adreno
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Well, I would at least open the caps and mix the powder with oil. The gut does not absorb crystals. Bioperine is probably fine, but I don't want to mix it with any drugs or other supps I'm taking.
Rare Coenzyme Q10 gene variations in ME patients
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adreno
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If there are no studies on them, I'd give them a miss.
I swear by COQ10, I always felt good on it even the first time I tried it, Brand and Type (gel vs pill) makes a difference. I am at 800mg to 1200mg (It lowers by blood pressure so I go as high as BP permits).
I did not do as well on Ubiq. The active form, I actually posted in a forum and for some reason for CFS COQ10 does better. I have a thread going on the experiment.
I did not do as well on Ubiq. The active form, I actually posted in a forum and for some reason for CFS COQ10 does better. I have a thread going on the experiment.
The gel I take is the Kaneka brand. That's not to say the ubiquinone form is inferior as the article @adreno posted. My only concern is that with ME illness we may have different absorption issues, redox, enzyme impairment etc problems than the normal population.
They tested people with "tiredness and fatigue". FWIW
http://www.kaneka.co.jp/kaneka-e/news/index.php?c=topics_view&pk=1396330837
http://www.kaneka.co.jp/kaneka-e/news/index.php?c=topics_view&pk=1396320147
They tested people with "tiredness and fatigue". FWIW
http://www.kaneka.co.jp/kaneka-e/news/index.php?c=topics_view&pk=1396330837
http://www.kaneka.co.jp/kaneka-e/news/index.php?c=topics_view&pk=1396320147
Ema
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There is at least one study. I will look for the link but I remember posting it in another thread.
I wonder if the gene that is more often compromised in our population has anything to do with the conversion back and forth between the oxidized and reduced forms? Or is it in the production itself?
http://www.ncbi.nlm.nih.gov/pubmed/21086475
this is also interesting
http://www.ncbi.nlm.nih.gov/pubmed/19096107
this is also interesting
http://www.ncbi.nlm.nih.gov/pubmed/19096107
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I was wondering that too ... but it looks like the conversion happens as part of a pretty complicated process involving dozens of genes. I think I have the full list of those genes now, and will look to see if we have rare SNPs on them. It might take a while
In related news, we're getting a proper PC set up for me, so I'll have decent processing power and memory. It should make it a lot easier for me to play around with 23andMe data. Currently it takes about 5 minutes on my laptop just to open an Excel sheet with the data for 12 patients and 12 controls.
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These work out cheaper then those - http://www.iherb.com/Doctor-s-Best-CoQ10-with-BioPerine-100-mg-120-Softgels/10930
Snowdrop
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I've used CoQ in the past but only ever 100mg along with various other supplements at the same time so I have nothing to offer re efficacy (I used a ubiquinol softgel). But I think for those here who are currently experimenting it might be an idea to try mixing the two types to see if there is a benefit there over using them independently.
Leopardtail
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The one thing that needs to be understood about CoQ10 is that it is fat soluble. That means it needs to be taken either in an oil capsule, or with a fatty or oily meal.
*GG*
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Leopardtail
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Guessing so yes. if they were the same capsule the fish oil could degrade the CoQ10 though....
Here's the rest of the data for the genes involving CoQ10. I'm not sure exactly what all of the genes use, just that it involves the electron transport chain, which is involved in cellular respiration. I'll try to read up on it some more
The data is for 12 ME patients and 12 controls. They're now in a different order than previously, so P1 (Patient 1) in this chart doesn't match up with P1 in previous charts. The controls are now matched based on mitochondrial haplotype, which is a decent approximation for ethnicity. Hence each patient now has a matched control of the same or very similar haplogroup, so normal ethnic variations shouldn't be interfering with the results. Matched patients and controls are in the same position on each side of the graph: hence P1 and C1 are matched, P2 and C2 are matched, and so on.
Purple boxes mean the genotype is calculated as being present in less than 1% of the general population, red is 1 - 2.5%, orange is 2.5 - 5%, and yellow is 5 - 10%. Bold red text for SNP numbers indicates a missense mutation, and purple text indicates a known pathogenic missense mutation. Green boxes are for results which are over-represented in the ME group, though at 10 - 15% prevalence in the general population rather than 10% or under.
