Invest in ME Conference 12: First Class in Every Way
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Help me with my 23andme results

Discussion in 'Detox: Methylation; B12; Glutathione; Chelation' started by cas0620, Apr 7, 2015.

  1. cas0620

    cas0620

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  2. PeterPositive

    PeterPositive Senior Member

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    Hi,
    what stands out is the homozygous MTHFR 677 snp which reduces the ability to convert folate. Also the MTR A2756G may cause lower B12 levels. The two put together could cause high homocysteine and other functional issues.

    Have you ever got your serum homocysteine tested? If not, I'd suggest to do it. It's a relatively inexpensive test.

    Your Genetic Genie report already provides a good intro on the subject. Check it out.

    cheers
     
  3. cas0620

    cas0620

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    Thanks! Does this mean I should supplement with folate and b12? What are the consequences/effects of this snp? (totally new to all this)
     
  4. Jonathan Edwards

    Jonathan Edwards "Gibberish"

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    Dear cas0620.
    The reality seems to be that nobody has any idea how these snps relate to ME or related health problems on the whole. You are probably confused because they sell this gene service and then nobody has any idea what to do with it. You will find lots of people on PR giving different advice on this but one of the rules of PR is not to give medical advice. It is less clear whether or not giving advice on supplements and vitamins that nobody knwos whether otr not they will help is 'medical' but as far as I can see it is all hearsay. As far as I am aware there is no reason to think that B12 or methylation have anything to do with ME.
     
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  5. ahmo

    ahmo Senior Member

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    Northcoast NSW, Australia
    We seem to live in parallel realities. I, and many others here, have benefited tremendously from B12 and folate. When I look back at my earlier life, I see that low B12 was always present, always a brake on my ability to function, and an underlying reason for my life-long insomnia. There really is no treatment for those of us with ME that is not hearsay. That's part of the whole issue: lack of treatments. But this forum exists so we can share our experiences. My anecdotal, lived experience becomes part of the hearsay here. Together, we are citizen scientists, working our way through our individual mazes, looking for places we intersect with and can offer some possibilities to others.

    Diagnosing and Treating Vitamin B12 Deficiency‬
    http://www.youtube.com/watch?feature=player_detailpage&v=QqjyAeOLyKM
     
    Last edited: Apr 8, 2015
  6. Jonathan Edwards

    Jonathan Edwards "Gibberish"

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    What worries me is that a lot of members advise newbies as if they are talking established science when, out of context, as for someone with ME, it has no basis in science. 23andme are making a packet out of selling stuff that as far as I can see has no relevance to the health of PWME. People like cas0620 apparently come to the site to find out what is known. I think the first thing to do is to point out that nothing is known. All we have is how individuals feel after trying this or that. The rest is a pseudoscience.
     
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  7. PeterPositive

    PeterPositive Senior Member

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    Wouldn't it be best to comment on specific cases? I am asking because the opening post simply requested basic help on the result of a genetic test.

    The MTHFR mutation is not even controversial in terms of research. No one in this thread, as far as I can see, is claiming that CFS/ME is caused by a bunch of snp mutations.

    I offered my non medical advice based on the experience that 23andMe helped me figure out the likely reason for a stubbornly high homocysteine (found initially > 90) which was causing a lot of secondary symptoms.

    I think it would be more apropos if you started a new thread with your specific complaints, instead of targeting a random discussion.

    Thanks
     
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  8. pogoman

    pogoman Senior Member

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    Whether intended or not, PR attracts many who have the MTHFR mutations but may not have ME/CFS.
    I ran across this site close to 3 years ago while researching MTHFR as a possible cause of my issues after my sister was diagnosed with it.
    After I found out thru 23and me I was homozygous for MTHFR, I had a senior genetic doctor at Kaiser tell me that MTHFR was not the cause of my myopathy and fatigue :D
    Yet 6 months later, after analyzing my 23andme results and learning from members here, I am almost pain free.
    I actually pulled a 12 hr shift tonight which a year ago would not have been possible without opiate pain meds.
    So for the OP and others that have MTHFR, it has been researched pretty thoroughly since discovered in the mid 90s and the various methylation protocols to treat it have been proven to help.
     
  9. Jonathan Edwards

    Jonathan Edwards "Gibberish"

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    I am not targeting a random discussion. I am trying to help the enquirer.

