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C677T A1298C MTHFR mutations

Discussion in 'Optimal Labs' started by primat, Jul 13, 2012.

  1. primat

    primat Silver

    I'm wondering what's considered the normal and what's the mutation for the MTHFR gene, but I guess the way of referencing is used for other mutations, too.

    Does C 677 T mean that the C is normal and one or more T's are hetero/homozygous ?

    For the curious;

    me C677T:AG & A1298C:GG

    SO C677T:GG & A1298C:GT

    Would this mean that I've got the homozygous mutation for C677T and homozygous for A1298C while and my wife is homozygous for A1298C only?

    Edit: from 23andme
  2. JanSz

    JanSz Gold

    Read top four lines in the blue chart for supplementation.

    Use this test to guide doses.

    Test check 34 items, ( 33 vitamins, minerals, amino acids and antioxidants are evaluated) repeat this test every 2x/year until all 34 are satisfied, then test 1x/year

    Spectracell Comprehensive Nutritional Panel


  3. primat

    primat Silver


    "When a person has two copies of the MTHFR C677T gene mutation (homozygous) or one copy of MTHFR C677T and one copy of A1298C (compound heterozygous)"

    Does that mean ONLY one copy of A1298C? I got two A1298CC, and I'm not sure if that make it apply to me then?

    Edit: love the charts!
  4. freesia

    freesia Old Member

  5. freshveggies

    freshveggies Silver

    HI, just saw your post. this is what I see

    For the curious;

    me C677T:AG & A1298C:GG you are +/- for C677t & +/+ for A1298C (corrected this. I looked at the chart wrong) Thanks WeAre Devo for responding.

    SO C677T:GG & A1298C:GT wife -/- for C677T & -/+ for A1298C

    Did you use Raw data rs1801133 for MTHFR C677T

    rs1801131 for A1298C?
  6. Primat - yes the way it is written, C677T is where the T replaces the normal C at location 677 on the MTHFR gene. For A1298C a C is replaces the normal A at location 1298 on the MTHFR gene. This gene encodes the enzyme methylenetetrahydrofolate reductase. Reduces 5-10 methylene THF to,5 methyl-THF for methionine biosynthesis. If yours is not working well you can attempt to by-pass this limitation by supplementing with 5 methyl-THF.


    Just an aside, depending on the orientation of 23andMe you will have to remember when comparing to yasko documentation that C=G and A=T (if orientation is minus versus plus).

    If I am reading your post correctly, you are hetero (+/-) for C677T and homo for A1298C (+/+). Your SO is hetero for 1298 only. Now that you know you might have an issue you may want to consider doing a methlyation panel to see how your current boichemistry is working. I would recommend doing this prior to supplementing. There is only one lab that does this (Vitamin Diagnostics). Maybe you can talk your doc into ordering this for you, but expect to pay out of pocket on this one.


    Recycled info (about a year old) from a forum on mothering.com....

    MTHF. FOR C667T, make sure you take 200mg folate, 200mg folinic acid a day (Yasko doesn't recommend high doses here). For A1298C, she believes it has more to do with recycling BH4 than with folate. People with this mutation tend to end up low in BH4 (which is hard to supplement). Consider the metagenics supp intrinsi B12/folate (it has intrinsic factor that helps B12 get absorbed, and enough mthf folate).

    Anyhow, the C677T one means you will not use folic acid very well, and need to take folinic & mthf folate (Yasko says 200mg of each a day, others have used more and seen benefit). A1298C is less about folate, more about recycling BH4. Low BH4 can cause low serotonin & dopamine, and build-up of ammonia. Liver support is good (liver glandulars, milk thistle, dandelion root). And something to clear ammonia if you need to. You can tell if you have an ammonia problem by doing a urine amino acids test.

    And of course this is a good source as well. http://mthfr.net/additional-resources/
  7. Jack Kruse

    Jack Kruse Administrator

    This directly affect phase 1 and phase two detox of estrogens........as Jansz pictured and buried in that illustration......it also is what alters DNA methylation and this alters your epigenetic switches......this changes how your DNA is expressed......and what it is more sucseptible too........like Cancer etc........Key things are sunlight and oxygen tensions in the environment.
    Last edited: Apr 6, 2016
  8. Joann

    Joann New Member

    After reading and reading .....the more I know the less I know. The is data out there that states hetero for c677t is no big deal, but if also a1298c then it is called "compound" and should be treated as homo. Then I have read it could raise homocysteine, cause blot clots, risk for CRC, heavy metal toxicity. BUT it may also be protective for CRC, leukemia.

