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SOD2 A16V homozygous mutation - anyone else?

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

  1. roxie60

    roxie60 Senior Member

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    yes I am homozy SOD2 A16V
  2. roxie60

    roxie60 Senior Member

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    about ??? , do u have a link
  3. roxie60

    roxie60 Senior Member

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    PQQ is in the complex B vit I am taking.
    What kind of effects? I was put on estridiol patch in March this year to address really low hormones. I started at .0145, thn .025, now .0375. What I have noticed since March is I am getting more sleep alothough i still wake up tired, sometimes fatigued. But grateful for the sleep.
  4. Beyond

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

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    I have just purchased Jiaogulan, an adaptogen well documented to increase SOD substancially among with other antioxidative markers. We will see but I would say this will be my "SOD supplement" since also helps with adrenal fatigue and sleep. http://en.cnki.com.cn/Article_en/CJFDTOTAL-XNYB199904001.htm
  5. LaurieL

    LaurieL Senior Member

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    roxie60 likes this.
  6. jenbooks

    jenbooks Guest

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    I have a double deletion in c677T and a double SODA16v deletion. How can I support the latter? I already get IV glutathione for the former (not FOR the former, I've gotten it for years because it helped). I am not sure I"m too keen on a fullerene in olive oil, who's to say whether it works, gets taken up by the lipid membrane of the cell which is not monounsaturated, and whether there are side effects. Telling me to eat well seems reductive, is there any way I can support my weak pathway? Not sure taking manganese and iron is a good idea either.

    These two double deletions explain quite a bit along with some bad luck and bad ticks.
  7. roxie60

    roxie60 Senior Member

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    I'm still trying to find info on the potential impact of SOD2.

    Code:
    SOD2    Rs2758331    AA    +/+
    SOD2    Rs2855262    CT    +/-
    SOD2 A16V    Rs4880    GG    +/+
    
  8. Valentijn

    Valentijn Activity Level: 3

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    The first two don't have any info showing that they cause any problems. And it sounds like the GG/CC version (alanine) of rs4880 is the better version to have in most studies.
  9. roxie60

    roxie60 Senior Member

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    SOD2 A16V rs4880 GG - G is the risk allele
    SOD2 rs2758331 AA - A is the risk allele

    I have no doc on the source for the risk allele info, just came from a report I was looking at. I cant recall where I got the other SOD as being significant
  10. Valentijn

    Valentijn Activity Level: 3

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    All I can find for the rs2758331 is that it's not associated with lung cancer in a study that looked at it. There's nothing I can find that show's it's associated with any risk. Rs2758331 and Rs4880 as part of a larger haplotype aren't associated with hearing loss with the combination that you have. Rs2758331 is also not associated with myelomeningocele, nephropathy in chronic kidney disease, or various cancers.

    For rs4880 there is a missense mutation. But some sources say it's an alanine to valine mutation, and some say it's a valine to alanine mutation. In either case, it's unlikely to cause major problems, since all versions are very common. A summary of the research at http://omim.org/entry/147460#0001 . Basically one of the smaller study says GG has slower enzyme activity, and every other study says that GG has better enzyme activity and less risk associated with it.
    roxie60 likes this.
  11. jenbooks

    jenbooks Guest

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    There is literature on the variant I have, with higher risk in studies (Fruit flies, mice),, shorter life span cancer and cardiovascular. That is the gene that helps you turn toxic superoxide into oxygen and water, inside your mitochondria. It is very hard to get superoxide dismutase into the mitochondria--unless you encased in the right liposome I think.
  12. jenbooks

    jenbooks Guest

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    I asked to watch this thread with notifications, but did not get any.
  13. Beyond

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

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    jenbooks Juicing vegetables must be the cheaper and best alternative to combat oxidative stress IMO, especially the most antioxidant veggies like red cabbage (high ORAC value) -- unless you are a CBS mutant of course (like me!... Shit :rofl:) . But there are other ways to support SOD activity such as herbs/mushrooms like Jiaogulan, Ashwagandha, Maca, all of them with studies backing up SOD activity increase. I juice 700 mls of veggies daily and I am starting to look better than before "crashing". I also juice fresh ginger root which its amazing, you have to get creative.
  14. jenbooks

    jenbooks Guest

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    Beyond, that's not really going to work because the antioxidants will be generally absorbed and not preferentially into the mitochondria. And the cell's fate depends on the mitochondria. Antioxidants would likely have to be encased in the right liposome with a lipid makeup like the mitochondria itself, in order to get into the mitochondria directly. However, perhaps supporting the substrates would help, but I'm not sure (manganese, iron).
    cigana likes this.
  15. PDXhausted

