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MTHFR gene expression - Methylated Folate help

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MTHFR gene expression - Methylated Folate help

Post  LuvDinar on Sat Oct 19, 2013 9:43 pm

What is MTHFR anyway?

Methylenetetrahydrofolate Reductase (MTHFR) is a blood test that checks for an inherited genetic variant that researchers call a polymorphism (SNP – pronounced “snip” and stands for “single nucleotide polymorphisms”). Growing research demonstrates that up to half of all Americans may carry at least one genetic variation known as MTHFR. This variation prevents the body, including the brain, from being able to properly use folic acid.

Think of the MTHF as the metabolic super highway in your body that breaks down folic acid properly so the body can use it to help protect and energize every cell. This super highway enables cells to get rid of toxins that could otherwise lead to a multitude of health challenges. If this super highway is disrupted or blocked for any reason (genetic inheritance, toxic overload, medications, chronic stress), the body loses its ability to make bioactive (useable) folic acid.

Research is leading some scientists to believe that the MTHFR “snip” may be linked with an increased risk of childhood leukemia, Down's Syndrome, miscarriage, infertility, dementia, Alzheimer's & Parkinson's disease, migraines, depression, bipolar disorder, schizophrenia, liver & kidney problems, cardiovascular disease, stroke, blood clots, macular degeneration, osteoporosis, thyroid dysfunction, chronic fatigue, IBS and celiac disease. Furthermore, elevated homocysteine has been linked with a dysfunctional MTHF metabolic pathway as well.

Thanks to the Human Genome Project, where it was first discovered that this important gene was so important to your health and well-being AND that it was defective in a lot of folks! By comparing thousands of people’s DNA they noted that people who have defective MTHFR gene expressions seem to have many biological “conditions” or “syndromes” in common, such as: Infertility (or miscarriages), Fibromyalgia, Chronic Fatigue Syndrome, High Homocysteine levels that lead to heart disease and stroke, IBS, Migraines (often beginning in puberty and ongoing through adulthood), to name a few common conditions. Here is a link to see a more complete list:

What is a gene: A gene is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different between people. “Alleles” are forms of the same gene with small differences in their sequence of DNA bases. These small differences contribute to each person’s unique physical features.

Here’s the good news:

You can’t change a defective gene. Medical research suggests that you can help it do its job better and minimize problems.

Some people find their ‘folic acid’ lab test levels are high (it’s one of several folate vitamins) since a defect in the gene prevents your body from using it, so it goes high…unused. The recommended solution is avoid supplements that contain folate that is not the methylated form.

Healthy foods that contain folate should be okay, as would be the active form of folate called methylfolate as a supplement, also called 5-MTHF (5-methyltetrahydrofolate), because by ingesting the methylgroup, you give your body what it needs to convert the folate! It’s like having a problem with the starter of your car, but if you bypass the starter and just connect the wires you get power!

Your serum B12 levels might also be high as well (and when doctors test you because you are complaining of fatigue, they say your B12 is normal or high and scratch their head), so it is best to avoid the synthetic supplemental version of B12 called cyanocobalamin -- and instead take the more useable methylcobalamin (methylB12).

A summary of the Non-Methylation Cycle:

A defective MTHFR enzyme functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity.

• The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is one), which can cause high homocysteine, which can increase your risk of coronary heart disease (arteriosclerotic vascular disease or venous thrombosis), and related heart and BP conditions, as well as increasing your risk for dementia.

• Homocysteine is poorly converted to glutathione, which is your body’s chief antioxidant and detoxifier. You are then more susceptible to stress and toxin buildup.

• Homocysteine is poorly converted to methionine, and less methionine can raise your risk of arteriosclerosis, fatty liver degenerative diseases, anemia, increased inflammation, increased free radical damage.

• You can find yourself with high folate or high B12. i.e. your body will have problems converting inactive forms of folate and B12 to the active (methylated) forms. So the inactive folate or B12 will simply build up in your serum, also inhibiting the active forms. Most serum folate tests are actually measuring folic acid, which needed to be converted to methylfolate to be used metabolically, making them an inaccurate measure of health conditions, to say the least.

• And more broadly, an MTHFR defect can increase your risk of a variety of disorders that may easily be avoided and/or treated.

How can you get tested?

1. You can request the MTHFR, DNA testing from your doctor.

2. You can do this on your own without a doctor’s order with saliva through an organization called 23andme. It is cheaper and still an excellent test. After the 23andme results come back, it will only be a MINOR amount of what you can get about yourself. So on 23andme, get the “Raw Data”. You will end up with MASSIVE amount of text. Then go to Genetic Genie and upload that raw data to get even more mutation information: (the neat thing about 23andme, is that you can get a very satisfactory DNA test AND trace your genetic ancestry all for $99)

3. You can get a doctor to order a complete vitamin profile through Spectracell Labs, that tests your lymph cell’s levels of vitamins (not just blood plasma). Spectracell accepted my husband’s Medicare Insurance: (the added benefit to Spectracell is that you can have your telomeres tested too)

Please note that I am only giving my opinion of this information. I am not a Medical Doctor and I would recommend that you do your own research and if necessary contact your healthcare provider. If there is one thing that I learned in graduate school it is this: Everyone is different and we are constantly changing.



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Re: MTHFR gene expression - Methylated Folate help

Post  Leter on Sun Oct 20, 2013 8:03 am

I was shocked to see this post. The only other place I have encountered someone talking about it was on a pregnancy and infertility chat. I have the mutated gene and found out in pregnancy. I have to take an abundance of folic acid when I am pregnant, which I am now. Thanks for the added info! It is very helpful!


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Location : Florida

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