What Is MTHFR & Why Is It Significant For Your Health?

In recent years, an enormous amount of data regarding genetics and gene mutations have surfaced. Medical literature is filled with current and updated articles exploring the various complexities of the genome. Many people believe that genetic information holds a key to unlocking better treatment options, better predictability for disease processes, as well as better protection from disease.

And while there may be a lot of truth in this, it should be pointed out that your fixed, gene sequence does not necessarily guarantee you a life filled with disease, nor does your fixed gene sequence automatically guarantee you protection from disease and illness. The study of how your genes are expressed, referred to as epigenetics, indicates that the influence of diet, toxicity and environmental factors may be more influential than your fixed gene sequence when it comes to your health.

Nonetheless, inherited gene mutations in your gene sequence certainly may predispose you towards developing certain health issues. Inherited gene mutations are your weaknesses and may increase your vulnerability to certain disease processes, especially when coupled with an epigenetic trigger such as an environmental toxin or a nutrient deficiency.

An MTHFR gene mutation is an example of one type of a genetic mutation. If you have an MTHFR gene mutation, there could be serious health consequences that follow, if this mutation is being expressed.

MTHFR, Homocysteine & Cardiovascular Disease

MTHFR (methylenetetrahydrofolate reductase) is an enzyme encoded by the MTHFR gene. This gene plays a very significant role in the methylation pathways of the body, and as such is essential for the production of certain key, nutrient substrates.

MTHFR is needed for DNA reproduction and is essential for folate metabolism, where the substrate 5, 10 methylenetetrahydrofolate is converted into 5 methylenetetrahydrofolate. If an MTHFR mutation is present, and the mutation is being expressed, a person may become deficient in 5 methylenetetrahydrofolate (5-MTHF).

5-MTHF is a key nutrient substrate. A deficiency in 5-MTHF is significant.

One of the essential roles of MTHFR and 5-MTHF is to aid in the re-conversion of homocysteine into L-methionine. Homocysteine is an oxidized amino acid, one that is derived from L-methionine. In the methylation cycle, homocysteine must convert back into L-methionine. If it does not re-convert effectively, homocysteine levels may remain elevated, predisposing one towards developing cardiovascular disease and cancer.

Mutations in MTHFR, and deficiencies in 5-MTHF may predispose a fetus towards developing neural tube birth defects in utero, such as spina bifida. MTHFR mutations may also be a significant factor in dementia, autism, schizophrenia, colon, breast and rectal cancers.

It is believed that as much as 50% of the population has some type of MTHFR mutation. Some mutations are more serious than others. In the autism research field, Dr. Amy Yasko has not seen an autistic child who did not have one or more MTHFR gene mutations.

The type of MTHFR variation you have may lead to a greater susceptibility to certain diseases. For example, the C677T mutations may predispose one towards cardiovascular disease, peripheral neuropathy, and birth defects. Whereas variations of the A1298T may lead more towards the development of fibromyalgia, schizophrenia, migraines, nerve pain, parkinson's chronic fatigue and dementia.

MTHFR Is One of Many Possible Gene Mutations

There are an array of potential gene mutations. MTHFR is only one gene. It is more important to understand the function of entire groups of genes in biochemical pathways, instead of just knowing if mutations exist to one or two genes.

If you have an MTHFR mutation, it is just as important to know if other mutations exist, especially if you are predisposed towards a chronic disease. Other genes that are significant in the methylation cycles besides MTHFR include: CBS (cystathionine beta synthase), BHMT (betaine homocysteine methyltransferase), MTRR (methionine synthase reductase), SUOX (sulfite oxidase), to name just a few.

Nonetheless, MTHFR gene mutations may be significant, and warrant nutritional intervention. However, it is my firm opinion that evaluation of related genes and their activity be tested in order to make protocols more concise and effective.