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Seeking thoughts and pointers on my 23andme results

Discussion in 'Genetic Testing and SNPs' started by Bluebell, Jun 19, 2013.

  1. Bluebell

    Bluebell Senior Member

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    A quick summary if the rest of my post is too long!

    1. Looking for interpretations and suggestions regarding my 23andme genetic results.
    Particularly how these alleles would work together to affect my methylation cycle and other processes.

    2. Looking for suggestions about which blood/urine lab tests to order now, before I begin any new supplement / nutrition program.
    I am limited to tests I can order myself without a doctor's intervention.
    My budget for this is modest.

    3. Looking for suggestions about supplement and dietary treatments to implement.
    Types, timing.

    ============
    Introduction

    Hi - I've been lurking on Phoenix Rising for the last few months, dipping in and out of various topics, learning information, preparing to do the 23andme test etc. This is my first post.

    I am trying to figure out what is going on with my health - some problems I've had a lifetime, others for the past 20 or 10 or 2 years... so many of them are potentially related to methylation issues, and with the help of others' knowledge and experiences that are generously shared on forums like this, I'm finally putting some of the larger picture together.

    I am unemployed, and I have no doctor, health insurance, nor understanding people I can really talk to about any of this, so I am trying hard to get up to speed on these issues by myself.

    I have one and a half (can't forget the abandoned half, ha ha... sob) advanced degrees (non-medical, non-"hard science") so I am used to doing research, compiling information, and piecing together puzzles, but not in these subject areas. Ninth grade biology was a looong time ago! :)

    I got my 23andme results back a few days ago. The first thing I rushed to check was my MTHFR status, because that's the first related issue I became aware of earlier this year (which eventually led me to find this discussion forum). I am compound heterozygous for the 2 main ones, apparently the second-worst combination result that a person can have regarding those 2, and I was so relieved to find this out that I couldn't sleep that night out of excitement. It helps to get independent confirmation of why and how certain things might be happening to one physically/mentally, things that others sometimes don't take seriously, or fully grasp the effects of.

    Because I don't have much money to spend and live in an area that is light on alternative practitioners, I have not gone the Yasko route or sought out other medical advice (beyond one big health issue I had about 5 months ago, before I started looking into this subject, and which the mainstream doctor I consulted hardly helped me with), so basically I am trying to do this D-I-Y, and I will have to go the cheap-and-cheerful method for the foreseeable future.

    Although I am new here, I am hoping that I can get some pointers and advice about my 23andme results. At one time or other over the past few months, I've read all of the historical threads in this subforum. I have also looked at Yasko's free online publications, perused the Ben Lynch site, watched Rich van K's Scandinavian powerpoint presentation, etc. I have tried to locate and note the info that might relate to my situation, but the deeper knowledge that many here seem to have of how particular genetic variations work together in concert, and how they should be addressed as an interlocking system, is way beyond my current level of understanding.

    Thank you for any light that you can shed on my specific situation.

    ========
    23andme Results

    These are the relevant alleles that are not "normal"/wildtype
    (plus my VDR Taq, which is the majority result so I have designated it at -/-, but that's considered a risk by Yasko and apparently should be accounted for in terms of treatment, so I've included it here).

    I have attached a pdf of my results, but can't figure out how to make that chart immediately visible in my post. Here is the info without formatting:

    reds
    ACAT1-02 AA +/+
    BHMT 02 TT +/+
    BHMT 04 CC +/+
    BHMT 08 TT +/+
    MAO A TT +/+
    VDR Taq AA -/- (Yasko's +/+)

    yellows
    CBS A360A (C1080T) AG +/-
    COMT H62H CT +/-
    COMT V158M AG +/-
    MTHFR A1298C (E429A) GT +/-
    MTHFR C677T (A222V) AG +/-
    MTRR A66G (A919G) AG +/-
    MTRR A664A AG +/-

    =========
    Lab tests

    I am planning to get lab testing in the next few days. I have been waiting to figure out which lab tests to get until I knew my genetic results from 23andme.

    For the last 6 weeks, I have stopped all supplements because I wanted to have as "unadulterated" blood/urine test results as possible. My energy and concentration have been flagging even more without the vitamins, minerals, fish oil, etc., but I think getting the artificial folic acid and cobalamin etc. out of my system has been a help. (The last 2 weeks, I've also avoided all foods that are fortified with artificial folic acid.)

