Methylenetetrahydrofolate reductase (MTHFR) is a critical part of the methylation pathway that takes place in every single cell of the human body. This gene acts like a switch to influence biological activities in the body by turning their components off or on.
This is a concept known as epigenetics and is vastly different than the original view that biological inheritance is unchangeable. Modifications to our genetic programming are linked to cancer growth and have received increased attention in recent years.
The Importance of Methylation
Methylation is a critical process that happens trillions of times in each cell every minute. It involves the transfer of methyl groups to amino acids, proteins, enzymes, and DNA in every cell and every tissue in the human body. This is a crucial metabolic process required for living, and includes various reactions which pass along these methyl “on/off” switches.
Tumor suppressor genes can be inactivated, or silenced, by DNA methylation. Ideally, methylation promotes the production of glutathione − an antioxidant powerhouse supportive of all of life’s healing functions.
The following functions are reliant on adequate methylation signaling:
- Detoxification
- Histamine tolerance
- Stress management
- DNA and RNA protection and repair
- Neurotransmitter myelination (nerve protection)
How MTHFR Interacts with Methylation
The MTHFR gene is involved in the metabolism of both folate and one-carbon. One carbon metabolism is required for DNA synthesis and the conversion of homocysteine into S-adenosyl methionine or SAM. SAM is a critical methyl donating component required for successful DNA, RNA, and protein methylation. The folate-metabolizing enzyme known as 5, 10- methylenetetrahydrofolate reductase also plays a role in regulating DNA synthesis and the production of SAM.
MTHFR Gene Mutation Influences Cancer Development
There are major disruptions of MTHFR that can impact the risk of cancer developing. Of the many biological pathways it is involved with, the conversion of homocysteine into methionine can be disrupted when the concentrations of precursor molecules exceed normal. For instance, instead of thymine, uracil may be incorporated at exceedingly high numbers. This repetitive genetic variance increases the risk for DNA damage and further genetic mutation.
As previously mentioned, SAM is necessary for the process of methylation in DNA. When this methionine compound becomes altered in any way, DNA and genetic expression can be modified. For example, when MTHFR decreases in activity, a phenomenon called hypomethylation occurs (from low SAM levels). Without an adequate supplier of methyl groups, this loss burdens the body with the need to prioritize its need for methyl groups based on immediate stressors.
Despite being first recognized in 1983, the role of hypomethylation − in which the need for methyl groups is far greater than what is available − has not been fully addressed until the 21st century. Hypomethylation has since shown to play a direct role in carcinogenic tissue growth and is significantly linked to cancer metastasis. To date, hypomethylation is found in all cancer types, increases with the progression of a tumor, and causes a variety of cancerous activity in different individuals.
Common Polymorphisms and Cancer Risks
Of the dozens of known genes that code for MTHFR, there are two genes most commonly associated with increased cancer risk. These are polymorphisms C677T and A1298C. Both genetic changes are dependent upon each individual’s genetic variations, and their genetic prevalence amongst ethnic groups also varies.
Therefore, the cancer risk associated with each polymorphism is not reliant on genetics alone but rather numerous influences including genetic predisposition and environmental factors.
By definition, a polymorphism is a naturally occurring variation within a gene such as its genetic sequence or chromosome alteration. MTHFR C677T polymorphism is most common and occurs when the amino acid valine is substituted for alanine. This resulting small, yet significant change creates an ineffective MTHFR enzyme with the capacity to function at only 30% of its normal activity level.
The most common cancers associated with a MTHFR C677T and A1298C polymorphism:
Gastric Cancer: Conflicting evidence supports the relationship of C677T polymorphism with the increase in gastric cancer. But data seems to suggest that the change in genetics has a bias towards Asian populations as opposed to Caucasian. Gastric cancer is highly prevalent in Korea and East Asia and there is also a higher percentage of the abnormal allele within the population. In other words, individuals of Asian descent may only be at a greater increased risk for gastric cancer because the C677T polymorphism is more common, but likely there is a risk for anyone with the abnormality.