    Also, very interesting, is the video by DR Ben, I think thats his name......says Italians in Sicily that have the snps show no risk ......food is better. He says not to take folic acid, but ok from food. only the already converted folacin supplement wit b12 and I think b6.
  9. MamaGrok

    MamaGrok New Member

    Bumping old post ... I just got my 23andme results, and cannot figure out what I'm looking at.

    When I search for MTHFR, it shows me neural tube defects analysis for marker rs1801133, and says:

    - for C677T, I am AG (typical odds of having a child with a neural tube defect). Clearly this is heterozygous, but I cannot yet understand whether simply having C677T, or having one A, is a problem

    It also offers a whole chart showing all the SNPs they chart for MTHFR. For instance, the first few entries look like this:

    Gene Position SNP Versions MamaGrok's Genotype
    LOC100506310, MTHFR 11846198 rs15854 A or G AA
    LOC100506310, MTHFR 11846252 rs4846048 A or G AG
    LOC100506310, MTHFR 11846270 rs1057624 C or T TT
    MTHFR 11854476 rs1801131 G or T GT

    I don't really yet understand what MTHFR means, what methylation defects imply, how they form, how there are so many SNPs for MTHFR, or what C677T means, or where the A1298C y'all mention above is, but all I'm trying to figure out right now is...

    Does what I found show far show a methylation defect issue? How do I interpret the data to know this?
  10. ATL_Paleo

    ATL_Paleo New Member

    Have you tried GeneticGenie.org ?

    It provides an easy to understand document of SNPs from your 23andme raw data. A result of +/-, +/+ or -/- is the easiest way to know if a SNP is heterozygous, homozygous or not an issue.
  11. lioness7

    lioness7 Gold

    Livewello has come out with an app which reads even more snps than GG and is constantly being updated. It is 19.95. The link is found at www.mthfrsupport.com. The site recently had a blogtalk radio explaining how it works. The app is free, you only pay to have your 23andme uploaded and deciphered.


    Hope this helps.
  12. JanSz

    JanSz Gold

    I used
    to do translation of my 23andMe results

    There is two parts
    Methylation Analysis
    Detox Profile

    I have saved both results as .htm file
    do that first (before making donation), because after donation that file is gone.

    I have copied both results as a picture files.
    They look like below.

    I am assuming that the action items for each is under titles like (in my case):

    Addressing MTHFR A1298C
    Addressing ACAT and SHMT SNPs
    Addressing the CBS Mutation
    Addressing the BHMT mutations

    Above is for Methylation Analysis

    There is no suggestions in Detox Profile section.

    I am assuming that dr Jack Kruse would be able to add to above,
    some of the advice, off hand, seems repetitive or contradictory.
    But I have not spend enough time on this to have better understanding.

    Comments are welcomed.

    Last edited: Feb 28, 2013
  13. TheKid

    TheKid Gold

    You might want to give a listen to that podcast Jack did with Dr. Tim Jackson. That might shed some light. Especially since you don't need the SNPs to have the problem. I actually talked with Sterling Hill once and she ran through all the known related SNPs, cause there's more to this than just your plain vanilla 677 1298
  14. freesia

    freesia Old Member

    What I got from the podcast was that regardless of SNPs, if you're running hard in the non fat burning (quick ATP recycling) pathways you deplete methyl groups, particularly through the ATP PC system. This is a double whammy because if you're in that pathway it's at the expense of the PPP where you make reduced glutathione. I think(?) this is where you're going to get optimal gene expression too.

    Some SNPs may be significant (I guess thats where people like Tim Jackson come in) but you could still have plenty of the biomarkers of a methylation block like high oxidative stress, low reduced glutathione, low nadph....and not have anything "wrong" with your genetics.
  15. freesia

    freesia Old Member


    if you go to genova diagnostics (gdx.org) they have a sample detoxigenomic profile (?? think I have the name of that right) and you can compare their detox snps with the ones geneticgenie has pulled out for you.

    Detox snps can indicate possible problems with things like charred meat, cigarette smoke, solvents that kind of thing...
  16. JanSz

    JanSz Gold

    Sounds useful. I will check into that.
    Thank you Anne.

  17. JanSz

    JanSz Gold

    What is Livewello ?
    Livewello is a Social Health Platform that provides tools to make it easier for people to be cared for, in collaboration with their Health Practitioners or Health Coaches.


    Where can I go to start using Livewello?
    Livewello is available as a free iPhone, iPad and iPod touch App.
    Livewello is also free to use online; Go to livewello-app.appspot.com to Sign Up for a Livewello account.
    You will need to Sign Up for a Livewello account if you need your 23andMe Raw Data interpreted.


    Last edited: Mar 1, 2013
  18. Jack Kruse

    Jack Kruse Administrator

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