Phoenix Rising supports the Millions Missing global day of protest
Phoenix Rising is delighted to support the demands being made in the ME/CFS community’s first-ever global day of protest …
Discuss the article on the Forums.

New 23 and me results- help with interpretation

Discussion in 'Genetic Testing and SNPs' started by ReneeN, Jan 21, 2015.

  1. ReneeN

    ReneeN

    Messages:
    3
    Likes:
    0
    Hi all,

    I've just received my 23andme results and ran it through Genetic Genie. Can anyone help me out? TIA!
    Renee

    COMT V158M -/-
    COMT H62H -/-
    COMT P199P -/-
    VDR Bsm +/+
    VDR Taq -/-
    MAO-A R297R +/-
    ACAT1-02 -/-
    MTHFR C677T +/-
    MTHFR 03 P39P -/-
    MTHFR A1298C +/-
    MTR A2756G +/-
    MTRR A66G +/-
    MTRR K350A +/-
    MTRR A664A -/-
    BHMT-02 +/-
    BHMT-08 +/-
    AHCY-01 +/-
    AHCY-19 +/-
    CBS C699T +/-
    CBS A360A -/-
     
  2. Sherpa

    Sherpa Ex-workaholic adrenaline junkie

    Messages:
    625
    Likes:
    776
    USA
    Not too bad looking, on paper. No major homozygous (double) mutations.

    You are MTHFR compound heterozygous... Which means your ability to process and metabolize folate could be reduced 50 - 60%.

    The MTR and MTRR mean your B12 uptake and recycling could be impaired.

    You may benefit from B12 and methylfolate supplementation.

    What are your symptoms?
     
    Valentijn likes this.
  3. ReneeN

    ReneeN

    Messages:
    3
    Likes:
    0
    Some of my symptoms are fatigue, low motivation, inability to focus or prioritize, mood swings, inability to lose weight. My son was diagnosed with ADHD and OCD last year, and I think I'm that ADD parent. :) I've tried the Seeking Health sublingual B12 and had heart palpitations from it. Also, when I try to supplement cod liver oil I get extreme rage.
     
  4. drob31

    drob31 Senior Member

    Messages:
    1,210
    Likes:
    696
    Vitamin D can boost testosterone, so maybe that's where the rage comes from...

    Your fatigue and mood swings sound hormone related. Have you had any tests done, hormone, cbc, etc?
     
  5. Valentijn

    Valentijn WE ARE KINA

    Messages:
    14,283
    Likes:
    45,795
    Actually it's just a 50% chance that she's compound heterozygous, since 23andMe doesn't give enough information to figure it out unless her parents have been tested as well. So MTHFR is either at 65% or 30% of functionality - flip a coin!
    MTR and MTRR mutations will have little or no impact when heterozygous, based on the scientific research, unless there are two serious compound heterozygous missense mutations on the same gene. MTRR A66G is one such mutation, but MTRR K350A seems to be a rather milder one. So it's probably not causing any issues unless MTRR S202L ( rs1532268 ) is also heterozygous or homozygous for TT, which isn't uncommon.

    MTR A2756G represents a mild and beneficial up-regulation of the gene when heterozygous.
     
    Sherpa likes this.
  6. ReneeN

    ReneeN

    Messages:
    3
    Likes:
    0
    I take Vitamin D3 drops with no problem, though. However, I will take better notice this morning. Most of the symptoms were present when I was taking no additional supplementation other than the food I eat, which is 99% homemade with next to no processed foods.

    My blood tests-- CBC and FreeT4 came back "normal".

    My sister is also compound heterozygous for MTHFR. My mom has one of them, I cannot remember which.

    I just looked, and my MTRR S202L (rs1532268) is CC.
     
  7. drob31

    drob31 Senior Member

    Messages:
    1,210
    Likes:
    696
    I'm compound hetero for MTHFR. I know Valentijn says it may not be relevant, but it seems like allot of people have this on here.

    ReneeN: Have you had your RT3, Free t3, TSH, and thyroid antibodies done?
     
  8. Sea

    Sea Senior Member

    Messages:
    1,260
    Likes:
    2,618
    NSW Australia
    Did you actually read what Valentijn wrote before you threw that out there?
     
    Valentijn likes this.
  9. drob31

    drob31 Senior Member

    Messages:
    1,210
    Likes:
    696
  10. Sea

    Sea Senior Member

    Messages:
    1,260
    Likes:
    2,618
    NSW Australia
    That thread has a discussion about whether MTHFR mutations are more common in ME/CFS than normal, not about whether the mutations are relevant to health.

    The MTHFR mutations are very common in both healthies and ME/CFS so while they are certainly worth addressing, they are not relevant to a discussion of the cause of ME/CFS.

    Contrast Celiac disease, where 40% of the population carry predisposing genetics, around 1% of the population is diagnosed with Celiac disease, but at least 99% of people with Celiac disease have the predisposing genetics. We're not seeing that kind of difference in prevalence between ME/CFS and healthies with MTHFR.
     
    Valentijn likes this.
  11. Valentijn

    Valentijn WE ARE KINA

    Messages:
    14,283
    Likes:
    45,795
    It certainly is relevant. The uncertainty comes in because 23andMe results make it impossible to know if the mutations are actually compound, because they report alleles in alphabetic order instead of by DNA strand. Hence you usually can't tell if you got one bad allele from each parent, or both from the same parent, in the case of MTHFR C677T +/- and MTHFR A1298C +/-.