    There is another specific reason why I make these comments here. When I see PWME posting sceptical comments about speculations about this sort of stuff on PR they tend to get shouted down (or told to push off) by those who want to speculate, sometimes abusively. It is easier for me to put sceptical comments because being shouted down does not bother me.

    I could comment on specific cases but I prefer to try to avoid rustling any more feathers than is necessary. And I would probably have to quote more than have the posts on this subforum.
     
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  10. Jonathan Edwards

    Jonathan Edwards "Gibberish"

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    Can you give me a published reference in the context of ME? Or any context?
     
  11. Helen

    Helen Senior Member

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    I can not go into this discussion for the time being but I would at least like to share this study. I have had many discussions about B12 and folate treatment among PWME with the main author. He was a doctor at a ME-clinic in a close city. No doubt at that clinic that most PWME get help from and are depending on B12 supplementation. Why? No answer yet. The clinic has a very limited budget for patients and even less for research. FWIW.

    Scand J Rheumatol.
    1997;26(4):301-7.
    Increased concentrations of homocysteine in the cerebrospinal fluid in patients with fibromyalgia and chronic fatigue syndrome.
    Regland B1, Andersson M, Abrahamsson L, Bagby J, Dyrehag LE, Gottfries CG.

    http://www.ncbi.nlm.nih.gov/pubmed/9310111
     
    Last edited: Apr 8, 2015
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  12. pogoman

    pogoman Senior Member

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  13. adreno

    adreno PR activist

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    While we don't know exactly how these polymorphisms influence ME, we do know that several of them are bad news in terms of health. C677T is associated with hyperhomocysteinaemia, which is associated with many diseases. Seems to me it's a least worth checking your homocysteine levels.

    http://www.ncbi.nlm.nih.gov/pubmed/23116396


    Besides CVD, Alzheimers and depression, there are also associations between MS, Parkinsons, IBD and many more:

    Association of methylenetetrahydrofolate reductase gene C677T polymorphism with multiple sclerosis in Turkish patients

    Methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and susceptibility to Parkinson's disease: a meta-analysis

    Meta-analysis: hyperhomocysteinaemia in inflammatory bowel diseases
     
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  14. PeterPositive

    PeterPositive Senior Member

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    Would you think that an homozygous mutation of the MTHFR 677 isn't worth investigating? Regardless of ME?
    The enquirer didn't even state if she has ME.

    Shouted down? :)
     
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  15. Valentijn

    Valentijn Senior Member

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    In the case of MTHFR there's a lot of solid research into the missense mutations which cause reduced enzyme activity. While many SNPs (especially non-coding ones) on many genes are prone to having vague, contradictory, and low-quality support for their impact, that is not always the case.

    It's been found pretty consistently that MTHFR C677T (rs1801133), for example, results in 70% reduction in enzyme activity when homozygous, and about 35% reduction in enzyme activity when heterozygous. Numerous studies consistently associate this with a modest elevation in various health risks: elevated homocysteine, and various folate-related birth defects when the mother has a mutation.

    Things can and do get a bit crazy at that point, and some people then engage in various histrionics about their "broken" genes and the need to spend a lot of money on low-dose Yasko supplements which ironically don't even take into account the reduced ability to convert inactive (and cheap) folic acid into an active (and expensive) form. But again we can go back to the research, and find a couple of papers which show that people with these mutations completely remove the elevated risk factor if they supplement with an active folate or simply eat a respectable amount of vegetables as part of their regular diet.

    The other common source of passionate misunderstandings is that people assume that having one of these mutations is exactly equivalent to having a disease, and that they are "diagnosed with having MTHFR" or similar. But if we look at prevalence rates of these mutations, it's obvious that they're far more common than any disease (or all diseases), and people usually live with them with little or no problem. On average, people have a 30-40% reduction in MTHFR gene function compared to optimal function. Hence it's nothing to get excited about when someone joins the 10% of the population with MTHFR C677T +/+. Just take a supplement or eat some damned vegetables, especially during pregnancy. Problem solved.

    Oh, and methylation mutations don't cause ME/SEID. People just need to get over that, and move on with life. The research thus far shows no association, and that research is of a higher standard than a clinician saying "I see a lot of these mutations in ME/SEID patients" precisely because 1) they are not actually keeping track, and 2) they aren't seeing how ridiculously common those same mutations are in the general public.

