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MTHFR enzyme

Nov 13, 2010 - 7 comments

There is growing evidence that homocysteine is associated with a number of diseases and
that levels increase with aging. Even moderate homocysteine levels are associated with birth defects (neural tube defects), increased heart attack and stroke rates, higher cancer rates and higher risk of developing Alzheimer’s, Parkinson’s and ALS. In most people, high homocysteine levels go hand-in-hand with deficiencies in combinations of vitamin B-6, folate, and vitamin B-12. Large doses of these vitamins are often required to return the homocysteine to safe levels.
The functional form of B-12 is methylcobalamine. Most cheaper brands are made
from cyanocobalamin, which can be useless in a number of people, especially those with chronic illnesses. The dose is 1,000 micrograms to be taken three times a day, with or without food.
The dose for folate is 800 to 1,000 micrograms a day, with or without food. This combination is a powerful weapon in preventing cancer, especially
those of the colon, breast, and prostate.

A defect in a gene responsible for producing an enzyme, known as methylenetetrahydrofolate reductase (MTHFR). two alterations in the MTHFR enzyme.  a special form of vitamin B12 injections — methyl-B12.
The enzyme defect tells us that the body is unable to convert vitamin B12 to the activated form of B12, which is methyl-B12. the methylated form of the vitamin B12.use the shots
daily for 30 days.
MTHFR is an enzyme in our body that is responsible for folic acid and homocysteine metabolism. Folic acid is a B vitamin and homocysteine is a compound naturally
produced in the body. This enzyme helps the body activate folic acid and break down homocysteine. Problems with the enzyme cause a myriad of other issues, including
autoimmune disorders, cancer, and heart disease. Everyone should have their levels checked at least once.
the importance of folic acid. Folic acid is part of the B-vitamin family and is known as vitamin B9. It is necessary for the production and maintenance of new cells.1 Folic acid is needed, too, for DNA synthesis, as well as red blood cell production and function. Inadequate folic acid intake has been shown to cause anemia, heart disease, stroke, and various cancers, including colorectal, cervical, esophagus, stomach, ovarian, and breast cancer.
Deficiencies of folic acid in a pregnant woman can be disastrous. It can lead to malformations of the baby’s spine (spina bifida) as well as skull, brain, and neural tube
defects. Most Americans do not ingest adequate amounts of folic acid.
The importance of adequate folic acid intake has been recognized by the U.S. government. Flour is now fortified with folic acid. In addition, the FDA has mandated that breads, cereals, corn meals, and other grain products contain additional amounts of folic acid.
The main thrust of the additional folic acid in food products is to prevent neural tube birth defects in newborns. The good news is that the additional dietary folic acid has resulted in a 25 percent decline in neural tube defects in the United States. However, it is thought
that most people in the country still consume inadequate amounts of folic acid.
Homocysteine, meanwhile, is an amino acid produced in the body from another amino
acid, methionine. Research has shown that elevated homocysteine levels are associated
with an increased risk of many health issues, including heart disease, stroke, peripheral
vascular disease, Alzheimer’s disease, dementia, inflammatory bowel disease, aneurysm, kidney disease, and erectile dysfunction.
Research has shown that for every 10 percent rise in homocysteine, there is a corresponding rise in the development of heart disease.4 Homocysteine may cause
atherosclerosis, commonly known as hardening of the arteries, by a variety of means, among them by oxidizing LDL cholesterol; by inducing injury to arterial endothelial
cells, which form a thin layer on the interior surface of blood vessels; by decreasing the amount your body can use of endothelium-derived nitric oxide (important to blood
flow); and disruption of the clotting system.
Although there is some controversy around the idea that elevated homocysteine causes atherosclerosis, there also is a 25-year history of research pointing toward the
relationship between elevated homocysteine levels and the development of cardiovascular problems. You should have your homocysteine levels checked at least once a year.

