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Looking at my symptoms, many of which are far less these days and some are gone, it would be easy to figure that I'd just been dealing with some heavy-duty menopausal issues.
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SOD2 A16V homozygous mutation - anyone else?

Discussion in 'Genetic Testing and SNPs' started by Thinktank, May 11, 2013.

  1. Beyond

    Beyond 10% of discount in iHerb!--> PEZ915

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    It should have an impact in the mitochondria but I see your point. Taking the cofactors would be a good idea, especially since we are probably defficient. Lactoferrin its the preferred from of Iron for people like us that could have organisms that benefit from plain Iron. So far I have only find studies based in pharma substances targetting SOD at a mitochondrial level, but will keep searching.

     
    cigana likes this.
  2. Thinktank

    Thinktank Senior Member

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    This thread is getting interesting.
    Where can i find more info on SOD2 and iron? I thought only manganese is a cofactor or MnSOD(2)?
     
  3. jenbooks

    jenbooks Guest

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    She seems to have a different polymorphism.

    Re the A16, that's what I'm worried about. With a double deletion in c677t (making 60% less methylfolate and likely the same amount less glutathione?) AND a double deletion in A16, with 40% lower activity INSIDE my mitohondria, I've got some problems. I can take glotuathione IV and have for many years, along with meyer's vitamins that seem necessary to me (push amounts), but what can I do for my mitohondria. I don't see any hope unless I can get someone to encase SOD inside a liposome that penetrates the mitochondrial lipid bilayer or gets easily taken up by it.

    "The val16 allele disrupts the alpha-helix structure of SOD2 and causes the protein to be retained at the level of the mitochondrial inner membrane. The mutant protein has 30 to 40% lower activity and increases susceptibility to oxidative stress."[/quote]
     
  4. Thinktank

    Thinktank Senior Member

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    I have product lying around called toco-sorb from Jarrow formulas. I've had some succes with it, it mainly improved the condition of my skin and reduced inflammation and hair loss. Unfortunately it slightly increased my brain fog so i stopped using it.

    Do you know what the effects of tocotrienols are on mitochondria?

    Palm Tocotrienol-Tocopherol Complex (Tocomin SupraBio) 375 mg *
    Tocotrienols (d-alpha, d-beta, d-gamma, d-delta) 57 mg
    Vitamin E (as d-alpha tocopherol) 15 mg (22 IU) 73%

    γ-Tocotrienol Protects against Mitochondrial Dysfunction and Renal Cell Death
    http://jpet.aspetjournals.org/content/340/2/330.full
     
  5. alex3619

    alex3619 Senior Member

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    I know very little about tocotrienols. They are variants of vitamin E found in plants. There is almost no research on them. Most research is on alpha tocopherol, which is a very bad choice, yet because that is what is marketed and most hear about initially, I think it got the lions share of the research attention. Vitamin E in general is only one of five interlocking antioxidants. We need all five as I have already discussed. If you fix one link in the chain but not the others it will have less of an effect. Further it could put a drain on other antioxidants if you have way too much by itself ... but this is only speculation, I am not aware that anyone has done good research on this.
     
  6. jenbooks

    jenbooks Guest

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    I know a bit about them actually, having just written about them a few times. I would think your fogginess was related to fillers (glycerin etc) in softgels.

    A palm oil concentrate without fillers will be coming out from Jarrow soon and I"m going to try it. Tocotrienols are antioxidants, and good for the nervous system. I doubt they solve the SOD double deletion though.
     
    Thinktank likes this.
  7. Bluebell

    Bluebell Senior Member

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    LaurieL, I also have a homozygous ACAT1-02 (an "AA" result on 23andMe). What does this rare result mean, in relation to what you are studying?

    Did you say that you started a different thread on this topic?

    A few weeks ago I got a really high result on a CA-125 cancer tumor marker blood test -- next week I'm going to have a re-test to make sure the first one wasn't a fluke -- and I wonder if this estrogen metabolism information you are looking at in relation to the ACAT1-02 mutation might be relevant to my situation.

    [I don't exactly know what my situation is, at the moment. And I certainly don't know much about biochemistry or medicine. I also found out a few weeks ago that I have a Vitamin D deficiency, and had very low DHEA-s levels (both on a blood test and a saliva test) -- I have read that both of these deficiencies can point to cancer.]
     
  8. PDXhausted

    PDXhausted Senior Member

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  9. Bluebell

    Bluebell Senior Member

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    Thank you, PDXhausted.

    I had a look at what you put in your first post on this thread, and we share a lot of our genetic mutations - I think most of yours I have the very same of - but I have additional +/+'s and +/-'s to you.
    We are both +/- for this SOD thing, which I'm still trying to figure out what it is. :sleep:
     
  10. Bluebell

    Bluebell Senior Member

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    AlexINTP,
    Wow, I didn't know there was an antioxidant pentet! That is great to know.
    Is it best to take them all (all 5)?
    What would be the suggesting starting doses for each?
    Is there any concern about starting to take these 5 while one is also starting a low&slow version of a B12/folate methylation protocol (with those 2 supplements' being around Rich van Konynenburg's modest starting amounts)?
     