Breast Cancer: Researchers have found that there is an inverse relationship between folate consumption and breast cancer. Breast cancer risk seems to significantly lower when adequate amounts of folate are consumed in an individual’s diet.
Some studies have even found that the increased risk for breast cancer associated with C677T polymorphism is dependent upon age of menstruation and the bearing of one’s first child. Future studies need to be performed to conclusively determine if one’s risk of breast cancer increases with late onset menarche and childbearing later in a woman’s life. Regardless, of the one million new diagnosis of breast cancer annually, MTHFR has been identified as a precursor to breast cancer.
Prostate and Testicular Cancer: Hypomethylation is associated with increased risk of prostate and testicular cancers, although the risk seems to vary among populations. Both MTHFR’s common polymorphisms, C677T and A1298C, create nutrient disturbances in folate metabolism and vitamin B12 serum levels. This risk may be most significant in the East Asian population.
Other Cancers: Researchers remain uncertain about the risk for other cancers associated with MTHFR gene mutations. However, associations between cancer of the colon, skin, lung, head, and neck as well as childhood leukemia have been linked to MTHFR gene polymorphisms.
What Can You Do to Improve Methylation?
Optimizing the efficiency of your body’s natural methylation pathways is essential to reduce the risk of developing cancer. Detoxifying the body and all of its organs regularly is recommended. Stress management is also key because chronic stress pulls methyl groups from other needed biological functions.
It is also recommended to receive adequate amounts of sleep and live a lifestyle that limits exposure to all environmental pollutants. Supplementing one’s diet with antioxidant rich fruits and vegetables and natural folate sources like dark leafy greens and lentils is beneficial. Inflammatory agents such as sugar, dairy, gluten, and soy (common inflammation-promoting allergy triggers) should be avoided.
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Article Summary
Methylenetetrahydrofolate reductase (MTHFR) is a critical part of the methylation pathway that takes place in every single cell of the human body. This gene acts like a switch to influence biological activities in the body by turning their components off or on.
Methylation is a crucial metabolic process required for living, and includes various reactions which pass along these methyl “on/off” switches.
The following functions are reliant on adequate methylation signaling:
- Detoxification
- Histamine tolerance
- Stress management
- DNA and RNA protection and repair
- Neurotransmitter myelination (nerve protection)
The MTHFR gene is involved in the metabolism of both folate and one-carbon. There are major disruptions of MTHFR that can impact the risk of cancer developing.
Of the dozens of known genes that code for MTHFR, there are two genes most commonly associated with increased cancer risk. These are polymorphisms C677T and A1298C. The cancer risk associated with each polymorphism is not reliant on genetics alone. There are numerous influences including genetic predisposition and environmental factors.
Optimizing the efficiency of your body’s natural methylation pathways is essential to reduce the risk of developing cancer. Things you can do to improve methylation include:
- detoxifying your body and all organs regularly
- stress management
- get adequate sleep
- limit your exposure to toxins
- eat a diet with antioxidant rich fruits and vegetables and natural folate sources like dark leafy greens and lentils
- avoid or at least limit inflammatory foods such as sugar, dairy, gluten, and soy
Great insight..I in Italy along with Professor Pantellini which is know from the 1960’s was at the time speaking and writing about DNA/RNA damage and it’s effect on cancer growth. We used and still using today a simple fixture of bicarbonate of Potassium with pure Vitamin C to control spontaneous cancer mitosis
Detoxifying your liver, colon, kidneys, and lungs are very important. Maybe on can eat a raw vegan diet, fresh fruit, and do juicing and just avoid meat, fish, poultry, eggs, dairy, and desserts in order to try and prevent cancer. Some vitamin supplements might be good at doing it. Doing yoga, meditation, and EFT might reduce stress. I do not know which about genetics. I have never studied it. My sister who did a MSc in Genetics twenty years ago told me that people getting breast cancer, ovarian cancer, prostate cancer, and colon cancer was only 10% genetics. My sister also told me that we are 50% of our mother’s genes and 50% of our father’s genes.