    But since @ReneeN's mother was also tested, and her mother only had one, she must have gotten the other one from her father. While it's possible she got both from her father, that's somewhat less likely. So compound heterozygous does seem like the more likely possibility in her case, and she's probably producing active folate at about 30% of the normal rate.

    But all of that aside, it really doesn't look like MTHFR is at all relevant to causing ME/CFS, since we do have mutations at about the same rate as the general public.

    I've also been compiling a new report, somewhat in the Yasko/Genetic Genie manner, but with all of the SNPs included based on research, more relevant SNPs and genes included, and with indications of how much impact each genotype has. When looking at 31 patients and controls, our BHMT function is 2.5% better, our MTHFR is 1% better, our MTRR is 1% worse, and there's less than 1% of difference for AHCY, MAT, and MTR.

    Most interesting, the average impairment for the controls is approximately -32% functioning of MTHFR and -38% functioning for MTRR. So it seems to be extremely normal to have some significant mutations on those genes, though of course it's probably still a very good idea to supplement a bit to compensate, especially when quite ill for other reasons.
     
    Gondwanaland likes this.
  12. skwag

    skwag Senior Member

    Messages:
    190
    Likes:
    156
    Wow. Just Wow. I hope you'll show us more details when you're done. Do you have an idea what the confidence level of these conclusions are with the 31 patients and controls?
     
    Sherpa likes this.
  13. Valentijn

    Valentijn WE ARE KINA

    Messages:
    14,283
    Likes:
    45,795
    31 is a small sample size, but dbSNP data shows the same thing - some of the mutations which have a rather significant impact are common.
     
  14. skwag

    skwag Senior Member

    Messages:
    190
    Likes:
    156
    Yes, the mutations seem to be common for the most part, but your conclusion seems to be much stronger. Common mutations can still be a predisposing factor, but I think your saying that this isn't even the case. These mutations have nothing to do with ME/CFS. Period. Am I missing something, because this seems like a very strong claim and one that contradicts much of the common wisdom around here ( well, at least mine ). I think this is very interesting and that's why I'm curious as to the likelihood that the conclusions would still hold with a larger sample size.
     
  15. Valentijn

    Valentijn WE ARE KINA

    Messages:
    14,283
    Likes:
    45,795
    Based on the data I have so far, there's no indication at all that these mutations are any more common in ME patients than in the general population. I haven't seen any studies indicating that they are more common in us, so it would be a bit odd to just assume that the small sample is completely wrong and a larger sample in the future will provide contradictory data. It's certainly possible, but nothing I'd want to bet any money on :p
     
  16. skwag

    skwag Senior Member

    Messages:
    190
    Likes:
    156
    I wouldn't bet even money either! But I might take some odds.

    Thanks for sharing your work. Much appreciated.
     
  17. Gondwanaland

    Gondwanaland Senior Member

    Messages:
    4,505
    Likes:
    3,487
    I understand that everyone (healthy or not) has one or another (or several) detrimental gene variation. I am very curious as to why they seem to impact me more than my siblings for instance. I think that's where my environmental context plays a role. There can be a lot of different environmental combinations leading to disease, perhaps this is why research on ME/CFS can't find a consistent pattern.

    My siblings are thriving, working, earning money and having fun. And they think I have the wrong attitude.
     
  18. caledonia

    caledonia

    Messages:
    4,203
    Likes:
    3,220
    Cincinnati, OH, USA
    Just popping in so you can see the SNPs Interpretation Guide in my signature links.

    Methylation based disease is a combination of environmental stressors + genetics. If we lived in a perfect non-toxic world, it wouldn't matter how bad your genes were. But we don't.

    I don't think most people have any concept of all the places that toxins come from. They're everywhere. If you've become chemically sensitive you can start to get an idea.

    Even newborn babies have a toxic burden inherited from their mothers. They're still finding DDT in breast milk 40 years after it was banned. Eskimos in the pristine far north have PCBs and fire retardants in their fat. http://news.nationalgeographic.com/news/2004/08/0827_040827_tvarctic_toxins_2.html

    Here's an article from Ben Lynch I was just reading on the same subject. http://mthfr.net/toxic/2014/12/09/
     
    Gondwanaland likes this.
  19. Gondwanaland

    Gondwanaland Senior Member

    Messages:
    4,505
    Likes:
    3,487
    This just can't be stressed enough.
     
  20. caledonia

    caledonia

    Messages:
    4,203
    Likes:
    3,220
    Cincinnati, OH, USA
    The other point is, people with MTHFR don't detoxify well. So, you have all these toxins coming in, and they just keep accumulating. Your body will mask the toxic burden by squirreling away the toxins in your fat and bones. You will be apparently healthy until....one last insult occurs and voila, you've reached the tipping point and become sick.

    Infections (bacterial, viral, fungal) and extreme prolonged stress also count as part of the burden which can make you sick. Toxins can also be biologic, as in mold toxins.

    The first Methylation Made Easy video (linked in my signature) covers this concept.

    If like video, "Chemerical" is a documentary about how a family founds out how toxic all their cleaning products are and then tries non-toxic alternatives. The mother just breaks down in tears once she realizes what she thought was "helping" her family was actually harming them.

     
    Gondwanaland likes this.

See more popular forum discussions.

Share This Page