MTHFR an introduction
MTHFR for Beginners
Do you need to look into this further?
What is MTHFR? Why is it important? Could you have the MTHFR gene? Approximately 44% of the population is heterozygous (2 genes one from each parent) and another approximate 12% are homozygous (only one gene) for the MTHFR mutation. The percentages could actually be higher. It really depends where you get your information.
Begin by taking the following quiz. Circle every item that describes you or any member of your family that is a blood relation. Go back as far as you can. Include parents, grandparents, Aunts, Uncles, Great Aunts and Uncles, Cousins, Nephews, Nieces. Circle all that apply and more than once if necessary even if some of them are similar. The more circles you have the more you need to look into this issue. This quiz is meant to open your eyes to MTHFR issues that could be affecting your health.
DIY MTHFR QUIZ
Increased Heavy Metals
Addictions: smoking, drugs, alcohol, food
Chronic Fatigue Syndrome
Irritable Bowel Syndrome
Congenital Heart defects
Deficits in childhood cognitive development
Migraines with aura
low HDL, cholesterol issues
Post-menopausal breast cancer
Type 1 diabetes
Asthma, Shortness of Breath
Hardening of the arteries
Miscarriage or stillbirth
Problems with heavy metal toxicity include
Now are you starting to see how MTHFR might be involved in your health? Most doctors do not routinely test for this gene mutation. This is why it is so important for you to be aware of MTHFR.
Here is a brief overview that describes what it means to have the MTHFR gene mutation. MTHFR stands for the mehylenetetrahydrofolate reductase gene. It is located on chromosome 1 and is responsible for making the MTHFR enzyme. This enzyme is essential for processing amino acids. At this point it is important to understand why amino acids in general are so vital. Amino acids are considered the building blocks that make-up protein. Amino acids make up 75% of the human body and are essential to nearly every bodily function. Every chemical reaction that takes place in your body depends on amino acids and the proteins that they build. In the body, adequate protein intake is vital for virtually everything from healthy muscles, ligaments, tendons, organs, glands, nails, hair, nervous system function and the making of most body fluids. Besides water, protein comprises the largest portion of our body weight. The MTHFR gene converts folate (vitamin B9) into a usable form, which is needed in the reaction to convert the amino acid homocysteine to methionine. Methionine helps with metabolism and ultimately breaks down fat. It can also help with the removal of heavy metals from the body, which ensures that the liver, kidneys, and bladder remain healthy. This amino acid preserves artery function and maintains healthy nails, hair, and skin. Additionally, it is essential for muscle growth and energy. That MTHFR converts folate into a useable form. The useable form is then needed to make dopamine, norepeniphrine, serotonin and glutathione (which is your body’s main detoxifier). Excessive homocysteine can lead to cardiovascular disease and thick blood and is often associated with infertility. Ninety eight percent of autistic children have a MTHFR mutation. MTHFR is not the sole issue with Autism, but it certainly could be a significant contributing factor when one starts to think about the role of toxicity, such as mercury exposure, and the body’s diminished ability to clear toxins with reduced glutathione. This is why any one with an autoimmune disease needs to look at their genetics. If you have this gene you probably have way too much homocysteine in your body. Your diet adds more folate in a form that you cannot break down increasing homocysteine and suddenly the scales are tipped against you. You need to balance the scales to maintain a healthy immune system and fight disease.
There are different mutations of the MTHFR gene. There are 2 we generally identified and tested for. C677T and A1298C. Each one will affect your health differently. Some mutations are minor and some will affect your health immensely. It's possible to have just one gene from one parent (heterozygous), or two genes with a different gene from each parent (compound heterozygous), or two genes one from each parent but the same gene (homozygous). The MTHFR gene mutation has varying degrees of possible implications. The order of potential severity from least to most:
1. A1298C (One A Copy - A1298C Heterozygous)
2. A1298C & A1298C (Two A Copies - A1298C Homozygous)
3. C677T (One C Copy - C677T Heterozygous)
4. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
5. C677T & C677T (Two C Copies - C677T Homozygous)
Fortunately, this mutation, and its subsequent effects, can be bypassed by using a methylated form of folate (L-methylfolate), which readily crosses the blood-brain-barrier. What you cannot make you give the body so it can function properly. This is a simple definition but is not always a simple fix. MTHFR is a complex issues and treatment will depend on your genetic makeup.
Two great people to follow and look up on “youtube” are Dr Ben and Dr Amy Yasko.
This paper is provided for general information only so you can show it and discuss it with your medical practitioner. I acknowledge that I have been advised to discuss this with my medical practitioner.
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By: Candace Ray
Candace Ray, mom, Lyme advocate, healthy living motivator who just wants to have fun and enjoy what life has to offer!