There's not much difference overall, except in NDUFA1 and NDUFA9. rs1801316 (NDUFA1 G32R) is known to be a pathogenic missense mutation even when heterozygous, which causes levels of something to be reduced by variable amounts. It doesn't cause problems until some years after birth, though I haven't found any cases of onset in adults.
But the problems caused can be pretty serious - cognitive and motor dysfunction, as well as a variety of: seizures, ataxia, vision and hearing impairment, vomiting, somnolence, and increased plasma lactic acid. The data and links to the research are at http://omim.org/entry/300078#0003 . One case was pretty mild and only symptomatic when other illness was present. The ME patient with that mutation has been informed about it.
rs4148974 (NDUFV3 R200X) is also potentially interesting. No one really knows what the hell the gene does, aside from being involved with ubiquinol and the electron transport chain, but that mutation very prematurely terminates the enzyme created by the gene. Though that gene might be redundant, possibly with other genes creating the same or a similar enzyme as well.
The MT-CYB mitochondrial gene is somewhat amusing, because the results are completely dependent on haplogroup. The patients and the matched controls have exactly the same results, meaning none of the variations are likely to be significant.
The data is for 12 ME patients and 12 controls. They're now in a different order than previously, so P1 (Patient 1) in this chart doesn't match up with P1 in previous charts. The controls are now matched based on mitochondrial haplotype, which is a decent approximation for ethnicity. Hence each patient now has a matched control of the same or very similar haplogroup, so normal ethnic variations shouldn't be interfering with the results. Matched patients and controls are in the same position on each side of the graph: hence P1 and C1 are matched, P2 and C2 are matched, and so on.
Purple boxes mean the genotype is calculated as being present in less than 1% of the general population, red is 1 - 2.5%, orange is 2.5 - 5%, and yellow is 5 - 10%. Bold red text for SNP numbers indicates a missense mutation, and purple text indicates a known pathogenic missense mutation. Green boxes are for results which are over-represented in the ME group, though at 10 - 15% prevalence in the general population rather than 10% or under.
There's not much difference overall, except in NDUFA1 and NDUFA9. rs1801316 (NDUFA1 G32R) is known to be a pathogenic missense mutation even when heterozygous, which causes levels of something to be reduced by variable amounts. It doesn't cause problems until some years after birth, though I haven't found any cases of onset in adults.
But the problems caused can be pretty serious - cognitive and motor dysfunction, as well as a variety of: seizures, ataxia, vision and hearing impairment, vomiting, somnolence, and increased plasma lactic acid. The data and links to the research are at http://omim.org/entry/300078#0003 . One case was pretty mild and only symptomatic when other illness was present. The ME patient with that mutation has been informed about it.
rs4148974 (NDUFV3 R200X) is also potentially interesting. No one really knows what the hell the gene does, aside from being involved with ubiquinol and the electron transport chain, but that mutation very prematurely terminates the enzyme created by the gene. Though that gene might be redundant, possibly with other genes creating the same or a similar enzyme as well.
The MT-CYB mitochondrial gene is somewhat amusing, because the results are completely dependent on haplogroup. The patients and the matched controls have exactly the same results, meaning none of the variations are likely to be significant.
Leopardtail
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That looks interesting, I will have to look again when I no longer have 'sunday morning brain'.Here's the rest of the data for the genes involving CoQ10. I'm not sure exactly what all of the genes use, just that it involves the electron transport chain, which is involved in cellular respiration. I'll try to read up on it some more
The data is for 12 ME patients and 12 controls. They're now in a different order than previously, so P1 (Patient 1) in this chart doesn't match up with P1 in previous charts. The controls are now matched based on mitochondrial haplotype, which is a decent approximation for ethnicity. Hence each patient now has a matched control of the same or very similar haplogroup, so normal ethnic variations shouldn't be interfering with the results. Matched patients and controls are in the same position on each side of the graph: hence P1 and C1 are matched, P2 and C2 are matched, and so on.
Purple boxes mean the genotype is calculated as being present in less than 1% of the general population, red is 1 - 2.5%, orange is 2.5 - 5%, and yellow is 5 - 10%. Bold red text for SNP numbers indicates a missense mutation, and purple text indicates a known pathogenic missense mutation. Green boxes are for results which are over-represented in the ME group, though at 10 - 15% prevalence in the general population rather than 10% or under.