    I have not had any lab tests for a couple of years. There are several issues I've already had trouble with that I know I need to have a thorough look at, such as a full thyroid panel and full iron panel. One test that I will definitely get is a relatively full celiac panel for $180, because 23andme said I was 3 times more likely than the general population to have celiac (I think 2.7% out of 100), plus I have a first cousin who was diagnosed with it over 10 years ago and 23andme's report about celiac disease says having a first cousin with it brings one's odds down to 1-in-33.

    As I've been reading up on these issues prior to knowing my own genetic results, I've made note of the lab tests that have been recommended to other people, but there are so many (over 100) that have been mentioned, and some of them are really expensive, plus I've found negotiating the offerings of sites like privatemdlabs and labsdirect to be anything but straightforward. :confused:

    The combo panels are good and are a better value (like "female anti-aging" or "hormone overview" or whatever), but there are so many different ones, and every one of the combo panels invariably leaves out several crucial tests that cost $49-$99 each, so I've made a spreadsheet to try to see which combination will be the least expensive option overall. I was hoping to get most of the important things done for less than $500, but my least-worst-price combo of tests right now is hovering around $800, and that doesn't even take into account the cost of some of the things that seem to be pretty important which I have a question mark beside on my spreadsheet, like "amino acids", "minerals", etc.

    I would really appreciate hearing which lab tests people here think should have highest priority for my genetic picture!

    Attached Files:

  2. Slicky

    Slicky

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    You need to address ACAT, and BHMT first. Then address CBS. Then MTHFR issue. I am not real familiar with ACAT, and we are still rather new at this ourselves.

    BHMT you will need to "heal the gut". A good probiotic is a great start. A good probiotic is defined as numerous strains (8-15+) and 30-50 billion CFU. One that states is "survives" stomach acid is very important. Prebiotics feed the probiotics and help them work much better. We also drink home made kefir and yogurt. Both are easy to make and dirt cheap to make. If you can afford milk, you can afford these. If you want information on kefir or home made yogurt, just let me know.

    CBS is complicated and somewhat more challenging if you do not have lab work to go with it. It is a lot about detoxifying your body of ammonia, sulfate/sulfite, taurine, etc.

    Your MTHFR combined with your COMT means you will need methyl folate and alternating hydroxy b-12, adenosyl b-12. The dosage is trickier.

    Have you read Autism: Pathways to recovery? It is a free e-book that covers a lot of this: http://www.dramyyasko.com/wp-content/files_flutter/1327512160_9_1_1_8_pdf_02_file.pdf. Others will pop on with links to videos that break down the methyl cycle better :).

    Good luck and hope you see better days soon.
  3. Valentijn

    Valentijn Activity Level: 3

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    Bluebell
    There's a big problem with the way the results are flagged. It's assuming the minor allele is the one to worry about, but in many cases, it's the better allele to have, or none of the variations are associated with a known risk.

    I wouldn't worry about the ACAT, BHMT-02, or BHMT-04 - the SNPs tested don't have any known association with any dysfunction, and your genotype for it is fairly common (20+%) in some groups.

    The MAO interpretation is also largely baseless. While TT is associated with some increased risk factors, GG is associated with other increased risk factors. All variants are equally common. GG is the more active form, but that very well might mean that TT is the "normal" form and GG is over-active.

    The heterozygous CBS is very common - about 40% of the population has it. There's no indication that it's meaningful.

    COMT H62H is a bit odd - TT seems to be associated with better methylation, so nothing to be alarmed about having a CT. The heterozygous version is also extremely common.

    MTRR A664A has no indication that it's associated with any dysfunction, and GG is the more common genotype (well over half the population) so no idea why that is flagged as abnormal. Also not sure why that one is listed twice, with different alleles.

    --------

    BHMT-08 actually does indicate a problem. It looks like a bit of a down-regulation in converting homocysteine into methionine.

    COMT V158M does result in a mutation, reducing the activity of the COMT gene. The heterozygous version probably does indicate some dysfunction, such as with increased homocysteine, but pretty mild compared to homozygous AA. And even AA only elevates homocysteine by 10%. But there probably is a bit of a slow down in breaking down neurotransmitters. It also sounds like AA increases immunoreactivity compared to GG, with AG being in the middle.

