MTHFR Genetic Screen

MTHFR Genetic Testing

Genetic Testing and Genotyping for Methylation

Methylation is a crucial part of cell processes and reduced function has been linked to a plethora of medical conditions. Determining your MTHFR genotype gives you valuable information about your body’s ability to methylate. To methylate, simply put, is the body’s ability to turn something “on” or “off.” It plays a role in activating and deactivating biochemical processes, genes, immune responses, and neurotransmitters. Nutrition plays a substantial role in methylation pathways. You can compensate your body’s genetic inability to methylate effectively since this biological process is dependent on several vitamins.

The B-Vitamins, which are vitally important to fetal development especially in the first few weeks, are most affected by mutations of the MTHFR pathway. Those who have mutations in the MTHFR gene may not be able to adequately metabolize folic acid like that found in most common prenatal vitamin formulations. Because of the inability to convert the synthetic form folic acid to the more active form of methylated folate in the body, folic acid begins to build up in the body and is essentially unable to be utilized. This can lead to can to difficulty achieving pregnancy, unexplained infertility, recurrent miscarriages, neural tube defects, autism in children, pre-eclampsia, Down’s Syndrome and other detrimental outcomes.

What is MTHFR?

  • MTHFR is an enzyme that is responsible for converting inactive folate (5,10 methylenetetrahydrofolate) to active folate (5-methyltetradydrofolate)—it is involved in the metabolism of folate and homocysteine
  • The product of the reaction the is catalyzed by the MTHFR gene helps to convert a potentially toxin amino acid, homocysteine, to methionine (a useful and necessary amino acid)

Why is MTHFR Genotyping Important?

  • Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity
  • Reduced activity can lead to elevated levels of homocysteine (a.k.a. hyperhomocysteinemia), especially when folate levels are low
  • High homocysteine (>13umol/L) may double the risk of developing illness or complications.
  • MTHFR genotyping can provide information about potential causes of elevated homocysteine and approaches for addressing it

Based on MTHFR and homocysteine results, physicians can develop dietary and medical recommendations – increased intake of folate alone or in combination with vitamins B6 and B12 are recommended. Based on results, recommendations for methotrexate dosage can be adjusted

Who Should Be Tested?

  • Those looking to become pregnant
  • Poor energy
  • Difficulty focusing
  • High homocysteine levels
  • Those who have a familial history of cardiovascular disease, stroke or thrombosis
  • Those who are candidates for long-term methotrexate therapy

Another role of methylation is to help enzymes in our bodies to work efficiently. Enzymes are proteins that act like switches for chemical reactions—they initiate very important processes in every cell and tissue. In fact, methylation can turn genes on or off, which can be good or bad for our health, depending on the gene.

Methylation of proteins also helps our body to detoxify. For example, the methylation process can help convert the toxic amino acid homocysteine into a beneficial amino acid, methionine. If your body does not properly methylate and your do not provide the nutrient cofactors to support that cycle, toxins will build up in your bloodstream.

MTHFR-Sample-Report (Click to View)

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