    PDXhausted Senior Member

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    Jen- I have SOD2 rs4880 +/-, and estrogen strongly related to my symptoms. I just wanted to mention that I did see a huge improvement in my symptoms when I was on a high dose (100mg+) of oral iron supplement. I have no evidence that that was related to SOD2, but I do wonder. The obvious explanation is that low iron was itself contributing to my symptoms, but I don't think this is solely the case, because after lowering the iron supplement dose I was taking, all my symptoms gradually returned, despite the fact that all my iron markers were at or above normal levels (ferritin, serum iron, saturation, etc) and I was still taking the RDA for iron. I also found a study that seemed to imply that iron intake stimulated GSH production, probably to help protect against the oxidant effects of the iron, so it could have been increased GSH rather than SOD, that improved my symptoms. Or maybe neither :) Who knows!

    That said, it is probably not healthy to take huge doses of iron for the sole purpose of increasing antioxidant production, and I also developed reflux from it. I haven't tried manganese, but I am curious about it.
    cigana and jenbooks like this.
  16. PDXhausted

    PDXhausted Senior Member

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    Oh wait, is SOD2 even related to estrogen detoxification? I think it is related to progesterone, but maybe I'm confused about estrogen. If so, then disregard my previous comment.
  17. Sea

    Sea Senior Member

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    I haven't found anywhere that says it's a V to A mutation, though I don't doubt that you have Val. It makes research much more difficult when we're not sure which mutation we're even looking at.

    I looked at the omim page you linked to - it seems to me that GG (CC) (also referred to in this case as VV for the valine genotype) is the risk allele in every paper referenced, with one noting a 30-40% decrease in the activity of the protein

    "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."
    cigana, roxie60 and LaurieL like this.
  18. Valentijn

    Valentijn Activity Level: 3

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    If you go to the government database at http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=Rs4880 then right above the map view of the gene on the right side there's a "Residue change" from "V(aline)" to "A(lanine)". A bit to the left of that is the corresponding allele change, from T (or A in some research) to C (or G in some research). So your "GG" alleles means you have the Alanine version in the actual enzyme that it creates.

    It also clarifies that in the first OMIM entry for the "allelic variants":
    The middle allele is the only one changing, from C to T, hence they're referring to the C (G) version as alanine and the T (A) version as valine.
  19. Sea

    Sea Senior Member

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    Ok, so the dbSnp confused me when it reported the mutation T to C when it is known as an A (alanine) to V (valine) change (SOD A16V). (It's not hard to confuse me when I'm tired.) I see though that they do call it a valine to alanine change. So basically there is disagreement as to which way the change has gone but consistency in recognising T (A) as valine and C (G) as alanine.

    That being the case it will be important in discussion to mention what alleles we are talking about rather than just saying "I have this mutation" - which one is the mutation is not clear. What is clear though is that what Yasko reports as the risk version is actually the more active one which is considered better in most other research.

    I hope that's clear. I probably shouldn't be posting at all today. Pretty wiped out. So ignore if I don't make sense
    Valentijn likes this.
  20. Valentijn

    Valentijn Activity Level: 3

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    Exactly. And this is how it is for many actual missense mutations, when both versions are functional.
    In the case of a missense mutation, one protein gets replaced by another (such as alanine and valine) due to a different allele in the SNP of the gene. From what I understand, the sequence of the alleles basically dictates which amino acids it should have. So if someone has ABBC on a gene they might take amino acid X and stick it in the middle of protein Z. But if they have BBBC they might stick amino acid Y into protein Z instead.

    In most cases there's not even an expressed mutation resulting from the Yasko "risk" version of the SNPs. So the protein created by the gene is exactly the same as the "good" version. Hence people are often saying "mutation" when there's not really a relevant mutation, just a different variation. But technically even a very common and completely harmless variation in the SNP is a mutation. So basically a "mutation" isn't a bad or risky thing at all, and everyone has millions of them.

    "Missense mutations" are more interesting, since one amino acid can get replaced by a less stable amino acid and cause the protein to break down much faster, thus not doing its job as well as it should. This might result in deficiencies in one thing, and/or excesses of something else. Some of these missense mutations can result in various disease, but some are pretty harmless because the replacement is an amino acid with a very similar structure and binding capabilities.
    cigana likes this.

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