Recent studies have pushed our understanding of the human genome and the complexities of our genes. Experts believe that this understanding holds a vital key in predicting disease predispositions and protection from such diseases by unlocking customized treatment solutions.

The fields of Nutrigenetics and Nutrigenomics have opened new vistas for understanding how our immediate environment, specifically the food that we consume, influences our genes and how this insight can be used to mitigate disease risks. Today, we can identify gene mutations, understand and predict health complications as a result and help reduce the risks through targeted dietary and other lifestyle interventions.

The MTHFR Gene
MTHFR (methylene tetrahydrofolate reductase) is an enzyme and is coded by the MTHFR gene. A normal gene codes for a “healthy” enzyme that plays a vital role in converting folic acid into folate. Folate is the form of vitamin B9 that is usable by the body. It also plays a role in the conversion of homocysteine into methionine. Methionine is an amino acid that is required proper metabolism and muscle growth as also for the production of another important amino acid, glutathione. The gene is also crucial for the process of methylation and thus can affect the body’s toxin-eliminating capabilities.

Importance of MTHFR

MTHFR is needed for,

  • DNA reproduction
  • Folate metabolism
  • Methylation pathways,

Mutations in MTHFR
If the MTHFR gene is mutated, it can cause a multitude of health problems. In individuals with an MTHFR mutation, the body’s ability to convert folic acid into folate is reduced, leading to problems of folic acid accumulation as well as folate deficiency.

Low activity of MTHFR can also lead to homocysteinemia, or accumulation of homocysteine, which can lead to inflammation, heart disease, birth defects, difficult pregnancy and a reduced ability to detoxify.

The two MTHFR mutations that seem to cause the majority of problems are C677T and A1298C. Individuals having a defective MTHFR gene show an impaired ability (from 20% to 70%) to produce the MTHFR enzyme.

Associated diseases occurring due to MTHFR mutations
An MTHFR gene mutation may predispose an individual with an array of diseases that include cancers, cardiovascular diseases, fetal development problems, certain autoimmune disorders, fibromyalgia, migraines, nerve pain, glaucoma and psychiatric disorders (like Parkinson’s and dementia), among others.

How to test?
The only way to find out if an individual has an MTHFR gene defect is through a simple genetic test. This test utilizes the individual’s saliva sample (or blood, in some instances) and checks if the MTHFR gene has a mutation or not.

Once the genetic predisposition is known, this information can be used to understand how this mutation will affect the individual’s health and what the person needs to do to overcome the deficiency, if any. Dietary and lifestyle changes along with a nutrient supplementation strategy can help individuals remain a step ahead of their health problems their MTHFR mutation might create.

Remember, prior information is key to successful mitigation of risk.

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