  11. alex3619

    alex3619 Senior Member

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    Hi Bluebell, all good questions, but without good answers. The point about a pentet, I think, is that low doses of them all are better than high doses of any one. In addition some are concerned about lipoic acid as it might move mercury around in the body. I personally am happy to take all five, but I don't go in for high doses. Low doses are fine. However with CoQ10 I suspect that we might need a lot ... or a very good source. I have only responded to one brand of CoQ10 with clear improvement in symptoms, and that brand is no longer available.

    Rich would have had no problem, I think, with something like this. Freddd might. Nobody is really sure, and it might be different for different people. What the pentet does is enable free radicals to be passed from inside the mitochondria, through the cell and into the blood, and finally get eliminated. Its a chain of chemicals, each passing the free radical onto the next.

    The pentet is primarily about oxidative stress. Other uses of glutathione might not benefit from the pentet much, except that I think it will help preserve glutathione levels.

    Bye, Alex.
     
  12. Bluebell

    Bluebell Senior Member

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    Thank you -- it helps to know that they are a chain moving something out and away - I can visualize that easily -

    ---
    Is the Ubiquinol version of CoQ10 the way to go?

    I went to a lecture by a cardiologist who had written a book (Sinatra I think) about 15 years ago, and he really encouraged folks to take CoQ10 for their heart health, so for the past 10 years or so I've been taking a very small amount of the cheap kind of CoQ10.

    However, I suspect, like everything else with my body, I'm not able to do much internally with the cheap and easy form, so I just bought some own-brand Ubiquinol from Swanson Vitamins at 50 mg, but I haven't opened the bottle yet, because I'm trying to introduce the supplements slowly on my new methylation program (and I haven't even gotten to adding B9 yet).

    ---
    Are any of the pentet contraindicated for someone who has hypothyroidism?

    I have in my notes that there is a concern about alpha lipoic acid and hypothyroidism - for those with thyroid issues, Dr. Ray Sahelian recommends no more than 25 mg of R-ALA (which I think is stronger than just ALA).

    R-ALA was pretty expensive, or maybe hard to get, when I was looking into buying my new set of after-starting-methylation supplements a month ago, so I bought the Swanson racemic ALA, 50 mg. I also haven't opened this bottle.

    ---
    About N-acetyl-cysteine, which I also bought recently (Source Naturals, 600 mg) and is also still unopened :), Dr. Sahelian wrote, "maybe take every other day," "can cause headache, dizziness and blurred vision."

    I'm worried about the blurred vision warning because I recently had optic nerve damage which makes my vision blurry. Have you noticed any effect on your vision from NAC?

    ---
    I am currently taking buffered C and Now Foods E-400 with 100% natural mixed tocotrienols, so I think I'm all set on the pentet.

    That's kind of amazing that I already have the supplies for something I see recommended on PR and want to try!
     
  13. anne_likes_red

    anne_likes_red Senior Member

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    I took PQQ for a few months last year. FWIW alex3619 it didn't help me at all with brain fog! That's one of my stickier symptoms!! I took it for it's promised mitochondrial biogenesis effect.

    I'm ++ for SOD2. I've been helped countless ways by regular cold therapy/exposure - whatever you like to call it - and one of the things it supposedly does is upregulate SOD2, (as well as mitochondrial biogenesis!) at least in the skeletal muscles...via the activation of pgc1-alpha.
    My HBOT practitioner told me years ago that therapy was upregulating SOD too...though I'm not sure now whether he meant SOD1 or SOD2.

    MIce studies alert ;)
    PGC-1α (strongly induced by cold exposure): a key regulator of energy metabolism http://advan.physiology.org/content/30/4/145.full
    Increased muscle PGC-1α expression protects from sarcopenia and metabolic disease during aging
    http://www.pnas.org/content/106/48/20405.long (SOD2 mentioned in the antioxidant defense section.)

    Best,
    Anne.
     
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  14. alex3619

    alex3619 Senior Member

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    What form of CoQ10 to take is debatable, as is dosage. Its not possible so far as I am aware to be very clear on form or dosage.

    Racemic mixes are typically 50% active ingredient, as they are an even mix of left and right twisting molecules. However the inactive form can interfere with the active form, at least in theory. So a 50mg tablet will have about 25mg of active ingredient, but it will not be fully active due to interference with its mirror image.

    I would like to see a study on the use of agents to boost mitochondrial numbers in ME. Its not really about numbers though, its about function. Would more dysfunctional mitochondria help? They might, they still produce some energy.
     