Yes Sylvia, researchers estimate that our quality of life and risk of developing degenerative diseases to be 30% genetics. The other 70% is our bodies ability to adapt to stress and heal. Healthy lifestyle factors play a HUGE role in our ability to adapt to stress and heal.
So is it possible for the damaged MTHFR gene to be repaired and switch back on?
My Doctor gave me Methyl CpG supplement by Ortho Molecular Products. It is supposed to promote DNA repair as well as:
Supports Optimal Methylation and Cardiovascular Health
Supports Healthy Homocysteine Levels
Increases Neurotransmitter Production
Supports Primary Detoxification Pathways
Go see Dr. Ben Lynch……..he may have some answers to your questions.
Cheers and God bless to you and your family…….!
http://mthfr.net/author/drben/
Excellent information, thank you for writing this article!
Testing MTHFR positive on a blood test is very common (6% of the population). It causes lifelong disability, predisposing depression, problems in school and difficulty with managing time and complex projects. Because of the low SAMe it elevates Homocysteine, increasing cardiovacular risks and death. Simply taking a daily supplement of Methyl-Folate is all that is needed to prevent all this. Increasing dietary folate is inadequate, since it is not adequately converted by many patients. Failure to prescribe supplementation in these patients is unethical. Most of my MTHFR positive patients do very well with SAMe supplementation as well (600-1200mg/day), dropping elevated homocysteine, boosting mood and cognitive function immediately. Years of Methyl-Folate and SAMe deficiency can have significant cardiovascular and neurological impacts and must be remediated!
Dr Haskins, Any advice concerning PN in a person with both MTHFR variants? Have you tried a copper supplement for PN in these cases? Dr. Crowne
I Absolutely agree with the statement that MTHFR genes can be changed by treatment with SAMe, and L Methyl Folate! (I am MTHFR Compound heterozygous).
After being diagnosed, I took 1600mgs of SAMe daily for 6 years for depression, arthritis, fibromyalgia, hypothyroid, chronic pain, hypertension, and I took 15 mgs of L-Methylfolate for 4 years.
I went on a gluten free/organic/ non GMO diet. I am now nearly 65. A year ago, I became intolerant of the high doses of SAMe and Methyl folate. I now take only 2 or 3 mgs of Methyl folate a day, along with a bio active B Complex.
Here’s the most important part: I had suffered from treatment resistant depression since childhood, and chronic pain and illness as well for 30 years. I have been depression free, pain free, (lost 60 pounds years ago), I HAVE NEVER BEEN SO HEALTHY!
I had always known that there was something very WRONG with my family. We had lost at least one family member from suicide, and at least one from addiction for the past 5 generations in my family. Within my lifetime, we have lost my grandfather to alcoholism, my grandaughter to an eating disorder, my brother to suicide, and 2 cousins to addiction. My first suicide attempt was at 15. My remaining sibling and I are both recovering alcoholics. My nephew is brain injured from a DUI. Most of my family members have been diagnosed with depression. I had 4 miscarriages, and my cousin had 6.
Cancer has been rampant.. All 6 of my grandmother’s siblings died of cancer! My mother died of gastric cancer, and my 44 year old son has prostate cancer. Right after this son was diagnosed, his brother was tested, and his PSA was also very high.
I can only hope that my family will follow my lead to treat the source of the problem. By treating the source of the problem, I have been given a new lease on life!!
Thank you for sharing your healing journey, Janiece!
estimate that 40% of the population has issues with GSTM1 defunct or absent/ null.. why is no one talking about this.. of the 40% of the population affected a lesser percentage has NO GSTM1. I am one of those.. I think GSTM1 always has MTHFR …
I have a granddaughter with blaus syndrome which apparently means the blau gene has been turned on…possible from over prescribed antibiotics as a baby. She is now 3 and we are trying to find out how to turn this gene off. Does this mthfr deal with all genes or just cancerous ones? I am following all I can about the truth about cancer because i think all diseases apply to whats being told. As this is such a rare disease we have little info on where to turn for help and the doctors are just prescribing more and more scary drugs.