    Heterozygous MTHFR A1298C combined with heterozygous MTHFR C677T has a similar impact as homozygous MTHFR 677T. So your MTHFR is running at about 30% of normal. So folic acid will be pretty useless for you, and might even interfere with absorbing dietary or supplemental folate.

    MTRR A66G GG is associated with lower methylB12 production. It also looks like it's upregulating the transformation of homocysteine into methionine. But I haven't seen any indication that the heterozygous genotype has the same issue.
    LaurieL likes this.
  4. Bluebell

    Bluebell Senior Member

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    Thank you, Slicky!

    I will get a strong probiotic, as you suggest. I think the one I already have contains 1 billion (which had sounded like a lot when I bought it) - I probably would need to take the whole bottle at one sitting to reach 50 billion!

    I tried to make homemade yogurt in the past (even buying a little machine) and it never turned out, no matter what I did. I do buy organic whole-milk plain yogurt with active cultures that I eat a few spoonfuls of nearly every day, and have done this for the last 10 years.


    I was going to mention lab testing at the start, but thought my first post was too long as it was, and I also got distracted and spent about an hour trying to figure out how to make my results chart show up in my post without being a hidden attachment (which I didn't manage to do).

    I have now added a section about my situation regarding lab testing to my first post.

    It sounds like the substances you mention which are important to know for CBS are only on an amino acid panel, is that right? I've seen one of those for $199 on privatemdlabs, is this the one to get?


    This sounds tricky - I had thought I was okay to take the methyl B12. (Those versions are also more expensive than the methyl, I seem to recall.)

    After I figure out which blood tests to order and get that taken care of, I'll read the free Yasko book etc. with a finer-tooth comb, now that I know my own genetic situation.


    Thank you, same to you!
  5. Bluebell

    Bluebell Senior Member

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    Hi Valentijn,

    Thank you for your post. I will have to brew a strong cup of Earl Grey and re-read, to get the most out of it! :D


    I understand these important points, and also the idea that the alleles work together in a complex fashion so you can't just isolate one, know what it typically does independently, and use this to predict the overall outcomes seen in the organism.

    It's reassuring to hear that you think many of my reds and yellows aren't too much to worry about. When my VDR Taq was red (before I had read up on it and decided it should be yellow) [and I'd also mistakenly listed a yellow MTRR twice, which you helpfully pointed out to me!], I thought, "Gosh, there is a lot of color here!"

    Of course, no one can be complacent, because there are thousands of other issues that people aren't commonly looking for in their genetic results, or which aren't even known about yet.


    This was my mistake in typing out my results - I will fix it shortly above.


    And regarding the rest -- good stuff - thank you for the explanations!


    In your view, when I kick off my new supplement plan, ought I start out with low does of methycobalamin and a version of B12 (and which version of B12 would be best for my alleles in your view?), or should I do the slower Yasko approach where these biggies are not brought in to the mix for many weeks?
  6. Slicky

    Slicky

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    Okay, first the labs we ran and how much they were (ALL have been helpful, but maybe not ALL are critical for you. My kiddo is "medically complicated"). This way you can look at what we did, what it produced, and see which are more critical to you.

    1. Porphyrins Test (Urine test) through Laboratoire de Biologie Medicale AKA Laboratoire Philippe Auguste in France-- $120.00. This test was a general system toxology report (I believe). It shows mainly if you have heavy metals causing toxins in your system. The metals it tests for are Mercury, lead, arsenic, aluminum and PCB. This would help with the CBS mutation analysis and detoxing.

    2.Organic Acids Test (OAT) test (Urine) through The Great Plains Laboratory--$255.00. This is a metabolic type test that shows yeast, bacterial, fungal, oxalate metabolites, glycolytic metabolites, krebs cycle, neurotransmitter metabolites, ketone and fatty acid, nutritional marker, detoxification markers, creatine, and amino acid metabolites. This test has help me discern the condition of my kiddos gut and some general health information. This would help with CBS mutations.

    3. Neurotransmitter analysis (Urine) at Pharmasan labs $225.00. This gave me information on all her neurotransmitters, GABA, glutamate, taurine. PEA, Glycine, and Histamine levels. This helps mainly with CBS profile, BHMT glycine levels and is greatly helpful in determining a course of action if a mood disorder DXd.

    4. Gluten/ Casein Petids test (Urine) at Great Plains lab--$110.00 This told me ONLY if she had a sensitivity to casein or gluten. The complete panel you talked about may give you more information you would need if you were positive for sensitivity. Thankfully, my kiddo is not sensitive, so what we did was enough.

