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MitoSwab mitochondrial function testing

Discussion in 'Diagnostic Guidelines and Laboratory Testing' started by Learner1, Apr 26, 2018.

  1. Learner1

    Learner1 Forum Support Assistant

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    A few weeks ago, I’d mentioned that I was doing some mitochondrial testing and would post when I had gone through the process successfully with the company, named MitoSwab. They have a cheek swab kit, that they have published results showing an 84% correlation with muscle biopsy, and a lot cheaper ($300) and less invasive. @BeautifulDay checked it out and she thought it might be a very useful test. It can be used iteratively, making interventions, then retesting to optimize function.

    It took a while, as when I first talked with them, they were only testing complexes I and II. My reasoning for doing it was that I have had issues with very low/no succinate in my Krebs cycle, and I have been short of riboflavin. Both of these are used in complex II.

    I also feel a muscle drain during exercise, either while attempting aerobic exercise or if I have a long period of being active (for me). Napping allows me to recharge, so it’s seemed like an energy problem. Tests have consistently found very high levels of oxidative stress... low glutathione,alpha lipoid acid, and vitamins A, C, and E, but my CoQ10 runs a little high and doesn’t seem to get used up.

    I asked if they had ever done complexes II and III, and they said no, but they agreed to try it on me. I became their very first patient to get the full report. @Jesse2233 was the second and he posted about his experience in his thread. His results were easier than mine to digest.

    http://forums.phoenixrising.me/inde...t-and-photopheresis.50260/page-18#post-972924

    Part of the reason that getting my results took so long was that my results were more bizarre than they expected. They expected to see low complex I and high complex IV as they’ve seen in other ME/CFS and autistic patients.

    The first surprise was that I have low mitochondrial content, which is not good. This is calculated from citrate synthase.

    The second was that complex II was almost 400% of normal, which would generate a huge amount of free radicals. They did II and III together, and they were almost 200% of normal, again showing huge oxidative stress.

    And my results for complex I were less than 50% of normal, while complex IV was again almost 400% of normal.

    My results for Phase II are typical of cancer patients, and I was treated for cancer 3 1/2 years ago. The drugs I was on are known to impact complexes I and II. But this type of oxidative stress can combine with NO in the absence of enough superoxide dismutase, to impair mitochondrial function and damage membranes, and lead to future cancers, which I’d like to avoid.

    And low complex I has been associated with neurodegenerative diseases, sepsis, and many other illnesses of aging.

    So, it’s taken me awhile to digest my results, and I am looking at what I can do. On the one hand, I’ve already been doing many of the things I can to attack this, and my labs and function are better than a year ago, but it’s obviously not enough.

    And, there are only a small handful of specialists in the US, most of whom seem to be treating children with primary (genetic) vs. secondary (acquired) mitochondrial disease, so it’s difficult to get help. I have the antibodies that Alan Light found in many patients, finding various mitochondrial mutations in virtually all of them. So, it could be that I have both primary and secondary mito disease.

    So, it was a valuable test for me, and I would highly recommend it to others, with the caveat that once you do it, you will need someone who understands mitochondria and metabolomics to help you. Having my Genova Diagnostics NutrEval test results plus the MitoSwab results together lets us correlate the oxidative stress piece, but there are a couple of other tests that will be helpful in figuring out what’s going on, primarily looking at the NO/ONOO- and BH4 dynamics. And then, coming up with a more refined cocktail of injectible and oral supplements will be needed to optimize my function, as there aren’t any FDA approved drugs for mitochondrial disease, it’s typically nutrients to feed the biochemistry.

    But though I got bad, even scary, news, this is a promising area, and one that I believe many of us can benefit in finding answers.
     
  2. echobravo

    echobravo Keep searching, the answer is out there

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    Thank you so much for sharing, @Learner1, and for researching - and publishing! - about these tests.
     
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  3. dreampop

    dreampop Senior Member

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    What tests did you use to find hte mitochondrial antibodies/mutations? Did you get a biopsy?

    Sorry to hear your mixed new, I did see a top genetecist but they ran a few tests and were eager to see me out without a biopsy or exploration. There are very few, and when they do see adults it usually for very rare, severe genetic disease. I don't know what kind of doctor would want to work through this grey area and also be an expert in it.
     
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  4. Learner1

    Learner1 Forum Support Assistant

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    MitoSwab has developed a buccal (cheek) swab test that is 84% correlated with a muscle punch biopsy, which is a painful, invasive, expensive test.

    The test looks at mitochondrial content and the ability of each complex to function for complexes I-IV. It doesn't look at ATP synthase, though.

    To find out mutations, one would have to do a genetic test. But this type of result might help justify the need for the genetic test for insurance, as the genetic tests were several thousand dollars last time I looked.
    When I got stage 3 cancer, I was sent to a geneticist. I took him my weird labs and 23andme reports. All he cared about were 4 genes for Lynch syndrome, that I didn't have, and shooed me out the door. I learned a lot more about my genes from my naturopathic doctor and we believe some may have led to my cancer.

    Most mito specialists work out of children's hospitals and see mainly pediatric patients. There are mitochondria and metabolism labs, but few see real patients. But I agree there is a huge need for diagnosing primary or secondary mitochondrial disease in adults and then personalizing treatment consisting of nutrient protocols depending on results of tests like these.

    There's plenty of research that implicates mitochondria in many diseases. It just hasn't hit mainstream medicine yet.
     
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  5. lafarfelue

    lafarfelue Senior Member

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    Sorry about the bad news. Hope you're emotionally feeling relatively ok with more time to digest the info.

    And whoa, this is amazing! Very valuable information you can take action on!