Thanks
Dear Ty: Once again thanks to you and all of your support staff for your tireless work in trying to find alternative treatments for cancer and other illnesses. My take on your philosophy is to take care of your body, especially your liver, and eat only organic food, prepared in a “Kosher” type of way, exercise regularly and keep a positive mental outlook on whatever medical condition you might face. There is one glaring problem, call it the gorilla in the room, and that is It costs extra time, emotion and money to do all of this. Regardless of claims in some areas of the country that it only costs a little more to live “organically”, I find it is about 75% more expensive to find and purchase organic foods and preparations such as those you advertise on this site. For those of us between the ages of 55 and retirement plus, that is not possible for a great percentage of the population of this country in decline. My point and question to you is: why has not some group of people associated with your movement NOT formed a political lobby to confront the powers of the insurance companies who we faithfully send in our premiums to to only be denied coverage for a treatment we may never choose to use. We may be of the mind set that surgery just releases cancer cells, so no surgery. Or no chemo, radiation, treatment with drugs that have been accepted by the FDA without testing for efficacy (big Pharma has their lobbyists hard at work in this area) and so on. WE, the people, need a lobby group to confront our crooked elected officials about their lack of concern for ALL Americans (and those countries we occupy) in their general health and maintenance of their health. We need a choice in insurance coverage to choose a course of treatment that is holistic and organic and that our insurance premiums will pay for through the insurance companies. WE, the people, could make the choice of whether to spend our money at clinics of OUR choosing or go the traditional route of western medicine, should we have the need to do so. But we can’t continue to spend our retirement and/or pay checks at Whole Foods whose corporate structure is VERY conservative while their customers are heavily moderate to liberal in their political decisions and life philosophies. We cannot be expected at an age where our children are starting to get married or going on to higher education, to be able to fork over another $20K a year for medical extras that insurance won’t cover. I have a hard time getting them to send me my medications on time or at all!!! And this happens across the board be it Humana, Aetna, or BC/BS…they all have Very Inefficient delivery systems that are meant to deprive you of prescribed medications and increase their bottom line. NO ONE that I have talked to who has not received their medications has ever received the pills that they went without but whose premium was still paid, never received an adjustment in the premium for lack of delivery of contracted coverage, and have often gone through the same scenario at the very least two times in their time with that insurance company. My point(s) are…(no this is not a rant or ramble) 1) If Bernie Sanders can raise a hundred million dollars through small donations, why can’t there be an effective lobby that can do the same through crowd source funding or the traditional fund raising? 2) Why can’t a group of wealthy concerned citizens such as those that appear on your videos and personal appearances form a consortium to address this problem and form an insurance company that specializes in holistic and alternative therapy coverage, perhaps as well as regular health insurance coverage? 3) Lastly why can not there be a permanent lobby set up to represent the “organic”, grass roots (pun intended), holistic population which is VERY, VERY large??? I would be most interested in your response to my questions and the opinions of those who have given their opinions and thoughts on your TTAC videos about the need for our government to do something to give those afflicted with severe medical conditions the choice to continue on with traditional insurance and medical coverage or choose to switch to the same that has an option for holistic treatments and medical and insurance coverage. Thanks for your time and efforts. Millions of us thank you and all the others but we are the ones you will never see at your TED talks, your conventions nor your video recordings due to our lack of funds to do so. THAT money goes to the HOPE of saving our own lives.
AMEN!
Thank you for you update I have had thyroid cancer both remove three years ti fing a medicartion that wouljg wok the uthervinr orvan Cancer I wanted to know due to my mother who had the same thing she died of ovarian cancer after fighting leukemia cancer she was weak and got the ovarian cancer I guess my question is leukemia who that happen to me
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