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MTHFR Mutation A 1298C single copy

Discussion in 'General ME/CFS Discussion' started by Lee Ann, Apr 27, 2015.

  1. Lee Ann

    Lee Ann

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    Tennessee
    Hi All,
    It's been awhile since I've posted here. I was tested for the MTHFR gene and had Mutation A1298C Heter.
    Any suggestions? I've done a little research but not much. Dr Lynch has great info. He also said a single copy of the 1298C wasn't harmful. Sooooo, should I be concerned?
    Thanks for your input
     
  2. caledonia

    caledonia

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    Cincinnati, OH, USA
    Shouldn't be much of a problem, if any. Maybe a minor risk of mental health issues. Pretty hard to say much with only one SNP and no functional info to go by.
     
  3. JaimeS

    JaimeS Senior Member

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    Mid-Ohio Valley, United States
    @Lee Ann ,

    Primarily, being heterozygous for that gene seems to put one at increased risk for certain cancers. However, being heterozygous for this SNP is super-common - almost half of Caucasians are heterozygous, for example.

    [​IMG]
    (SNPedia, rs1801133, accessed 4/27/15)

    See the bright green part of the bar? That's heterozygous individuals. Each line represents a different population. I am also heterozygous for this SNP. It's not a big deal, unless it's a big deal for 35 - 55% of us!

    -J
     
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  4. Eeyore

    Eeyore Senior Member

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    A1298C hasn't really been found to be very interesting. It doesn't seem to have much effect on enzymatic activity, and the general consensus is that, especially in simple heterozygotes (those who lack a polymorphism on the other copy of MTHFR, such as C677T), A1298C can be ignored.

    If you really want to be thorough, check your homocysteine levels - it's a cheap and fast blood test any doc can order for you. They will see it as a measure of cardiovascular risk. You can also get a lot more info by getting a 23andme, ancestry, or other similar SNP test and running the results through something like genetic genie (for methylation) or even promethease (which is more like drinking from a fire hose - if you lack a medical background, it will be very hard to interpret it all, and you might get unnecessarily freaked out - that's unlikely with genetic genie, which still gives you good methylation info).

    My dad is a compound heterozygote in MTHFR (one allele from one parent is A1298C, and the other is C677T). Phenotypically, he is in excellent health in his late 60's, still working full time, and without any history of major chronic illness (no heart disease, no cancer, no diabetes, normal bp, normal blood lipids, no autoimmune disease, no inflammatory markers, normal major organ function, etc.)

    I think more genetic testing is generally a good thing for any patient with ME, but based on the A1298C heterozygosity alone, I wouldn't be worried enough to do anything at all.
     
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