MTHFR-- A Gene, Not A Dirty Word

The MTHFR gene is responsible for producing an enzyme called methylenetetrahydrofolate reductase which is imperative to the process of converting 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate (Genetics Home Reference). This process is the starting link to another multi-step process that converts an amino acid, homocysteine, into another amino acid so that different types of proteins can be made. Proteins are crucial for DNA expression, which is crucial for human growth and development.

What does this mean in less confusing terms? The MTHFR gene is responsible for turning folic acid, the synthetic form of folate, into a more bioavailable form of folate. The ability to turn folic acid into folate is crucial for many things such as neural tube development, the ability to filter toxins and heavy metals, and each cell's ability to absorb crucial nutrients. 

Folate is Vitamin B-6, found naturally occurring in whole foods and meats. Folic acid is the synthetic version of folate that is often added to enriched food products such as enriched white bread, enriched white rice, enriched cereals, and most multivitamin supplements. It is easy to make and put into these products for human consumption. Folate is responsible for developing the neural tube, that is the spinal cord, brain, and spinal vertebrae, in the first trimester of pregnancy. The neural tube is typically fully developed by the 9th or 10th week of pregnancy. Prior to that, it is imperative that the new mother is receiving adequate amounts of folate to develop an infant without neural tube defects.

Neural tube defects include, but are not limited to, spina bifida, tethered spinal cord syndrome, and anencephaly. In all cases of neural tube defects, the nervous system is permanently affected, and the damage is irreversible.

When a person has an MTHFR genetic mutation, either mother or baby, the gene cannot produce the enzyme needed to convert folic acid into folate. In addition to not receiving adequate amounts of folate with this mutation, the folic acid will also block the cell from absorbing other critical nutrients needed for development. Neural tube defects occur more often in people with an MTHFR mutation because of this.

In my case, my son had the MTHFR genetic mutation. I was unaware throughout my entire pregnancy, and as a young single mother, I was taking the most affordable prenatal vitamin during my entire pregnancy. Unfortunately, affordable means synthetic, and my son was not receiving adequate amounts of folate in utero. He was born with a sacral dimple, a dimple in his lower sacrum that is usually indicative of spina bifida. His tailbone was also split into two which meant that his spinal column did not fully fuse closed. After lots of diagnostic imaging and lab work with a pediatric neurosurgeon, it was determined that my son merely had an elongated spinal cord, and a spinal column that had almost fused shut correctly. Fortunately, this did not require surgery, and he is three years old without any issues so far. I will have to take him to re-do the MRI scans in a couple of years to ensure that his spinal cord is growing with his body, and isn't tethered to the spinal column, as it could be if he has tethered spinal cord syndrome.

Around 50% of people carry an MTHFR genetic mutation, and many are completely unaware of it. This means that it is crucial that pregnant mothers are receiving the correct form of folate during pregnancy to avoid neural tube defects. Most healthcare providers are also completely unaware of the significant impact the mutation can have on an unborn life, and what steps are needed to avoid developmental issues. Unfortunately, the MTHFR genetic mutation is also a indicator of many other issues and ailments that extend far beyond development, and doctors are unaware of these issues as well. Fertility issues, behavioral issues, and midline defects are a few other conditions associated with MTHFR mutations.

Do you know your genetic makeup?