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05-02-2017, 08:23 AM | #11 | ||
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Are you looking though your whole exome test or a 23and me? |
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05-02-2017, 07:01 PM | #12 | |||
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My whole exome.
As best I understand things, the only data I can see in my whole exome are the variants that have publicly available reports in ClinVar on them. ClinVar is maintained by NIH. Introduction - ClinVar - NCBI Based on the information Genos provides, the average person has millions of variants. So in the end, I'm only seeing a minuscule amount of information, but it's the only meaningful information there is. What I haven't figured out is whether there would be a way for me to see a SNP with no public information if I really wanted to. I can do that on 23andme, but I don't know if I can to that on Genos, and obviously Genos has processed a ton more of my genome. Last edited by janieg; 05-02-2017 at 07:42 PM. |
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05-04-2017, 06:43 AM | #13 | ||
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05-04-2017, 07:00 PM | #14 | |||
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I had my whole exome done by Genos which was just recently purchased by another company:
Genos - Own your DNA, Learn about Yourself, Drive Research I'm still figuring out what data I have, and what data I don't have. I realized last night as I going over all my pathogenic mutations that some variants from 23andme are missing, and they're not just missing from the pathogenic category, but they don't appear to be anywhere. I thought they were well-documented, but if they don't have reliable reports (as deemed by Genos' sources), I won't see them. Still working on understanding that and making sure I'm searching my results properly. The cost is $499, but I got a deal late last year for $350. |
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"Thanks for this!" says: | madisongrrl (06-17-2017), mrsD (05-04-2017) |
05-04-2017, 07:28 PM | #15 | |||
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Healthgirl,
Have you uploaded your 23andme data to other sites like Promethease or Livewello? Can't remember if we've talked about that before. Promethease especially is reporting additional information, and Livewello provides all methylation results nicely. Last edited by janieg; 05-04-2017 at 11:21 PM. |
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06-17-2017, 12:11 PM | #16 | |||
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Just thought I'd post on my status having started taking biotin supplements, and then about three weeks ago, switching to a more expensive type recommended by the Biotinidase Deficiency expert for his patients with full-blown deficiency.
It was by no means a cure, but my symptoms have improved. My bad days are no longer hateful, and possibly are even on par with what my good days used to be. The wholly weird "rushes" I was having steadily have also waned. I'm trying not to get too excited about the improvement because I always wax and wane, but this seems like a prolonged wane. The other interesting thing is that I've lost about 17 pounds without trying hard at all. Right about the time my neuropathy hit, I started gaining weight like crazy. I was attributing it to entering menopause as I've heard horror stories, but at this point, I'm second-guessing the cause. Biotin is very involved in metabolic processes. The other thing I've learned in my reading is that the gut is very involved "biotin uptake." I keep going back to the fact that all my problems started when I horrifically insulted my gut with iron supplements I was taking due to very low ferratin levels. I haven't been right since, and my neuropathy hit about three months after that. Maybe a coincidence, but I'm beginning to wonder. Here's a good article on biotin uptake in the gut. Cell and Molecular Aspects of Human Intestinal Biotin Absorption I can't help but notice this line in the write-up: "An important characteristic of the human intestinal biotin uptake process is that it is also utilized by 2 other structurally and functionally unrelated nutrients, namely pantothenic acid and lipoate." Pantothenic acid is Vitamin B5, and unless I'm misreading things, lipoate is lipoic acid. I've been taking R-Lipoic Acid since 2014 and have always been quite convinced it improved the initial horrific nature of my symptoms. Maybe this helps explain why. So bottom line, I'm feeling better with having POSSIBLY found part of the problem. I'm not cured, but I'm doing better, and I'm so hoping the rest of you can find similar relief. I can't edit my original post, so I'll just post this here... The primary genetic mutation we're talking about here is found in only about 1 of 120 Caucasians. The prevalence of profound deficiency is 1 in 61,000. ______ Last edited by janieg; 06-17-2017 at 03:22 PM. |
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06-17-2017, 02:50 PM | #17 | |||
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Wisest Elder Ever
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This GI issue involves the multi vitamin transporter. This is why
I suggested to you to space your biotin at another time of day. I have yet to understand this transporter .. try using it as a search keyword on Google. I am on a small tablet and can't do this easily currently.
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All truths are easy to understand once they are discovered; the point is to discover them.-- Galileo Galilei ************************************ . Weezie looking at petunias 8.25.2017 **************************** These forums are for mutual support and information sharing only. The forums are not a substitute for medical advice, diagnosis or treatment provided by a qualified health care provider. Always consult your doctor before trying anything you read here.
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"Thanks for this!" says: | janieg (06-17-2017), madisongrrl (06-17-2017) |
06-17-2017, 04:34 PM | #18 | |||
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I'm reading about the SMVT (sodium-dependent multi vitamin transporter), and I might as well be reading Chinese for all I'm understanding.
Tried reading through one research article that was focused on biotin and the SMVT, and at the end, it effectively said, "Yeah, we don't understand the body's biotin requirements very well." Quote:
Last edited by janieg; 06-17-2017 at 08:37 PM. |
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06-18-2017, 10:40 PM | #19 | |||
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"Thanks for this!" says: | mrsD (06-19-2017) |
06-19-2017, 02:29 PM | #20 | |||
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I did most of my searching a few years ago about the MV transporter. We had a poster here who used ALA and B5 alot every day, and so I did find that link to biotin also being unable to be absorbed or transported in the GI tract, when the transporter is filled.
After some searching for you, I found that Iodide has been added. All of the supplements seem to be microgram quantities in food. In fact, ALA is almost non existent from food sources. So the logic follows for me at least, that in order to get good biotin absorption and transport, the others should not be in high doses. Just 100mg of ALA which is a small dose compared to the studies for neuropathy which are hundreds of milligrams, would overwhelm this transporter. So you could try just not using the R-lipoic acid at all for a month, and see if you note any changes? That might open up the transporter to move your biotin to the tissues better?
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All truths are easy to understand once they are discovered; the point is to discover them.-- Galileo Galilei ************************************ . Weezie looking at petunias 8.25.2017 **************************** These forums are for mutual support and information sharing only. The forums are not a substitute for medical advice, diagnosis or treatment provided by a qualified health care provider. Always consult your doctor before trying anything you read here.
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