MTHFR - Genetic Testing
MTHFR stands for methylene tetrahydrofolate reductase. What a mouthful! You can understand why they abbreviate it. But what is MTHFR and why is it important? The suffix ASE at the end on the word reductase tells us MTHFR is an enzyme. Enzymes are chemicals that cause two or more chemicals to react. They greatly speed up chemical reactions. (For more information click here)
The MTHFR gene provides instructions for making the enzyme. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylene tetrahydrofolate reductase is important for a chemical reaction involving the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a form of folate called 5,10-methylenetetrahydrofolate to a different form of folate called 5-methyltetrahydrofolate. This is the primary form of folate found in blood, and is necessary for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Genetic testing can tell if you have a variant of the gene or is yours is normal. Some of the symptoms of having a variant MTHFR gene are:
There are three possible outcomes when testing a specific gene. First, you can be normal. Second, you can be heterozygous. This means you inherited a variant from one of your parents. Third, you can be homozygous. This means you inherited a variant from both parents. Homozygous is more serious than heterozygous.
Specific genes are C677T and A1298C. 30 to 40% of Americans have a variant in C677T. In addition, you can have variants in both genes. If you have had genetic testing for ancestry purposes through Ancestry.com or 23andme.com, we can use this information to see if you have a variant of the MTHFR genes. Certainly, if you have any of the symptoms above that are not responding to treatment it makes sense to see if you have a variant.
Variants of MTHFR cause folate deficiency. Folate supplements are necessary to boost folate levels. However,folic acid is a synthetic form of folate. Folic acid does not metabolize easily and is often not metabolized. In addition, there have been studies showing adverse health effects from folic acid.
Oxalates inhibit folate. Subsequently, if you have had kidney stones, get tested for oxalates.
A variant report measures the following areas of metabolism.
Liver detoxification: Phase 1 & 2
Yeast / Alcohol metabolism
Methylation and methionine / homocysteine pathways (MTHFR)
Neurotransmitter pathways: Dopamine and Serotonin
Glutamate and GABA
Pentose Phosphate pathway
Alzheimer/ Cardio /Lipid
Celiac disease / Gluten intolerance
Other immune factors
Glyoxalate metabolic process
Thiamin / thiamine degradation
Iron uptake and transport