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Genetic testing results - SNPs

Blog entry posted by SickOfSickness, Jun 25, 2012.

Based on my limited understanding of my 23andme results, I have a heterozygous mutation for rs1801133. "Also known as C677T, Ala222Val, and A222V, it encodes a variant in the MTHFR gene, which encodes an enzyme involved in folate metabolism." I don't understand this, so I hope it means that Freddd's protocol (which I have started) will help.

I also have a rs1065852 mutation meaning decreased functioning (or non-functioning variant of) CYP2D6. I have a rs1135840 mutation which also is related to CYP2D6. For other reasons, I already knew I had some kind of cytochrome P450 issue. Since 23andme is not comprehensive, I could have additional problems to the CYP2D6.

And rs1799852. "Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels."

And rs11572103 and 2 related ones.
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  1. SickOfSickness
    I don't know much about it. Just that you can search some sites for the SNP names like I did.
  2. Ivana
    thanks.. Once u get the results, what do u do with them? ie. How can they be interpreted? Is there anything that helps this? Ive had my MTHFR tests done which showed moderate and high activity, but no idea what it means
  3. SickOfSickness
    @Ivana This is from 23andme results. They send you a vial and you mail it back with saliva. You get many genetic results. Saliva may have less accuracy for some results. The blood tests are Spectacell MTHFR, Quest MTHFR, and Amy Yasko's, and some others. Rich Van K recommends a couple of tests here: http://forums.phoenixrising.me/index.php?threads/new-here-want-to-understand-basics.17703/#post-269846
  4. Ivana
    wow! where do you get all this stuff tested? what's the name of the test tequest?

    Is there anything that can help you with this stuff?
  5. taniaaust1
    Here's something I have in my medical notes which my specialist has written on this after he talks about how my higher plasma homocysteine level (its in the high end of the normal range) was the thing which firstly alerted him to me probably having this issue.. (which follow up tests then showed I did have).. remember I have two copies.. not one copy of the mutation as you have).

    "This means she has 50% of the normal activity of the enzyme 5, 10 methylene tetrahydrofolate reductase, which converts homocysteine into methionine.

    The MTHFR gene is an autosomal recessive gene present in 5-12% of the population. She would of recieved one copy from her mother and one copy from her father.
    One Study showed a 16.9% prevalence there.

    So this situation appears to be about 10% of the Caucasion population and it is this which is associated with the risks of vascular disease, thrombosis and neural tube defects in babies of affected mothers. It is a potentially reversible factor in the later risk of dementia.

    When associated with the C677T mutation there is also an increased risk of thromboembolism.

    It is important to find this situation in a woman before she embarks upon pregnancy, as the supplements below will protect her and her babies.

    The enzyme puts a methyl group on the homocysteine molecule, turning it into methionine.

    Evidence suggests that high homocysteine has adverse effects on vessels, neural tissue and prehaps joints. It also slightly increases the risk of thrombotic events. An increase by 5 umol/L increases the coronary and stroke risk be between 50-80%

    If positive, the majority can be corrected by about 1 mgm of folic acid per day, and if they fail to respond to that, extra B12 and trimethylglycine can be added.

    I recommend, folic acid 2.5mg per day, methyl cobalamin 400mcg/day, trimethyl glycine 600mg per day and pyridoxal phosphate 5-10mg per day"
  6. taniaaust1
    Hi Soc. C677T Polymophism of the MTHFR gene is very common

    As you have a heterozgous mutation, that means you have just one copy of the mutation rather then two copies of it (if one has two copies it means one inherited a copy from both parents).

    Its when one has two copies that one can be really quite affected by it (doctors will generally say that one copy wont really affect much increase ones risk of various things). If you thou have one copy and your partner (if you have one) has one copy.. your children have, I think it was a one in four chance then of inheriting two copies which then increases the risk of various medical issues.. it is important for females planning to have children to know if they carry two copies of it as then certain things should be taken during pregnancy (due to increased risk of miscarriage etc.. which is preventable if one knows they have 2 copies of the gene throu taking increased folate and baby asprin ...as with this issue one gets hypercoagulation).

    In my own case cause I carry two copies, my daughter was born with serious birth defects (club feet, missing spinal bones, severe spinal curvature etc), an issue much like spina bifida due to how this polymorphism affects my folate.