Wednesday, June 18, 2014

What is the MTHFR Genetic Defect and How Can it Affect You?

What is the MTHFR Genetic Defect and How Can it Affect You?

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What is the MTHFR Genetic Defect and How Can it Affect You?

Posted: 17 Jun 2014 08:00 AM PDT


Conventional science wants us to believe that we are merely a product and victim of our genes, but these “facts” aren't entirely true. While genetics do play a role in the initiation and development of some diseases, our choices determine how (or if) they are expressed. By learning simple lifestyle modifications, you can gain the information you need that will enable you to take control of your genes and your health.

What is the MTHFR Gene?

Also known as methylenetetrahydrofolate reductase, the 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.

Is this genetic “defect” dangerous? Well no, not really; however, any sort of genetic mutation or variance does have the possibility of affecting your health. Knowing what this gene is and how it could affect you is the knowledge you need when seeking to protect your health.

What Does the MTHFR Gene Do?

The MTHFR gene instructs the body to make an enzyme necessary to convert vitamin B9 into a usable form. This enzyme is also important in the process of converting homocysteine into methionine — an amino acid the body needs for growth and metabolism. Methylation, a process involving a methyl group activating an enzyme, is also associated with the MTHFR gene. Proper methylation enables the body to detoxify toxic metals, toxins, and other wastes more efficiently.

Effects on the Human Body

The process of methylation and the conversion of homocysteine to methionine play an important role in protecting both physical and mental health. Methionine is essential for producing glutathione, the body’s primary antioxidant. The liver also converts methionine into SAM-e, a chemical that helps metabolize brain chemicals dopamine, serotonin, and melatonin. Therefore, it is possible that a defect in the MTHFR gene may promote high levels of homocysteine levels in the blood, negatively affecting mental health and mood.

In the case of an MTHFR mutation, an inability to process folate (vitamin B9) can have serious effects. For one, a developing fetus can suffer brain defects like spina bifida or anencephaly if the mother has a severe defect in the gene. Folate deficiency can also result in lethargy, impaired cognitive function, and mood disorders. [1] [2]

Other Health Effects

As mentioned previously, a defect with the MTHFR gene can cause an abnormally high level of homocysteine in the blood. High levels of homocysteine are associated with cardiovascular disease, high blood pressure, glaucoma, ischemic stroke, and atherosclerosis. [3] Research links migraines and mental disorders (schizophrenia, bipolar disorder, and depression) to inadequate methylation resulting from variances of the MTHFR gene. [4] [5]

Some research has also examined the effects of the gene defect on influencing the development of certain cancers. The free radical damage and toxic buildup that results from poor methylation, for example, may contribute to certain cancers. [6] Those with hypothyroidism may experience problems associated with a MTHFR defect, mainly because the thyroid produces hormones needed by the MTHFR gene.


Whether your doctor has determined that you have the MTHFR gene defect or you are experiencing similar symptoms related to the disorder, there are a few steps you can take to protect yourself. First, address any dietary and nutritional deficiencies. Consume a diet with folate-rich foods such as spinach, asparagus, chickpeas, beans, and broccoli. Avoid exposure to environmental toxins which can tax the liver, and perform an occasional liver cleanse to facilitate the removal of toxins and wastes. Methyl folate may be an important supplement to implement in your daily health regime if you are suffering from methylation, so speak to your doctor about possibly adding this to your current supplement plan.

-Dr. Edward F. Group III, DC, ND, DACBN, DCBCN, DABFM


  1. Ramos Ml, Allen LH, Mungas DM, Jagust WJ, Haan MN, Green R, Miller JW. Low folate status is associated with impaired cognitive function and dementia in the Sacramento Area Latino Study on Aging. American Journal of Clinical Nutrition. 2005 December;82(6):1346-52.
  2. Williams E, Stewart-Knox B, McConville C, Bradbury I, Armstrong NC, McNulty H. Folate status and mood: Is there a relationship? Public Health Nutrition. 2008 February;11(2):118-23.
  3. Li P1, Qin C2. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: a meta-analysis. Gene. 2014 Feb 10;535(2):359-64. doi: 10.1016/j.gene.2013.09.066. Epub 2013 Oct 16.
  4. Azimova JE1, Sergeev AV, Korobeynikova LA, Kondratieva NS, Kokaeva ZG, Shaikhaev GO, Skorobogatykh KV, Fokina NM, Tabeeva GR, Klimov EA. Effects of MTHFR gene polymorphism on the clinical and electrophysiological characteristics of migraine. BMC Neurol. 2013 Aug 5;13:103. doi: 10.1186/1471-2377-13-103.
  5. Gilbody S1, Lewis S, Lightfoot T. Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review. Am J Epidemiol. 2007 Jan 1;165(1):1-13.
  6. Prasad VV1, Wilkhoo H. Association of the functional polymorphism C677T in the methylenetetrahydrofolate reductase gene with colorectal, thyroid, breast, ovarian, and cervical cancers. Onkologie. 2011;34(8-9):422-6. doi: 10.1159/000331131.

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