Understanding MTHFR

Many diseases including depression, heart disease, and Alzheimer’s disease have been linked to faulty methylation. This is a chemical process happening within our cells at a pretty constant rate – about a billion times per second. Poor methylation may be a contributing factor not only in chronic disease, but also in birth defects of the brain and spine that occur early in pregnancies (neural tube defects), which have been traced to folic acid deficiencies.

In order to understand what’s happening in our bodies, we have to take a look at what’s happening in our cells.  A lot of work happens converting food to energy and clearing out toxins within our cells. Methylation is the process of adding a methyl group to a molecule.  When a methyl group is added to DNA, it can change the activity of a DNA segment without changing the sequence.  Methylation helps us clear excess estrogen and histamine, detoxify, and produce energy within cells, not to mention regulate how our genes are expressed.

Our genes have specialized jobs, and they get their marching orders from the DNA in our cells. Not all of our genes are active all of the time, and methylation plays an important role in determining when a specific gene gets to work.

MTHFR (methyl-tetrahydratefolate reductase) genes provide instructions for making the MTHFR enzyme work.  Mutations in the genes effect enzyme production, and, thus, the conversion of folate and folic acid to the active form of 5-methyltetrahydratefolate.  Alterations in the MTHFR genes are common and passed to us from our parents.  While these genetic alterations don’t necessarily make you unwell, they may cause you to have an exaggerated response to a poor diet and lifestyle.

Homocysteine is an amino acid broken down by l-methylfolate that is tested at conventional laboratories.  It is considered an independent risk factor for heart disease, stroke, and other forms of cardiovascular disease.  It is looked at as a risk marker for having an alteration in MTHFR genes.  However, through nutrition and lifestyle, someone who carries alterations in her MTHFR genes may have normal homocsyteine levels.  So, homocysteine is not totally reliable as a screening test for MTHFR alterations.

MTHFR can be tested through a conventional lab or through direct-to-consumer genetic testing called 23 and Me.  There are also functional labs that provide MTHFR testing.

Having a healthy lifestyle is the primary treatment for alterations in MTHFR genes.  This means eating lots of vegetables, decreasing toxins, and sweating.  Nutrient support includes methylfolate and methylcoabalimin (vitamin B12).  With a focus on wellness, even if we carry the gene for Alzheimer’s, there is the potential that supporting methylation could prevent the gene from being activated.  For more information about methylation, go to www.drkarafitzgerald.com/our-clinic/ebook/.


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