    I think there is a lot of quackery involved in SNPs currently, mostly originating with Yasko and those who mindlessly parrot her, but also branching out now with other profit-driven efforts generally run by people with no clue of what they're doing, and liberal cut-and-pasting from everything on the internet except the actual relevant research papers. But this doesn't mean that the entire field is worthless. It just means that a lot of misinformation needs to be corrected, and hopefully replaced with something more substantial.

    By all means, please fight the misinformation. But there are some valid and relevant claims regarding SNPs which can be helpful for people to know about.
     
    Last edited: Apr 18, 2015
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  16. Helen

    Helen Senior Member

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    Do we really know that?

    Really interesting. I didn´t know there was any yet. Would you please guide me to this research?
     
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  17. PeterPositive

    PeterPositive Senior Member

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    @Valentijn you're making a good job at pointing out where the research is solid and where it isn't.
    When I first came to this website I was similarly confused by the amount of competing hypothesis that were discussed and what evidence was there to back them up.

    I don't think I would agree entirely with this. For healthy people, maybe. For sick people, it's probably worth a closer inspection.

    High homocysteine is likely to also involve low B12 and B6, which you don't obtain by eating the "damned vegetables" (e.g. for me veggies don't help at all), and maybe other co-factors. Additionally it could correlate with low or very low glutathione status.

    I agree, none of this is probably going to be the single answer to their complex health problems, but from the small sample of this forum it appears to be one significant piece of the puzzle. Personally it has helped me and other people to literally get out of a bed ridden situation.

    Of course the bottom line is not to get stuck with just the methylation business. I fear a lot of people do that because they are not given many other avenues to explore. :(

    cheers
     
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  18. Valentijn

    Valentijn Senior Member

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    Yes, 1000 Genomes has been collecting a lot of data from ethnic and mixed populations for quite a while. For many SNPs there's now a general group having over 2,000 people in it, which makes for a very good indication of allele and genotype frequency in the general population.
    There's one or two papers from what I recall, but I don't know where. Someone else might.
     
    Last edited: Apr 8, 2015
  19. Valentijn

    Valentijn Senior Member

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    Sort of. I agree that it's often worth a try to see if supplementing something indicated genetically is helpful. But I was referring to homocysteine being elevated in response to SNPs on a certain gene - if MTR and MTRR are normal, there's no apparent genetic basis for low B12, just for low folate. So it wouldn't make sense to supplement B12 based solely on MTHFR mutations, though there might be other reasons to do it.
    I think we're getting back to attributing "methylation" with results which might be simply the result of B12 supplementation, or something else entirely. For example, a very high dose of hydroxoB12 seems to be quite helpful for some of my symptoms, but I'm not taking anything else that particularly supports methylation. So I think we're in the position of not really knowing (or being able to know) which exact supplements or vitamins are helping, nor why they're helping.

    The result is that we're making guesses, which is fine, as long we aren't treating those guesses as if they're proven fact. One of my biggest peeves is doctors who can't say "I don't know" but instead try to sell some theory which appeals to them. It's just as annoying when patients make the same mistake :p
    Yup. If we were all able to get real testing and treatment of bigger problems, we could focus on treating those instead of self-experimenting with the few things that are available to us without a prescription. Hence I think it's important that we be able to share our experiences and theories, but it's equally important that we don't oversell those theories and that we're willing to examine them closely to see if they hold up. We can't afford to get bogged down by dogma or pseudoscience.
     
    Last edited: Apr 8, 2015
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  20. PeterPositive

    PeterPositive Senior Member

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    Notice... I did not say methylation :D
    I agree with you that the 23andMe test is not that important, nor specific, in finding out a functional deficiency in one or more nutrients. At best it can show tendencies. One could simply run a series of blood tests and assess some of the useful markers.

    For me the MTHFR mutation was helpful to clarify why homocysteine was so stubbornly high and which route to take to supplement the missing folate. By default I was given synthetic folic acid.

    I understand. I have completely skipped the whole Yasko bandwagon. Too little evidence, too convoluted approach.

    At the same time I think people like Dr. Lynch are doing a good job at digging in the relatively uncharted territories of methylation (yep, this time I said it :) ), low GSH, SAMe etc... He is not making unwarranted claims, or specific connections with certain health problems, but just trying to get to the bottom of it without loosing perspective of the complexity at play.

    Maybe a sticky thread with some reflections on genetic testing, putting it in perspective, would be helpful, especially for new people, who is typically overwhelmed and is unable to parse through tons of more or less valid material.

    cheers
     
    Last edited: Apr 8, 2015
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