my doctor and request the blood work. My physician asked me numerous questions, but when he discovered I had experienced over 10 miscarriages, he immediately became concerned with why I had not previously been tested.

He approved the testing and I had a three-week wait before the results arrived. The final results revealed I had Compound Heterozygous MTHFR, obtaining one of each mutated genes from my parents. Once I made the discovery, I also had to discover all the various issues I needed to address to ensure I did not continue experiencing issues with the mutation.

I have had to alter my diet, removing all forms of synthetic folic acid and also speaking with all medical professionals to ensure they are knowledgeable about the condition. Then at the recommendation of a physician familiar with the condition, I was placed on Deplin. It took less than six months before there was a noticeable difference in my overall health.

Symptoms of my PCOS began to decrease, the challenges with my Bipolar 1 began improving, difficulties with fibromyalgia, and even my struggles with my weight were no longer an issue! It was a major change. It would also be the realization I have the mutations, I discovered there also had to be some different approaches to surgery.

The changes I have experienced have also guided me to begin trying to help others to explore the possibility that many of their health struggles might also be connected to this mutation. I have also discovered many who I speak with who have begun experiencing some differences since also being tested and confirming they too have a form of the mutation as well. Each of them began also experiencing important changes in their health as well!!!

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2019 Kristie Gentry


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