Huge Role Of MTHFR Gene Mutation In Cancer Development

Huge Role Of MTHFR Gene Mutation In Cancer Development


Have you heard about MTHFR gene? What is its role in our bodies? Is it an important aspect of the body? Let’s find out.

Methylenetetrahydrofolate reductase or more known as MTHFR gene is a genetic polymorphism, or what is seen as a genetic variance or flaw in today’s science. One in every two people may have this variance — about half of the population. It is not really dangerous, but it can affect your health. When something affects your health, that is already a big thing.

Why is MRHFR linked to cancer development? What is its role in developing cancer? To know more about it, check out all the information below.

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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Ian Parr
Ian Parr

No disease can survive in alkaline environment

Ian Parr
Ian Parr

We all have super genes its found in a stitch of DNA that normally lies dormant until activated