MTHFR Results – Two Copies Of C677T Mutation (Homozygous)

1 Jul

______________________________________________________________________________

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.

 

______________________________________________________________________________

______________________________________________________________________________

 

From Wiki:

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.[12]

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%).[13] 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.[14] In studies of human recombinant MTHFR, the protein encoded by 677T loses its FAD cofactor three times faster than the wild-type protein.[15] 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.[16] 677TT individuals are at a decreased risk for certain leukemias[17] and colon cancer.[18]

Mutations in the MTHFR gene could be one of the factors leading to increased risk of developing schizophrenia.[19] Schizophrenic patients having the risk allele (T\T) show more deficiencies in executive function tasks.[20]

______________________________________________________________________________

Advertisements

5 Responses to “MTHFR Results – Two Copies Of C677T Mutation (Homozygous)”

  1. Sterling Hill July 12, 2012 at 3:37 am #

    You most likely got a copy from each parent. It is extremely rare to get both copies from one parent. If you would like to learn more about MTHFR, I have a website, MTHFRsupport.com and have a page on facebook called MTHFR support. We have a doctor and nutritionist that answer questions for people on the support page on facebook. I am not surprised that you would have MTHFR. Even when MTHFR C677T and A1298C comes back negative, a person with lyme normally has an MTHFR Snp not commonly tested for like the P39P mutation. And before an MTHFR protocol can be put in place, it is good to check for CBS, SUOX and COMT. CBS and SUOX snps have to do with the transulfuration pathway and need to be cleared if there are multiple snps. And with certain +/+ COMT snps, too much folate and methycobalamin can make those people toxic. Dr. Tim Jackson is one of the administrators at MTHFR support on facebook. He had lyme and MTHFR. You might be interested in contacting him. I really hope I didn’t confuse you. I am only trying to help but I know all of this can be overwhelming.

    • 49erBry July 12, 2012 at 5:51 am #

      Thank you so much for the info. I liked the group you mentioned and posted. It is overwhelming and nobody seems to care but this can’t be a good thing. I’ll try to chat with you on FB. 🙂

      • zebra7 September 10, 2012 at 7:14 pm #

        Could you or anyone possibly explain the MTHFR and Lyme relation? You are in my thoughts and prayers.

      • 49erBry September 11, 2012 at 12:16 am #

        Basically the MTHFR is a genetic thing that is passed on by your parents and not from Lyme. You can have one or two mutated genes which means you will need to take a special folate and other pills. What it has to do with Lyme is that it can cause blood clots and your veins may not be well enough for IV antibiotics or IV meds. The mutated genes can cause a lot of issues but it is not very common.

  2. Carma Lyme February 18, 2013 at 10:43 pm #

    wow, good info. thanks.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: