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Help with SNP results please.

Discussion in 'Genetic Testing and SNPs' started by azzacalabaza, May 20, 2014.

  1. azzacalabaza

    azzacalabaza

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    Hi all. This is my first post here. I would really appreciate someone helping with my results. I have run it by a few people and they don't seem to think I have any real serious mutations.

    Let me start by letting you know what are my symptoms.

    One day around 8 years ago I woke up with a dizziness in my head that just didn't go away. I then developed CFS symptoms shortly after. I have parts of my body that don't seem to stop aching(feet). My memory is very poor. I developed depression and brain fog. I had all the usual tests performed to no avail including MRI on head. Blood tests all good.

    I've tried countless amounts of diets/supplements and protocols and non have made a difference. I've done lots of liver flushes. Done things like lemonade diet and acid alkaline to name a few. I'm currently following a protocol called Nutritional balancing. I have been on this for 4 months. Eat only cooked veggies, a bit of protein and a little basmati. I don't eat nightshades, fruit, dairy or gluten.

    I thought I would give genetic testing a go. Some people think my cbs issue is nothing to worry about as it's the A360A varient. I've been taking methyl b12 (5000mcg) and methyl folate (800-1600mcg) a day and I haven't reacted either way. I take vitamin d, and eat sardines every second day for my fish oils. I also take jarrow formulas b-right, selenium, zinc picolinate and digestive aid (ox bile).

    Anyway, I'm trying to be brief here. I'm sure I'm forgetting many things.

    I'd love an opinion on my results to know if I'm on the right track or not.

    Cheers,

    azzacalabaza.
     

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  2. taniaaust1

    taniaaust1 Senior Member

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    I think if I was in your shoes with those results and your symptoms, I'd probably be running the results throu Valentijns program to see what other mutations and hence susceptabilities to other illnesses you have in a hunt for clues of your problems.

    I think you should look for clues on other things as from your symptoms it doesnt really sound like ME as most have many more symptoms then just a few of those extremely common ones.. headache and fatigue probably appear in hundreds of disorders (except the aching feet throu if you keep looking that could be the clue to finding out what you could have and what to do. I assume your doctor has tested you for diabtes). I think you may something which has been missed but I dont have any idea what it may be.

    I hope you figure things out. Blood tests are only as good as which ones they are. Appearing fine on blood tests means nothing at all if the wrong blood test for a condition has been missed. Best luck
     
    Valentijn likes this.
  3. azzacalabaza

    azzacalabaza

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    Sorry I just didn't list all my symptoms. Was trying to keep it brief. I have many of the typical symptoms of CFS/ME ie. Sore joints, muscle weakness/pain. Get wiped out if it exert myself physically. Sleep doesn't refresh me. Poor short term memory. Word search, general malaise, poor concentration, visual disturbances, enlarged lymph nodes, (neck, tonsils) tinnitus. The list goes on...

    Was hoping to find some answers with SNP's. I have a report from stirling's app which lists many more SNP's.
     
    taniaaust1 likes this.
  4. Valentijn

    Valentijn Senior Member

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    @azzacalabaza - The only major thing I see in your Genetic Genie results is possible B12 problems due to MTRR A66G. Enzyme activity in recycling MTR is at about 30% of normal, and B12 can help speed that up. Due to MAOA, COMT, and VDR being on the slow side, you might do better with hydroxoB12 than methylB12.

    Foot pain and depression aren't ME/CFS symptoms, and reciting a list of symptoms from the CDC site as an afterthought isn't very convincing. But whatever your problem is, B12 might help somewhat.

    I also have a small download at http://sourceforge.net/projects/analyzemygenes/ which can pull rare results out of your 23andMe file, and might help in finding genetic issues.
     
  5. azzacalabaza

    azzacalabaza

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    Thanks @Valentijn. If you look at MTRR on the heartfixer site you will see that combined with a +/+ VDR status he states that Methyl-B12 would be more appropriate than hydroxyl-b12.