    Each of the above tests are kinda specialty tests that we got through our immunologist and he had the test kit in his office. My understanding is many labs can do these test as blood tests, with minor variances to procedure. I do not know how much those would be. If you are wanting the same test from the same labs we used (for price or for them being urine tests), call your doc first to see if they have the kits or will order from these labs.

    5. You should probably get TSH, free T3 & T4 so you can see the whole picture (we had normal t3, t4 but high TSH which is subclinical hypothyroid). Also blood tests for Ammonia Plasma levels, and Homocystine Plasma levels (helpful for CBS mutation and BMHT mutation). I am not sure how much this will be.

    I recommend you find sulfite/sulfate urine test strips to test that for your CBS mutation information. We are working on that. Check around, there are many sources, but it seems they are around $30 some with free ship and some with nominal shipping.

    My 23andme report implies (and others have stated as well) that the hydroxy and adenosyl b-12 are better for those with CBS +/+ or +/-. I bought Hydroxy b-12 5mg patches off amazon for right at $22.00/30 patches and that is a 30 day supply. I intend to cut them in half or quarters (but I am dealing with a child too).

    Others may recommend other tests. Again, good luck and I hope I did not give you too much information at one time :).
  7. Slicky

    Slicky

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    So sorry!!!! BIG EDIT to all my posts: I have my BHMT and my SHMT blurred in my head. I am still new to this, again so sorry.

    SO address your ACAT, then CBS, then MTHFR, then BHMT.

    SHMT is the one related to gut, NOT BHMT. You do not have SHMT from what I saw, but a good probiotic is still a great idea.

    BHMT is related to homocysteine, glycine. Other than that, I do not know a whole lot about it. I will edit my last post to show the changes I am talking about.
  8. Bluebell

    Bluebell Senior Member

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    My kettle has been busy this afternoon (with making fortifying cups of tea!), but I really appreciate your detailed responses - they are just what I was seeking.

    I think that some of the tests you had done are only possible with a doctor's involvement, while others are available to anyone. I will look into them. I don't have a doctor now, and, for a few reasons, probably won't get one for at least the next 6-9 months (unless something serious that is new turns up on my lab results).

    I have seen some websites which seem to offer some doctor-only tests to people over the internet without really having a medical consultation with them, for a slight markup in price. Seems a little bit grey-market, but sometimes that's the only way to get something done when the ends justify the means and the regulations are overly-restrictive to begin with.

    Porphyrins, organic acids, and neurotransmitters are not on the list of tests that I've already priced (yikes), but I do have all the thyroid-related ones and homocysteine on my "definites" list. Ammonia was a question mark at an extra $50.


    I had no idea that this sort of stuff was available in patches! Interesting.


    How is your daughter doing on her protocol?
  9. Slicky

    Slicky

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    We just started with the 23andme add ons 1-2 weeks ago :). So far, I have added back into her mix lecithin for its phosphatidylcholine 168mg (BHMT) because I know she did well on it previously. I have added b-2 because her OAT test shows she is pretty low. I will be adding CO-Q-10 because of OAT test also. Her doc added 5-htp and taurine 5 weeks ago trying to balance her neurortransmitters. The rest we will need to add slowly at low doses and work up to see how she does.

    The good news for us is we had already been working on her gut for about 6 months, and it is in pretty good shape now, so that addressed her SHMT before we knew she had an SHMT mutation LOL. We will work on her CBS add ons next (I am getting advice on another thread here LOL). Then her methylin.

    Here is a link to the patches I bought for later: http://www.amazon.com/gp/product/B00B91HFYS/ref=oh_details_o05_s00_i00?ie=UTF8&psc=1 Most non-delayed release patches can be cut without damage to the matrix.

    She is doing okay so far. She has many diagnosis' so she has good days and bad days of course. Most days she is a giggly, awesome eleven year old :D.
  10. Valentijn

    Valentijn Activity Level: 3

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    I have no idea about what order might be best for doing things.

    But the most important issue shown above is creation of methylfolate, so that's one I'd consider to be an absolute priority. Fortunately, "normal" dosages are usually fine, though avoiding folic acid supplements and fortified foods may also be required.

    Your COMT is downregulated a bit, and you have the slower version of MAO, so you probably don't need too much methyl- supplementation and too many methyl groups might even cause problems.