Other reasons why there would be problems trying to lower homocysteine levels.
That is where the enzyme, MTHFR, comes into the story. MTHFR helps the body metabolize homocysteine. It does this by converting folic acid to its activated form, methyl folic acid (5-methyl-tetrahydrofolate).
This conversion activates folic acid and allows it to be used to help metabolize homocysteine to the amino acid methionine. Without this enzyme, folic acid cannot be
converted to its activated, methylated form and, therefore, homocysteine cannot be metabolized to methionine. The end result is that homocysteine levels may rise and start to cause atherosclerosis and oxidative stress, as well as other problems
MTHFR also is the central point in the methylation pathway. That is where a specific chemical subgroup  methyl (CH3) is added to various vitamins and
compounds such as folic acid, vitamin B12 and others. The shuttling of the methyl groups is important as it helps the body produce energy, maintains in optimal condition
your immune, neurological, and hormonal systems, and protects your DNA from damage.
The methylation process occurs in every cell in the body. To achieve your best health, it is important to ensure the optimal functioning of the methylation system.
One in Five Has This Dangerous Problem
A simple blood (or salivary) test can ascertain whether you have an altered form of the MTHFR enzyme. Medical research has shown that abnormalities in the enzyme can
result in elevated homocysteine levels and an increase in heart attacks, stroke, neural tube defects, and psychiatric diseases, including depression and schizophrenia, as well as cancer. As many as one in five people have been reported to have a variation in the MTHFR enzyme. this enzyme defect in my
office for approximately one year.  such problems are common. Many of these non-responders. For example, these are the patients who have low vitamin B12 levels yet
do not respond positively to vitamin B12 shots. Most patients (around 80 percent) feel significantly better with vitamin B12 shots. Yet, approximately 20 percent of patients with low B12 levels (less than 450 picograms per milliliter, pg/ml) report no change in
their status with B12 shots. These are the patients in whom MTHFR problems are more prevalent.
Experience has shown that more than half of these individuals have alterations in this key enzyme.
So, what is the solution? First, check for MTHFR abnormalities. The test can be done by most local labs.
Iverson Genetics Diagnostics ( offers the test for a very reasonable price. If you have a variant form of the enzyme, there are a couple of important
things you can do.
First, problems with this important enzyme can be passed from parents to children. It is important to check family members of positive individuals. If you are positive, it is important to take the correct supplements to help your
body overcome this blockage. Taking the correct forms of folic acid and vitamin B12 are crucial to treating this condition. These forms of B vitamins bypass the defect in
the enzyme’s pathway and provide the raw materials for the  metabolic machinery to function optimally.
Instead of taking regular folic acid, you want to take the methylated version (activated) of folic acid — methyl folic acid. The same holds true with vitamin B12 — take methyl
B12. A few other key nutrients can also help this process, including choline, riboflavin (vitamin B2), and dimethyl glycine (DMG). A formulated  product, DMG Complete, that contains these ingredients in the amounts necessary to help optimize the metabolic
capabilities of those with MTHFR problems. You can order
this product by calling (877) 898-PURE (7873).
Defects are very common.  supplying the correct form of B vitamins and other nutrients can help the body bypass the inherited genetic defects that can be present. It is important to have your blood screened for MTHFR alterations and to take the correct supplement if
you have a problem.

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172023 tn?1334675884
by peekawho, Nov 13, 2010
Can you reference where this came from?  Thanks!