    I know foot pain isn't related with ME. I injured them playing soccer in bare feet years ago and they never healed. It's probably completely unrelated but I listed the symptom non-the-less. I have been diagnosed from several doctors for CFS and one Fibro which prescribed me cymbalta. I'm not trying to convince anyone, just trying to sort out my gene issues. I didn't copy anything from anywhere. My right tonsil is enlarged and my right lymph node in neck. My dentist always comments on the size of my right tonsil.
     
  6. bootsydan

    bootsydan

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    @ azzacalabaza

    I thought I would comment as we seem to have many similarities.

    I too have feet injuries (plantar fascitis) from years ago. After many months they improved to almost better, then CFS came and they worsened drastically. It's been nearly 3.5 years now with CFS and as I've made very gradual improvement, so have my feet.

    To heal this injury initially I used ice/heat, epsom salt baths, elevation and most effectively, swimming and spa jet massage. I can't do the Swimming/Spa jets now with CFS and the other things don't seem to make a difference (although epsom salts do seem to help a tiny bit). To me this represents and underlying issue of the body not being able to heal itself properly. My doc said there was tissue damage down there similar to Fibro - although I've never been diagnosed with Fibro.

    I've also tried cymbalta, which I thought made me feel worse so I stopped. I have also tried liver flushes, which I can't remember exactly how they made me feel, but certainly didn't help much. I also have enlarged right tonsil and lymph node in the neck. In fact, many of our symptoms seem very similar.

    Acupuncture has given me the most benefit so far, but I can't really claim to have had a 'Eureka' moment with any treatments yet. Interestingly though, some recent results have shown I have high homocysteine (methylation issue) and strongly positive hydrogen sulfide (gut health issue). These at least give me some leads to pursue for future treatments. Most of the other tests I have done came back 'normal' also.

    I'll be interested to see how you go with your gene results/future treatments. Best of luck!
     
  7. azzacalabaza

    azzacalabaza

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    @bootsydan

    Wow that's amazing that about the similarities. I soak my feet in magnesium chloride water. I have tried also soaking my feet in iced water and seems to help, but only for a short period. I agree with you on that our body's have somehow forgotten how to properly heal itself.

    You said you tested highly for hydrogen sulfide. I'm no expert, but I think that could be a CBS issue? I have read that hydrogen sulfide is a major cause for brain fog. You may be high in ammonia in that case too, which further contributes to the symptom. Do you suffer from brain fog? I haven't had my serum ammonia levels check yet but I plan to. I know my CBS issue is a minor one but in the past my wife has complained of me smelling of ammonia so it's worth getting checked. Problem is getting me arrogant GP to listen. I've gone off supps to get the Pyrrule test done. I don't think i'll test positive but I think it's also worth ruling out and the test is only $60-80 here in Australia.

    I still haven't used my cymbalta script because I'm living a very clean lifestyle and didn't want to hinder any healing my body may be doing. I told my doc I was trying out some alternative approaches to the depression (st, johns wart, 5-htp) and that I'd use it if all else failed.

    Tried acupuncture only once but guess I should give it another go, this time trying to help with my foot pain. I did have a few treatments of some device that 'zaps' you. Can't remember what it was called, but it was a russian invention.

    I also tried something called 'Cleavers' to help with lymph drainage, but didn't seem to change the size of the lymph nodes. I am thinking about buying a rebounder to help there. Mine aren't sore, just larger than normal.

    I'll let you know of any updates in progress. Looking forward to getting HPU test done next week but results won't be ready for a few weeks after.

    Oh. forgot to ask. I have many visual floaters that are super annoying. Do you experience these also?
     
    Last edited: May 22, 2014
  8. bootsydan

    bootsydan

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    I was tested for ammonia recently but it was normal. As were my B12's (methylmalonic acid test). I suffer from brain fog whenever my symptoms are strongest. Whenever my symptoms are weaker my brain feels quite clear. This is an improvement from the first year or two - when it was all symptoms and brain fog all the time.

    I've tried St John's Wart also. Didn't do anything for me, mood or otherwise, but that's not to say it wouldn't work for another...

    So much of acupuncture depends on where they put the needles. I've tried sessions that did nothing, and some that made me feel worse. But the points they used to make me feel better (in particular for headaches) were, on both sides of the body, top of my feet in the fleshy part between the two biggest toes, fleshy part between pinky and ring finger, and side of my palms near the pinky. I was going once a week for many weeks and there was definite improvement, but am currently looking in other areas for treatment so have stopped for a while. I've never had an acupuncturist specifically target my feet.

    I've never heard of 'cleavers.' I tried a lymph drainage massage once and it put me in hospital. Was much too strong, so if ever you considered that, I wouldn't recommend it! My current thinking now is that if I fix the body, the lymph nodes will naturally sort themselves out, as opposed to trying to fix the lymph nodes in order to help the body. It's just a theory though, of course...

    I did experience those at one point, and I agree, they were annoying. Doc said they should go away after a few weeks to a month, and they did. If you've had them for much longer than that it may be a sign of something more serious, but for a short period of time they are considered harmless. I didn't knowingly do anything specific to get rid of them. They just went away of their own accord.
     
  9. azzacalabaza

    azzacalabaza

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    @bootsydan

    Did you arrange all your tests through your GP?
     
  10. caledonia

    caledonia

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    The thing that stands out to me is the MTR/MTRR combo, which is the "B12 double whammy". You would tend to be low in B12 due to that and supplementation would be suggested.

    All B12 is not created equal. What forms and brand of B12 are you taking (oral, sublingual, injection?) With your COMT mutation, and the methyl B12 at such a high dose, technically, you should be having mood swings. So that makes me think what you're taking may not be effective in some way.

    How long have you been taking B12 and methylfolate?

    Can you also do the Detox report on geneticgenie.org and post that here? Make sure to tag me like this: @caledonia if you want me to respond.

    Any history of toxic exposures? Mercury fillings, lead, toxic mold, pesticides, etc.? Lead and mercury can act just like MTHFR and MTR mutations even in the absence of these mutations. Of course if you have both the mutation and the toxic metals, that makes it even worse.

    Do paints, cleaning products, markers, new carpet, etc. bother you?

    Problems with recurring infections?

    How is your gut doing? Symptoms of candida, IBS, etc.?
     
  11. azzacalabaza

    azzacalabaza

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    @caledonia

    Thanks for taking the time to go over my results. I appreciate your help. I've been taking methyl-b12 and m-folate for maybe 3-4weeks. I have taken a dose up to 2mg of b12 and didn't notice any effect. I used to have amalgam fillings but had them all removed in 2007. Nothing really bothers me too much. I have in the past had hayfever allergies. No recurring infections that I can think of. You think I should combine methyl-b12 & hydroxo b12? I don't know if I can get the later.

    Never really had problems with my gut. Although since starting this diet I'm on 4 months ago my bowel movements have become less and a bit harder. Not sure why that is. I eat 80% cooked veggies, but maybe that is the problem.

    Oh. btw. I don't know if you have knowledge of this but I discovered a homozygous mutation in BCM01 A379V. To my understanding this gene is responsible for converting beta-carotene to retinol. I've been having daily carrot juices for months and have been alot of veggies high in beta-carotene. If i'm not converting this to retinoic acid I'm potentially building this up in my blood. If I were not eating animal protein I'd most likely be vitamin A deficient. Wondering if I should be avoiding things like carrots now and maybe even supplement with active form of vitamin A. What are your thoughts on this?
     

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  12. bootsydan

    bootsydan

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    I've seen a few different GP's, a naturopath and a couple of different specialists who have all asked for various tests over the years. The most recent tests that I mentioned above however were done through a GP in Brisbane who sees many CFS patients and is open minded to alternative tests and treatments.
     
  13. azzacalabaza

    azzacalabaza

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    @caledonia

    The brand of b12/folate I am using is Solgar.

    @bootsydan
    This GP did he arrange the hydrogen sulfide test?
     
  14. bootsydan

    bootsydan

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    I asked him for it and the others after doing research on these forums and the net, but it was a line of thinking he was not unfamiliar with, and was happy to do it. Due to the results of these tests however I am now going to do a Gut Bacteria test through Bio Screen, who send the kit up from Melbourne. So perhaps it would have been better just to do that from the start.
     
