My MTHFR Results
I was positive for two copies of the C677T Mutation. I am having my mom and dad tested to see which one of them passed one of the genes on to me. So what this means is I will be taking two more daily pills for the rest of my life to help my body produce the correct enzyme. As you can see below it is the bad one to have.
As you can see 1.5% – 15% of the population have this genotype. You can have just one mutated gene or none I guess. You may want to ask for the MTHFR blood test next time you get your regular CBC just to make sure. This is a pretty important test that family doctors and specialists seem to forget to mention to us.
*As you can see my bilirubin is a little low also which usually it is elevated with Lyme disease.
The MTHFR nucleotide at position 677 in the gene has two possibilities: C (cytosine) or T (thymine). C at position 677 (leading to an alanine at amino acid 222) is the normal allele. The 677T allele (leading to a valine substitution at amino acid 222) encodes a thermolabile enzyme with reduced activity.
Individual with two copies of 677C (677CC) have the “normal” or “wildtype” genotype. 677TT individuals (homozygous) are said to have mild MTHFR deficiency. 677CT individuals (heterozygotes) are almost the same as normal individuals because the normal MTHFR can make up for the thermolabile MTHFR. About ten percent of the North American population are T-homozygous for this polymorphism. There is ethnic variability in the frequency of the T allele – frequency in Mediterranean/Hispanics is greater than the frequency in Caucasians which, in turn, is greater than in Africans/African-Americans.
The degree of enzyme thermolability (assessed as residual activity after heat inactivation) is much greater in 677TT individuals (18-22%) compared with 677CT (56%) and 677CC (66-67%). Individuals of 677TT are predisposed to mild hyperhomocysteinemia (high blood homocysteine levels), because they have less active MTHFR available to produce 5-methyltetrahydrofolate (which is used to decrease homocysteine). Low dietary intake of the vitamin folic acid can also cause mild hyperhomocysteinemia.
Low folate intake affects individuals with the 677TT genotype to a greater extent than those with the 677CC/CT genotypes. 677TT (but not 677CC/CT) individuals with lower plasma folate levels are at risk for elevated plasma homocysteine levels. In studies of human recombinant MTHFR, the protein encoded by 677T loses its FAD cofactor three times faster than the wild-type protein. 5-Methyl-THF slows the rate of FAD release in both the wild-type and mutant enzymes, although it is to a much greater extent in the mutant enzyme. 677TT individuals are at a decreased risk for certain leukemias and colon cancer.
Mutations in the MTHFR gene could be one of the factors leading to increased risk of developing schizophrenia. Schizophrenic patients having the risk allele (T\T) show more deficiencies in executive function tasks.