  15. LaurieL

    LaurieL Senior Member

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    Bluebell I usually work triple shifts on the weekends, so pardon my absence, I get a few moments here and there to check in over the weekend, concerning ACAT...

    My initial interest in ACAT stems from my medical history in which I have always experienced a very low cholesterol level and I seem to generate tumors in which are cholesterol based. ACAT interferes with the ability to break down and incorporate cholesterol esthers into the mitochondria as well, which affects the cell membranes of the mitochondria as well. When looking into this, I also discovered I have a string of mutations affecting estrogen/steriods of which I also have problems with. I also have problems with SHMT, and with these three, what I call the triple threat, I have shown to myself and my doc's, that these are connected and I offer the info to others.

    I know there are some here that disagree about the effect of ACAT, and I am not going to try to convince otherwise, but I disagree not because I have any studies to back me up, but I do have my own personal experience with treating this particular mutation in which I had a definitive cause and effect on my health. (my tumors)

    On the detox side of it, I have problems with CYP1B1 in which those links mentioned lead to heart fixer and to the connections to estrogen. He has detailed info in which these two figure into estrogen. I didn't see the need to reproduce it here, as he did such a good job of it already.

    LaurieL
     
  16. Bluebell

    Bluebell Senior Member

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    Thank you, LaurieL. You are incredible for working triple shifts, not to mention then participating on here in such a responsive fashion!

    I am sorry to hear that you have had some tumors.

    It's great that you have convinced your doctors to take your findings seriously.

    Even if there isn't much research-study evidence at the moment for something (ACAT or whatever), I would never disregard it, disregard people's personal experiences, or expect that the research picture would not change as knowledge advanced. Many things that appeared to be big deals to my body and mind were pooh-poohed by others, until such time as suddenly they became more of a deal to enough other people! :ill:

    I remember from one of my threads that Greenshots was surprised that I had a homozygous ACAT1-02, commented that Dr. Yasko would be interested to hear it, and suggested I post on the Yasko forums about it (in post 53 on this thread: http://forums.phoenixrising.me/inde...ul-for-some-guidance.23975/page-3#post-368359), but I have been trying to learn about and get a handle on my more immediate health issues first, plus I'm not familiar with the Yasko milieu and I probably wouldn't attempt to get involved with her forum, especially to talk about something I don't have the slightest understanding of! :oops:

    I don't have the SHMT1 mutation and I haven't looked at my detox genes yet (beyond the Sod2 from this thread, which I am heterozygous for).

    I have never noticed anything unusual about my cholesterol levels, but I don't understand much about the topic. My recent blood tests showed: HDL 66 mg/DL (reference range: to be over 39 is normal, to be over 59 is "a negative risk factor for CHD"), VLDL 15 mg/DL (reference range 5-40), LDL 111 mg/dL "HIGH" (reference range 0-99), T Chol/HDL Ratio: 2.9 (reference range 0.0-4.4). This is the first time I've had a "high" result from any of them.

    I won't continue diverting the thread from its main topic, and I thank everyone for responding to my various questions. :)
     
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  17. Thinktank

    Thinktank Senior Member

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    I'm about to start HBOT and am wondering if it increases ROS in someone with a double mutation in SOD2.
    I'm going to start the full mitochondrial antioxidant pentet as suggested by alex3619 because i have always noticed improvement on Q10, E and especially NAC.
     
    cigana likes this.
  18. jenbooks

    jenbooks Guest

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    Don't worry about the hbot and oxidative stress. Hypoxia of cells from CFS causes more oxidative stress. And HBOT session is an hour--it's not going to be dangerous. Take your antioxidants away from the hbot not to blunt the effect.
     
  19. Thinktank

    Thinktank Senior Member

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    I have a 3-session HBOT treatment scheduled for 3 consecutive days soon. I want to test if HBOT will help with my brain fog. If it helps then i'm going for 40 consecutive sessions.

    Wat do you mean by blunting the effect? Wouldn't antioxidants + HBOT equal less ROS than HBOT alone?
     
  20. jenbooks

    jenbooks Guest

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    Thinktank oxygen is the fuel of life and when it burns you get life so to speak but you also get by products of the fire ie reactive oxygen species. The body has defenses to clean those up ie antioxidants. The two are in balance optimally, in a feedback loop. Hyperbaric oxygen can be highly beneficial by pushing oxygen into damaged hypoxic tissues and helping to quell anaerobic infections. However one has to assume part of the benefit is through the reactive oxygen species it generates. Your body uses and even makes those to fight infections ie ozone or peroxide are made by your own cells. Therefore don't take antioxidants on the day of treatment or at the very least have treatment early and take antioxidants at night.

    I would like to address the alpha tocopherol bashing. It's very important and the body has a special carrier for it. It's just not the only one. There are four tocopherols and four tocotrienols in the vitamin e family. Supplements traditionally only had alpha which is not how nature does it
     

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