1236893 tn?1487770007
by gymdandee, Nov 13, 2010
Dr. Russell Blaylock  He is a nationally recognized board-certified neurosurgeon, health practitioner, author and lecturer.
He attended the Louisiana State University School of Medicine in New Orleans and completed his internship and
neurosurgical residency at the Medical University of South Carolina in Charleston, S.C.
For the past 26 years, he has practiced neurosurgery in addition to having a nutritional practice.
He recently retired from his neurosurgical duties to devote his full attention to nutritional studies and research.
Dr. Blaylock has authored three books on nutrition and wellness, including Excitotoxins: The Taste That Kills, Health
and Nutrition Secrets That Can Save Your Life and his most recent work, Natural Strategies for The Cancer Patient. An indemand
guest for radio and television programs, he lectures extensively to both lay and professional medical audiences
on a variety of nutrition-related subjects.
Dr. Blaylock is a member of the international board of the World Natural Health Organization. He is the 2004
recipient of the Integrity in Science Award granted by the Weston A. Price Foundation.
Dr. Blaylock serves on the editorial staff of the Journal of the American Nutraceutical Association and is the
associate editor of the Journal of American Physicians and Surgeons, official publication of the Association of American
Physicians and Surgeons.
He previously served as Clinical Assistant Professor of Neurosurgery at the University of Mississippi Medical Center
in Jackson, Miss., and is currently a visiting professor of biology at the Belhaven College, also in Jackson.

David Brownstein, M.D., is a boardcertified family physician and one of the foremost practitioners of holistic medicine.
Dr. Brownstein has lectured internationally to physicians and others about his success with natural hormones and nutritional therapies in his practice. His books include Drugs That Don’t Work and Natural Therapies That Do!; Iodine: Why You Need It, Why You Can’t Live Without It; Salt Your Way To Health; The Miracle of Natural Hormones; Overcoming Arthritis, Overcoming Thyroid Disorders; The Guide to a Gluten-Free Diet; The Guide to Healthy Eating; and The Guide to a Dairy-Free Diet. He is the medical director of the Center for Holistic Medicine in West Bloomfield, Mich.

172023 tn?1334675884
by peekawho, Nov 13, 2010
Thanks.  I enjoy seeing where an article came from.

1236893 tn?1487770007
by gymdandee, Nov 13, 2010
Not a problem! I just forget sometimes to add the reference Actuarially not sometimes but most times :>)

Avatar universal
by lindaweino, Nov 14, 2010
Thanks gymdandee love both Blaylock and Brownstein.

This study (see below) is getting close to the truth, we were tested for MTHFR over 5 years ago due to my youngest son's   autism (mercury poisoning.)

My husband) and I are both homozygous for MTHFR C677T, so all of our children also have 2 C677T.  The reduced MTHFR function causes the inability of the body to convert homo cysteine to the methionine synthase pathway for the end result of our bodies manufacturing glutathione.  Since we have 2 snips our bodies can not process the metals, and you add mercury and aluminum via vaccinations ( both neuro toxins your resut is heavy metal poisoning that has the same symptoms as autism.  Of course this goes hand in hand with the addition of the Hep B shot and HIB shot added to the pediatric vaccine schedule in 1991 increasing the amount of thimerosal exposure in the first 18 months of life by 300%. All 3 of my sons and I have all been diagnosed with Mercury poisoning via an urinary porphyrin profile  ( hubby did not take the test).  My youngest son's mercury was the highest by 3 fold.  We must emand the test for MTHFR at birth, like we test for PKU, than we could identify those who can not process metals and should not receive any vaccines.

This message contains search results from the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM). Do not reply directly to this message
Sent on: Fri Nov 12 14:05:17 2010
1 selected item: 21069446

PubMed Results
Item 1 of 1

1. J Autism Dev Disord. 2010 Nov 12. [Epub ahead of print]
Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families.
Liu X, Solehdin F, Cohen IL, Gonzalez MG, Jenkins EC, Lewis ME, Holden JJ.
Department of Psychiatry & Physiology, Queen's University, Autism Research Program, Ongwanada Resource Centre, 191 Portsmouth Avenue, Kingston, ON, K7M 8A6, Canada.
Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case-control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families.
PMID: 21069446 [PubMed - as supplied by publisher]

1236893 tn?1487770007
by gymdandee, Nov 14, 2010
lindaweino, Thank You for your information

172023 tn?1334675884
by peekawho, Sep 05, 2013
Interesting that I just found out I am homozygous for C677t.  Just stumbled across this old blog entry.   I don't remember commenting on it, but evidently I did!

Just had a bunch of labs done, awaiting results, particularly of my homocysteine level.

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