    And your MTR shows that your B12 issues are probably very mild, if there actually is any problem at all (probably not). So hydroxyB12 should work fine, and it should be able to convert to both methylB12 and adenosylB12 on its own without needing to supplement those.

    I don't think anything is necessary to deal with the one likely BHMT downregulation. Other methods for getting rid of homocysteine seem to be functional, and according to the research studies, the BHMT-08 downregulation sounds like it's somewhat mild. If worried about this, you could test homocysteine, methionine, and/or sulfur levels to see what the actual impact is.
  11. Bluebell

    Bluebell Senior Member

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    Slicky -

    That's great! Sounds like there are so many things going for her in this process - good parent, good doctor, peaceful and natural environment around the home (as you explained on your thread, which I found today), young age, giggly disposition!


    I had a quick look at that link, and I noticed that they had no customer reviews, and I had not heard of the manufacturer before. Were the patches recommended to you by someone who can vouch for them? I am not doubting that those patches are beneficial or that they contain what they claim to, but I have spent months lurking on this forum and I have read over and over how many commenters have found most methylcobalamin/methyl-B12 sublingual pills, even the expensive ones made by well-known companies, to be quite ineffective. There seems to be nearly a consensus here that most brands and types of methyl-B12 are only mildly beneficial - or not beneficial at all, and only one brand at the present time is what some people here designate as "5-star" = known to significantly help most who try it. Naturally, this patch is a different form of cobalamin and has a different delivery method, but I thought I'd mention the poor reputation that most sublingual B12s on the market have with the more vocal participants of Phoenix Rising as an instance of a methylation supplement that on the surface would seem to be interchangable and equally-effective across the brands that sell it, but is not.
    (I have no firsthand knowledge of this area, and I'm not trying to sow doubt.)
  12. Bluebell

    Bluebell Senior Member

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    Good. This matches up with what I've gleaned from other sources.


    I stopped taking all my supplements 6 weeks ago (the ones I had been taking were otherwise pretty good, but they had high doses of artificial folic acid and cobalamin in them). In the future, I won't buy any more that have those ingredients in them, in even small amounts.

    I've been avoiding all folic-acid-fortified foods for the past 2 weeks (I started doing this before getting the 23andme results back).

    It's something I'd never before realized could be a concern, and the artificial version is in SO much stuff in the US.

    I suppose the "upshot" is that this wheaty/carbo self-denial will make going gluten-free, if I find out I need to do that too, ever-so-slightly easier. :(

    (The area of the US I currently live in is terrible for supermarket and restaurant food choices - it offers the worst of the worst of the Standard American Diet, and that's it. People in most other countries, or in the largest American cities or certain crunchy university towns, are fortunate in this respect. I lived a long time in Europe and I miss the food choices!)


    Actually, I have long suspected that B12 is a major issue for me, because of several unusual health problems I've been having in the last few years, culminating in a relatively worrying health situation that manifested at the end of last year and is still ongoing. (Researching B12 deficiency at the beginning of this year is what introduced me to the concept of methylation issues and this forum.)

    If I proceed on my hypothesis that B12 is a crucial factor in my case, would methylcobalamin be the best version to take? I don't want to worry about whether my body can convert hydroxy-B12 to the other forms.... I know that Freddd and Rich disagreed on this issue to a certain extent (but I can't claim that I totally grasped their explanations of their positions).

    As long as a moderate amount (say, 500 or 1000 mcg) of methylcobalamin couldn't hurt me, I'm not sure why I wouldn't just go with that form. It's cheaper, more readily available, and more potent - if I understand it correctly.

    Is there something extra that the hydroxy provides? This is where my current ability to understand the fine details of this subject matter reaches its limit!


    Since I'm "red" for all of the reported BHMTs, and sulfur, ammonia, homocysteine, methionine, etc. play such a big part in health, I think I probably ought to have them tested to know where I stand. I'll have to re-jig my list of crucial lab tests and look up the available prices/providers for those. Ugh.


    Valentijn, thank you for your thoughtful, measured, conservative ("conservative" in a good sense) advice - I realize that I have not yet described my health issues on the forum, and the picture of my situation is not complete with just knowing my genetic potentialities. I think some of my heterozygous methylation variations/mutations are not as benign as they could be; some problematic things are definitely going on, getting worse, and leading who knows where (nowhere good).
  13. Valentijn

    Valentijn Activity Level: 3

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    Sorry, I should have been clearer. You don't have an issue producing methylB12 from other sources. But of course, you still might be deficient in active B12s or benefit from supplementing B12.

