Do You Have the Most Common Gene Mutation?
By:
Risa Groux, CN
| Published:
July 11, 2018
At first glance you may think that MTHFR is an abbreviation for a word you would call someone that cuts you off on the freeway rather than the name of one of the most common gene mutations. Methlylene tetrahydrofolate reductase (MTHFR) gene is critical for several mechanics in the body including methylation, enzyme production, and absorption of folate (B9) and vitamin B12. All cells and tissues experience methylation. We need the MTHFR enzyme to convert homocysteine into methionine which we need for cell repair and regeneration. It’s also critical for metabolism and muscle growth, glutathione production, our master antioxidant and powerful detoxifier. It is imperative for generating white and red blood cells. We also need it for controlling inflammation, processing amino acids (protein’s building blocks) and eliminating toxins and heavy metals. Methylation is also responsible for the breakdown of histamine. Without proper methylation, the risk for autoimmunity and thyroid disease increases.
There are 20,000 genes in the human body and while still fairly new on the scene, the MTHFR mutation is very common. It is estimated that 40%-50% of the population has the gene. Currently 98% of autistic children carries the mutation. The many symptoms include extreme fatigue, light headedness, and forgetfulness. Many people with the MTHFR gene mutation do not present with any symptoms which makes it difficult to assess if you have it without testing for it. You can test with a specific blood test or the 23andMe test. The only way to get this mutation is through one or both of your parents. If you have inherited it from one parent you are heterozygous and if both parents passed it down, it’s called homozygous. This is important to know when treating it.
MTHFR is a fairly recent find during the Human Genome Project. Researchers discovered that people with this gene mutation tended to develop certain diseases including Alzheimer’s, heart disease, autoimmune disorders, blood clots, depression, autism, ADHD and certain cancers. It has also been linked to hormone issues, PCOS, infertility, recurring miscarriages and birth defects. Some medications can further deplete low levels of folate so check with your Doctor or pharmacist.
If you have high levels of lead and mercury, infertility or reoccurring miscarriages, fatigue, hypothyroid or Hashimoto’s, autoimmune disease, one of your parents have it, any of the above symptoms, or just want to know… then it is a good idea to get tested.
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