    It's late (for me) so I'm brain foggy, but I'm going to reread your post when I'm feeling less so. Thanks so much for sharing, this is cool. I'm curious about what 23andMe might uncover for me (though am not getting my hopes up too much). It's really good to know what steps I might be able to take next.

    Looking forward to hearing more about how you're going. :)
     
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  6. nanonug

    nanonug Senior Member

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    Consider supplementing with pyrroloquinoline quinone. It is purported to enhance mitochondrial biogenesis. It is part of my protocol for exactly this reason.
     
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  7. tiredowl

    tiredowl

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    Does this deplete glutathione? Wouldn't that be bad for us?
     
  8. Learner1

    Learner1 Forum Support Assistant

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    I have. It did nothing for me. I don't seem to be using up CoQ10 very fast either, which was why I thought there was a problem.

    Or are you on some massive dose?
     
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  9. Learner1

    Learner1 Forum Support Assistant

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    I look at it more as actionable news. Emotionally, I'm more affected when I don't know what is going on and there's no problem to solve. I actually feel good that there's a smoking gun here...
    Bingo! It will be challenging, but the scientist I talked to there told me about nutrient interventions some patients had done based on their results and the improvements they'd experienced. Its definitely something that needs to be individualized, just as it found st the mitochondria disease conference of gone to, where patients were on individualized doses of CoQ10, carnitine, and other nutrients.
    I think 23andme is a good place to start. It doesn't have everything but its cheap and has some good info. I found I have hereditary hemochromatosis from my 23andme data which explained my high ferritin levels and got me treatment.
    I'll plan to update this thread as I find answers.
     
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  10. wigglethemouse

    wigglethemouse

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    This site advertises sequencing for $499.
    https://genos.co/sequencing.html

    I saw the kit in this OMF tweet picture of Ron Davis's desk
     
  11. nanonug

    nanonug Senior Member

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    PQQ is a free radical quencher: it therefore protects against damage by free radicals. When PQQ quenches a free radical, it gets reduced to PQQH2. PQQH2 gets recycled back to PQQ by glutathione. In this sense, PQQ "wastes" glutathione. Of course, this is not a problem because you want to get rid of those free radicals in the first place. The glutathione is therefore not being "wasted", it's doing exactly what it is supposed to be doing.
     
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  12. nanonug

    nanonug Senior Member

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    I take 20mg of PQQ a day (10mg BID). I don't consider this a massive dosage. I also take 400mg/day of ubiquinol (200mg BID). Based on a couple of studies I've read, 400mg of ubiquinol corresponds basically to 800mg of uboquinone in terms of bioavailability.

    CoQ10 is a free radical scavenger. I don't know if there is a possibility of its being "used up" for this purpose before it even has a chance to work its magic in the ETC.
     
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  13. Learner1

    Learner1 Forum Support Assistant

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    I have been on similar doses of both and have noticed no benefit and CoQ10 keeps coming up high on my tests.

    There seem to be a lot more variables affecting each complex as I've dug into the problems. Attached are papers describing some of the issues.

    Wishing there were a clinic specializing in teasing out the issues individually and customizing treatment.
     
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  14. nanonug

    nanonug Senior Member

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    Yeap, it's complicated! Do you have OAT results you'd be willing to share?
     
  15. Learner1

    Learner1 Forum Support Assistant

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    I'll get them in a couple of weeks.
     
  16. Learner1

    Learner1 Forum Support Assistant

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    The issue is that free radicals are created in the form of superoxide. If superoxide dismutase is inadequate and NO is present, there is an instantaneous reaction to peroxynitrites, which impair function of mito complexes, creating a vicious cycle, as well as damaging mitochondrial membranes, causing leakage, and lessening the energy potential.

    More glutathione and recycling of glutathione can definitely help, but there are other ways of doing this than PQQ. PQQ can be useful, but its too larecin the game in some situations.

    The devil is in the details - it's figuring out the status of all the variables in the equations andctweaking them to individualize and optimize a program for each individual, based on genetics, environmental factors, and metabolomics status at each point in time.
     
  17. Gingergrrl

    Gingergrrl Senior Member

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    You two are trailblazers LOL. I am afraid even if I figured out how to do these tests, that I would end up with a bunch of information and have no idea how to interpret any of it (or what to do with it)?

    That was my thought and most of the Mito doctors I have heard of work with children, or occasionally with adults up to age 26 but not people in their 40's like me.

    How do you find someone who understands mitochondria and metabolomics?

    So the cheek swab is considered 84% reliable vs. a muscle biopsy is 100% reliable (or do you mean something else)? Would the cheek swab be useful for illnesses that they recommend a muscle biopsy that are not Mito illnesses (like autoimmune disease)?
     
  18. Learner1

    Learner1 Forum Support Assistant

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    I'm still not cured, and there's something still going on. Its either listen to the doctors who told me to go to psychotherapy when I was ill, or continue uncovering clues to find out what's going on to fix it.
    There are a few doctors out there who do.
    The purpose of a muscle biopsy is to harvest mitochondria and test to see how functional they are. It requires punching one or more holes in your thigh to collect the tissue, which is painful and expensive.

    The cheek biopsy results correlate 84% with the muscle biopsy results. So, though they are not the same, one can hopefully get a gauge on the quality of mitochondrial function in a more inexpensive and less invasive way.

    This is useful for finding out how well each task (complex) in the mitochondrial electron transport chain is doing its job, and whether energy production is compromised or whether too many reactive oxygen species are being created, which can cause damage. Environmental factors like Epstein Barr, mold, and nutrients like folate or CoQ10 may impact this function. I am not sure about autoimmunity.
     
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