    The genes listed show little or no problem converting hydroxyB12 to methylB12. So you shouldn't need methylB12 specifically.
    Too much methylB12 might cause problems due to COMT and MAO issues. But that's just showing problems that -might- be present - so if methylB12 works fine for you and is easier to get, then you'd might as well do it, just while keeping an eye out for problems associated with an excess of methyl groups, and taking care of the usual potassium problems. MethylB12 is not really more potent than hydroxyB12, except for people that have a problem creating MethylB12 specifically.
    HydroxyB12 avoids the dangers of potassium draining which comes with supplementing large (vastly exceeding recommended daily intake) amounts of MethylB12. It can also detox cyanide, and is an anti-oxidant or NO scavenger or some such. Personally I find that it reduces my muscle aches.

    I think testing is a good idea. But please keep in mind that most of those BHMT results are literally meaningless. You'd might as well cross out BHMT-02 and BHMT-04 and pretend they don't exist. I have no idea why those two SNPs are included in any methylation panels, since there is 0 evidence that they impact BHMT function in any manner.
    I don't doubt it - but the existing methylation panels are doing a piss poor job of showing where the problems are. They're based on Yasko's interpretations, many of which are completely unsupported by any research. All I can guess is that someone said "Well this gene works in this way, so lets assume a random SNP on that gene is meaningful. And then we'll guess which allele is the riskier one."

    Some SNPs do impact gene function, such as when a different genotype results in a different amino acid being inserted into a protein. Then that protein doesn't function properly, or it breaks down too quickly to be of much use. And there's research showing that these specific mutations cause problems.

    But many SNP genotypes have no impact on the gene which they are a part of. Some might be a bit rarer than others, but often this just reflects racial diversity. And there is 0 research showing any problem associated with those SNPs! While that doesn't prove that there isn't a dysfunction associated with them, it does make it useless to try to draw any conclusions about them.
  14. Bluebell

    Bluebell Senior Member

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    Yes, I do get the sense that there is so much truth in some of these conceptions and collated human experiences, yet the specifics are very woolly, with too many people accepting some vague claims at face value... mostly because they are all there is to grasp ahold of.

    Having several different alternative medicine doctors/practitioners repeat some of the ideas on the internet makes it sound to the typical person like there is a medical consensus and approval, but is there really, even in the woo-ier alternative fields? (I'm not knocking those fields - they have got a lot of things right.)
  15. Bluebell

    Bluebell Senior Member

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    Okay, thank you -- these things slightly ring a bell -- it was a long-ish time ago that I read the Rich/Fredddd discussion on this.

    Oh my, I don't know what problems are associated with an excess of methyl groups - I don't even know what methyl groups are -- (biology or chemistry or physiology or whatever this is, is such a new subject for me :ill: ). Obviously, I've got to read up on all this. Groan!

    Now, I do have a better idea about what potassium problems/hypokalemia is. I seem to be prone to this, because several months ago, as an experiment I tried taking my 1000 mcg methylcobalamin tablet sublingually for a few days (versus just swallowing it with my other vitamins, as I had done for the previous 2 years) and WHOA did the potassium thing hit me. Lots of heart palpitations, back/neck muscle cramps, feelings of dread, utter exhaustion, etc. I got some potassium 99 mg pills (only strength that I could find) and started taking them several times a day, plus eating lots of bananas and potatoes, but it was a while before my body settled down.

    If hydroxy-B12 ought to be easily convertible by my body to the methyl form, and it has no chance of causing hypokalemia (which can be scary and not easy to fix), I can see the sense in trying it first. I'll have to look it up and see what's available and affordable. I'll also re-visit Rich's writings on it.
    Valentijn likes this.
  16. Valentijn

    Valentijn Activity Level: 3

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    I think the concept is sound and very helpful, but the implementation has been rather bad. We need a methylation panel featuring SNPs that are known to have an effect upon methylation. I'm working on this using the SNPs tested by 23andMe, but it is a very tedious process - which is probably why other panels are throwing on a combination of well-known and completely random SNPs, putting some vague symbols on them, and leaving it to the patient to draw conclusions.
  17. Bluebell

    Bluebell Senior Member

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    Is there somewhere where you (or someone else who is very knowledgeable) have explained what seems to be the very best testing panel to do at the present time, or, if there is not one pre-packaged and branded "panel" that is clearly sound and useful, is there a list of each of the crucial substances (like homocysteine and so on) that ought to be tested?