  15. caledonia

    caledonia

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  16. caledonia

    caledonia

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    There can be a honeymoon period of up to 6-8 weeks before methylation really kicks in. Assuming your Solgar is effective (see my other reply), my suggestion would be to stop supplementation until you can get some nicotinic form of niacin on hand. This will stop methylation in case you get into an overmethylation situation which is causing mood swings. Also get some hydroxycobalamin. Then restart at much lower doses. There's more information on this in the document Roadblocks to Successful Methylation linked in my signature. Also read Start Low and Go Slow.

    Since you've had mercury fillings, and haven't reported chelating out mercury (I don't know if liver flushes would be sufficient?), it's likely still in your body. When you get methylation going, the mercury will start to come out likely causing you to feel worse. If this happens, you will need to cut back on supplements until you can tolerate the symptoms. Don't worry, the mercury will still be coming out even if you can't feel it. Again, the nicotinic acid can be a godsend if you run into this problem.

    BCM01 - not sure. If it's a down regulation (and assuming it's expressed) usually what people have problems with is converting synthetic vitamins. If I'm reading correctly, you said your vitamin A is not deficient. So you would seem to be utilizing the vitamin A from foods ok. Is there a way to test retinol levels?
     
    Last edited: May 23, 2014
  17. caledonia

    caledonia

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    Detox results:

    Ok, now we're getting somewhere - you have MTHFR A1298C, the B12 double whammy (MTR + MTRR) and mercury exposure, which also effects MTHFR and MTR. And on your detox profile - two GSTP mutations. These will lower glutathione. No wonder you don't feel well... Doing a methylation protocol will also raise glutathione, so you don't need any change in strategy.

    Your other mutations:
    CYP1A2 = slow caffeine metabolizer
    CYP1B1 = possible estrogen dominance possibly causing estrogen related cancers such as breast, cervical, or prostate. You can eat cruciferous veggies or take the supplements DIM or IC3 (substances contained in the cruciferous veggies).
    CYP2D6 = detoxifies 20% of all prescription drugs including various psych drugs, opiates, beta blockers, etc. You could have problems with these drugs.
    NAT = detoxifies smoke and exhaust fumres. So don't smoke and avoid second hand smoke and exhaust fumes.

    The general advice is to avoid toxins and eat your fruits and veggies.

    Click on the Detoxigenomics link in my signature for a lot more detailed info, drug lists, etc.
     
  18. azzacalabaza

    azzacalabaza

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    @caledonia
    Thanks for all the wonderful info. The vitamin A issue is unkown really. I'd probably need to get tested. There haven't been too many studies in this area yet. I have am homozygous which is only in 5% of the population.

    Here is some information from http://ghr.nlm.nih.gov/gene/BCMO1

    How are changes in the BCMO1 gene related to health conditions?
    UniProt[​IMG] provides the following information about the BCMO1 gene's known or predicted involvement in human disease.
    Hypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD): A disorder characterized by increased serum beta-carotene, decreased conversion of beta-carotene to vitamin A and decreased serum vitamin A.[1][​IMG] The disease is caused by mutations affecting the gene represented in this entry.


    Here is another study done on female volunteers: http://www.lmreview.com/articles/pr...rease-susceptibility-to-vitamin-a-deficiency/
     
  19. azzacalabaza

    azzacalabaza

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    Do you think the CBS A360A needs to be addressed first before starting methylation support? It may be being made worse by my BHMT mutations. I have no idea at this time if my serum ammonia is high or normal. I hope to get it checked through my GP this week. That should rule out any upregulation issues I may have. I have also ordered the sulfate strips through amazon, but will take around 2 weeks to arrive here.

    I read your article "Roadblocks". Thank you for the time in writing it. I did experience some 'flu like symptoms' just recently. The rest of my family were sick at this time so I just thought I had what they had only their problems were stomach bug type of illness. I had all the sore joints/aches, chills and couldn't get out of bed. I have stopped supplementation, until I get the pyrrole test done on Monday.
     
    Last edited: May 24, 2014
  20. caledonia

    caledonia

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    Generally people with only CBS A360A don't need to worry about CBS, but with BHMTs in the picture, and a double mutation, it wouldn't be a bad idea to check for ammonia and sulfate first.
     

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