MTHFR Gene Problems
Q. What is this and why is it important to me?
A. Every one needs vitamins, that’s clear. However, not only do we need the vitamins, but we also need the “Tool” molecules that turn these vitamins into the many other useful things which our body also needs. Think of the vitamins, along with the carbohydrates, fats and proteins, as raw materials to build the body. Vitamins are proteins. Mostly our body makes all the protein it needs, but there are 20 which we REQUIRE to live, but cannot create. These are known as the 20 essential vitamins. You’ve heard that phrase. These we have to eat. One of these is Vitamin B9, AKA folic acid and AKA folate.
The tool molecules our body makes are created by many genes in our DNA. Sometimes the tools come out as variations on the right way. We have many thousands of these tools. Some variations aren’t as efficient in building the proteins we need or the tools are built the wrong way making them completely useless. The gene we’ll learn about today is the MTHFR gene.
Don’t worry about the length of the words. We’ll knock it down for you. The official name of this gene is “methylenetetrahydrofolate reductase.” The first long word refers to it’s very specific chemical construction. The last 2 syllables “folate” is the vitamin Folic Acid (AKA vitamin B9) which the tool acts on. The last word refers to its action in the body. The tool knocks off one part of the vitamin which activates the vitamin for use in the body. You may see it referred to as turning the “5-10″ version of vitamin B9 into the “5″ version. The 5-10 version is the vitamin that we eat which our body is able to turn into the 5 version which we can use. One more thing you need to know is that our proteins are made up of building blocks called amino acids.
This 5-10 to 5 conversion reaction is just one of many steps required in the multi-step process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Q. How are changes in the MTHFR gene related to health conditions?
When your body doesn’t have the genes to build the right tools to do the right jobs, problems arise. Specifically with the MTHFR gene, some examples are spina bifida. This is a birth defect, where the vertebral bones don’t fully close around the spinal cord, especially in the low back area. This leads to problems as small as having a limp in your walk to being completely wheelchair bound and having complete paralysis of the legs.
Another example of the MTHFR gene making poor tools causing poor building is a condition of anencephaly. This birth defect cause kids who are missing large parts of the brain and have missing or incompletely formed skull bones. Most don’t live long past birth and almost none past childhood.
Other variations in poor tools in the MTHFR gene have also been studied as possible risk factors for a variety of common conditions. These include heart disease, stroke, high blood pressure (hypertension), high blood pressure during pregnancy (preeclampsia), an eye disorder called glaucoma, psychiatric disorders, and certain types of cancer. One variation in the MTHFR gene has also been suggested as a risk factor for cleft lip and palate, a birth defect in which there is a split in the upper lip and an opening in the roof of the mouth. Studies of MTHFR gene variations in people with these disorders have had mixed results, with associations found in some studies but not in others. Therefore, it remains unclear what role changes in the MTHFR gene play in determining the risk of these complex conditions.
Q. What else can happen with badly made homocysteine?
A. When an amino acid (a building block of protein) called methionine is broken down in the body, homocysteine is a chemical in the blood that is produced. We all have some “normal” level of homocysteine in our blood however, elevated homocysteine levels (also called hyperhomocysteinemia) may cause irritation of the blood vessels. Elevated levels of homocysteine show an increased risk for (1) hardening of the arteries (atherosclerosis), which could eventually result in a heart attack and/or stroke, and (2) blood clots in the veins, referred to as venous thrombosis. Neither of these are good things.
Additionally, high homocysteine levels are seen in people with kidney disease, low levels of thyroid hormones, psoriasis, and with the use of certain medications (such as antiepileptic drugs and methotrexate).
About 45 percent of people have this genetic trait, what is referred to as a MTHFR defect. Among other conditions related to that defect are: diabetes, fibromyalgia, chronic fatigue syndrome, addictions, autism, ADD, frequent miscarriages, allergies and chemical sensitivities, anxiety, neuropathy, lyme disease, chronic viral infection and more.
If you are lacking certain vitamins, minerals, Zinc, riboflavin, B12 and some others – your ability to drive the methylation pathway is limited. Why? Because these nutrients are needed to help make the most active form of folate in your body known as methylfolate.
If you are wondering why you have some persistent symptoms we can help you with testing and educate you about proper nutrition, the right supplements and natural detoxification program to help body’s methylation cycle and improve your health.
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