    I am stuck at the point of figuring out which blood/urine tests to order, while keeping the cost modest, and I'm in "analysis paralysis" and I feel overwhelmed by these choices. Yet my hair is starting to fall out and I really do need to start taking some vitamins/minerals/oils soon.
  18. Bluebell

    Bluebell Senior Member

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    I have checked my results for these 2 snps....

    which were mentioned in a 2011 thread:

    first in a comment by rwac:
    "Other interesting things I have found:
    SNPs on BCMO1 which controls conversion of beta-carotene to retinol.
    http://www.snpedia.com/index.php/BCMO1
    Rs7501331 = T and
    Rs12934922 = T correspond to lower serum retinol."

    then in a comment by LaurieL:
    "I also have this one. Interesting, I wonder how many of us do?"

    then in a comment by Rich van K:
    "LaurieL, I was interested to see that you have the BCMO1 SNP. Do you find that if you eat a lot of carotene, such as in carrot juice, that your skin turns orange readily? I've encountered one case like that, and it would be interesting to know if he has that SNP."

    ====
    and then they were mentioned in a 2013 thread by Gestalt:
    "rs12934922(A;T) - Reduced conversion of beta-carotene to retinol Associated with Rs7501331 and reduced BCMO1, lower ability to convert beta-carotene to retinyl esters and higher serum beta-carotene levels.rs7501331(C;T) - Reduced conversion of beta-carotene to retinol Reduced BCMO1 activity results in 32% lower ability to convert Beta-carotene to retinyl esters and higher serum beta-carotene levels."

    =====
    I have also got these two versions of the alleles - AT and CT.

    I have been suspecting for the last 12 months that I do not convert much beta-carotene to retinol.

    For years, I followed the mainstream advice (even by mainstream MDs who are extra-enthusiastic about supplements, like Sahelian, Oz, Weil, etc.) to stay well away from retinol in supplements and rely solely on beta-carotene.

    But last month I bought some cod liver oil with a decent amount of real A in it, and I am looking forward to trying it.
    My snp results give me confidence that this was the right path to take.

    =====
    Pardon my ignorance, but is there a list somewhere on Phoenix Rising (or out on the internet) of interesting snps like this to look at?

    I have a feeling I'm a little bit clueless about what genetic resources are actually available.

    I thought I had a good look around within 23and me when my results first came back, but maybe this kind of list is supplied there and I don't know it. I can't say that their home page layout is the most informative or inviting.

    [And can I just say how much I hate the bouncing to-and-fro "tile" effect that all the websites are going after now - the Pinterest idea of constantly jumping-around squares, which might fit some manic, charged-up-on-artifical-food-colors culture's idea of good, intuitive organization, but pain my brain... what's so wrong with calm outlines and hierarchies?]
    Valentijn likes this.
  19. Valentijn

    Valentijn Activity Level: 3

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    When I say "panel" I just mean a group of SNP results associated with a specific process. The genetic genie one (based on Yasko testing) has some useful results, and some which are completely random. And some for which the risk factor is flagged wrongly, based on cancer risk rather than methylation malfunction :p

    As far as lab testing goes, the top two stickied threads at http://forums.phoenixrising.me/index.php?forums/diagnostic-guidelines-and-laboratory-testing.33/ might be helpful. There's also a roadmap which some people have found very helpful at https://sites.google.com/site/cfstestingandtreatmentroadmap/
  20. Valentijn

    Valentijn Activity Level: 3

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    Not that I know of, which is why I'm creating some geneticgenie-style panels which pull out interesting results from 23andMe results. I've got a couple easy ones done: genes associated with ME and FM and increased severity, and "Are you as 'tolerant' as Richvank?" (based on his results posted for genes likely to relate to tolerating folic acid, folinic acid, etc). And I'm working on some relatively simple ones for EDS, cystic fibrosis, and other genetic disorders. But right now I'm in the middle of a much harder one regarding methylation and associated issues, which requires a ton of research.

    I think they have information about well-knows risk factors of some illness. But I've seen no indication that they have anything particularly relevant to ME/CFS.

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