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There's not much difference overall, except in NDUFA1 and NDUFA9. rs1801316 (NDUFA1 G32R) is known to be a pathogenic missense mutation even when heterozygous, which causes levels of something to be reduced by variable amounts. It doesn't cause problems until some years after birth, though I haven't found any cases of onset in adults.
But the problems caused can be pretty serious - cognitive and motor dysfunction, as well as a variety of: seizures, ataxia, vision and hearing impairment, vomiting, somnolence, and increased plasma lactic acid. The data and links to the research are at http://omim.org/entry/300078#0003 . One case was pretty mild and only symptomatic when other illness was present. The ME patient with that mutation has been informed about it.
rs4148974 (NDUFV3 R200X) is also potentially interesting. No one really knows what the hell the gene does, aside from being involved with ubiquinol and the electron transport chain, but that mutation very prematurely terminates the enzyme created by the gene. Though that gene might be redundant, possibly with other genes creating the same or a similar enzyme as well.
The MT-CYB mitochondrial gene is somewhat amusing, because the results are completely dependent on haplogroup. The patients and the matched controls have exactly the same results, meaning none of the variations are likely to be significant.
Obvious question springs to mind: how do PWME and controls compare if one counts total mutations? The body may well tolerate single mutations but not multiple.
Genetics is an area where I have only a 'novice understanding' being more knowledgeable on energy metabolism + Endocrinology (clinically and functionally). I would love to see some kind of 'potted summary' of what is (or isn't) known about these genes.
The same thought occurred to me re MT-CYB it's good to know what to rule out too though. It's a shame the sample size was so small though. Since ME is likely to be a disease cluster (not a single disease) I would expect repetition to occur only as numbers go up and only within sub-groups.
I just noticed NDUFAF4 shows almost perfect seperation of PWME vs controls.
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Leopardtail
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I remember that all too well, I ad to build a new PC last year - the old one was so slow trying to use it aggravated my ME. The table you showed later, was that from a study, or your analysis of 23andME data?I was wondering that too ... but it looks like the conversion happens as part of a pretty complicated process involving dozens of genes. I think I have the full list of those genes now, and will look to see if we have rare SNPs on them. It might take a while
In related news, we're getting a proper PC set up for me, so I'll have decent processing power and memory. It should make it a lot easier for me to play around with 23andMe data. Currently it takes about 5 minutes on my laptop just to open an Excel sheet with the data for 12 patients and 12 controls.
Agreed, which is why I'm looking at entire groups of genes together which are involved in a similar function, instead of just looking at single SNPs or genes in isolation. Though I do look at single rare SNPs we have in common, and want to do some more efficient sorting of rare gene results too for the entire file.
Yeah, that helps! But I don't know much about these genes precisely, just what I mentioned above: they involve ubiquinol and the electron transport chain, which seems to be required for cellular respiration and/or energy.
Yes, that's something I want to work on. I have 3-4 or more newer sets of 23andMe data from ME patients, and tons of older controls sets, but I can't combine it with the older version I have for the 12 ME patients shown above. My laptop simply doesn't have the CPU power, memory, hard drive space, or good software to do it.
If I separate out alleles from the genotype to make manipulating the data easier, Excel pretty much bursts into flames. It either hangs for 10 minutes to apply a formula to a column, or it flat out refuses to perform the operation and then can't be saved at all until I reboot.
My laptop is falling apart a bit anyhow, so my fiance is working on getting me a very fast PC assembled. But it's costing a fair bit of cash, which we currently have to pay toward medical expenses while waiting for the insurance company to reimburse us (or not). If they decide not to, my parents will give us the cash, but until that decision is made by the insurance company, I have to wait
But there will be a better PC in the next month or two ... 8 core 3.5GHz CPU, a good-sized solid state hard drive, and 16GB memory. It'll be fast Yes, that's why I left that one in, even though it's not quite rare enough to meet my usual standards. "CT" at rs3822662 has a calculated prevalence of 12.5% in the general population, but we have it at 75% and the controls have it at 8.3%. Nothing is known about the SNP, so maybe it's just random coincidence. But then again, maybe not
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