How does a mutation in the MTHFR A1298C gene impact your body? It is different from the way that MTHFR C677T and MTHFR 03 do. Most people are thinking of MTHFR C677T when they refer to MTHFR, because it is a common MTHFR mutation and it has a major impact. But there are actually three MTHFR mutations that make a significant difference in the way your body functions.
First, a little background… Genes encode for enzymes. The gene and the enzyme for which it encodes have the same name. These enzymes have an impact on your body’s biochemical reactions. They can make the reaction go more quickly, they can make it go more slowly, or they can have no impact.
Not all mutations are characterized yet. We do not know what all of them do, but we are certain that some of them do nothing.
MTHFR C677T and MTHFR 03 work in the same way. Mutations in either of these genes slow down MTHFR enzyme activity. MTHFR 03 generates the more profound slowdown of the two. As a result of either of these mutations, less 5-methylfolate is produced, and fewer homocysteine molecules are converted into methionine to ultimately produce methyl groups.
I have a downloadable, no-cost ebook on my website www.NancyMullanMD.com that explains this process in Chapter 3.
MTHFR A1298C works in an entirely different way from MTHFR C677T or MTHFR 03. It performs a regulatory function. It regulates the amount of SAMe, S-adenosyl methionine that is produced. SAMe is your body’s main methyl group supplier. It is necessary to have not too many and not too few methyl groups. Their production is strictly regulated.
When the cycles are going in a forward direction, SAMe is produced. If the level of SAMe gets too high, it stimulates a regulatory sensor at the MTHFR A1298C position. Triggering this mechanism makes the biochemical reaction go in a different direction, halting the production of SAMe and hence methyl groups. When you have a mutation at A1298C, the sensor is less sensitive to the amount of SAMe in the fluid surrounding the cells, and this regulation does not work as well. You may get an overload of methyl groups and an underproduction of neurotransmitters.
The cycles in this representation of biochemical activity work together like gears. When cycle 4, the methionine cycle, is working in a clockwise direction, cycle 3, the folate cycle, is working in a counterclockwise direction. This makes methionine, SAMe and methyl groups.
When the cycles reverse, cycle 3, the folate cycle, and cycle 2, a representation of neurotransmitter production, interact in important ways to produce neurotransmitters. Dihydrobiopterin (BH2) is made into tetrahydrobiopterin (BH4). BH4 is necessary for the production of both dopamine and serotonin.
So, an MTHFR A1298C mutation can cut down on the production of neurotransmitters by cutting down the production of BH4. Fortunately, BH4 is available as a supplement through Holistic Health International and Emerson Ecologics. It is called Pteredin-4.
The DHPR enzyme is necessary for the conversion of BH2 to BH4. The DHPR enzyme is inhibited by aluminum. So aluminum can cut down significantly on neurotransmitter production. This is one of the many ways that aluminum is damaging to neurological activity.
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Check out my YouTube video:
Fine-Tuning Your Treatment of Chronic Illness with MTHFR Genetics