SOD2 A16V homozygous mutation - anyone else?

I have a homozygous mutation on SOD2 A16V among other heterozygous mutations in acetylation and glutathione conjugation.
My doc recommended me to support the SOD2 mutation as much as possible.
How are you guys with the same SOD2 mutation addressing the problem? Are you taking specific supplements and/or avoiding certain foods and lifestyle behaviors?

I just found out I have this one also +/+. I have tried taking SOD in the past as a supplement and didn't notice it was doing anything. Not sure how well it is utilized taken orally or if I didn't take it long enough. I'll be looking into this again for sure.

found this: http://www.canarys-eye-view.org/metabolic_basis/detoxification/detox-gen-ph2.html#sod_snp

Minimizing Risk from SOD Polymorphism:

• Colorful vegetables and fruits
  • for example, banana - see Antioxidant activity of banana flavonoids. Vijayakumar S, Presannakumar G, Vijayalakshmi NR.:"The antioxidant activity of flavonoids from banana (Musa paradisiaca) was studied in rats fed normal as well as high fat diets. Concentrations of peroxidation products namely malondialdehyde, hydroperoxides and conjugated diens were significantly decreased whereas the activities of catalase and superoxide dismutase were enhanced significantly. Concentrations of glutathione were also elevated in the treated animals."
• Broad-spectrum anti-oxidant supplements, including agents that help to raise glutathione levels --e.g.
  • vitamin C
  • magnesium
  • n-acetylcysteine (NAC)
  • alpha-lipoic acid
  • milk thistle
• Manganese (a cofactor for SOD2) may also be helpful.

Welcome to the club .

I think the reason why you didn't get any benefits from SOD supplementation is because SOD in supplements actually is SOD1 / CuZnSOD which is present in the cytosol. If you have a homozygous mutation on SOD2 but no mutation on SOD1 then supplementation with just SOD will not help you much.
SOD2 / MnSOD is present in the mitochondria and can be supported by taking Manganese, copper and maybe iron. One supplement i have found that exactly mimics MnSOD is called C60-oo (oo for olive oil in which it's diluted). There are some very interesting discussions going on about C60 and it's effect on users, search for it on the longecity.org forums.

More on C60 / fullerene:
http://www.ncbi.nlm.nih.gov/pubmed/15451059

This is my limited understanding of it. Please correct me if i'm wrong.

I read the discussion on longecity. IMO, the information presented by the posters as well as the article are great. But, I personally question ROS and its responsibilities. In order for the ROS observations to be universally responsible in relation to the longevity study and then equated to the aging theory, and then equated to disease, lack of SOD2, whether genetic deletion or not, should be found universally and exceptions documented. So this is in its infancy. They are finding others species in which SOD2 knockouts are actually equated to longer lifespans and the other pathways of SOD are actually up-regulated. Why they don't know, and we could speculate just as they are. But it does lead to questions in which are not yet answered concerning ROS, aging, disease development, and longevity none- the-less in my mind.

In some of my work in which I have been doing in the detoxification polymorphisms, I am finding correlations to MAO-A, COMT, MTHFR, ACAT, and others, in which certain polymorphisms in the detox pathways (SOD, CYP's, GSTP, NAT, et.al) commonly occur alongside these methylation polymorphisms as well as each other. There are no direct correlations in peer-reviewed publications that I have found so far, although there are some that ellucidate this. But I am not full boat on ROS being the only responsible factor. There are other reactive species that have been documented in correlation with some of these polymorphisms, that are just as damaging as ROS. IMO, these should also be considered alongside ROS. ROS is well documented, but I believe it is only one piece of the puzzle.

BTW, I am SOD A16V +/+.

A toxicologist acquaintence recommends horseradish for SOD and support of detox mechanisms.

Do either of you also have SNP's in the PAH detoxification genes? I am curious as to which CYP mutations either of you have.

LaurieL

LaurieL, I'd be interested in hearing more about your detoxification work and theories. I'm:

ACAT 1-02 +/+
MAOA R297R +/+
COMT V158M +/-
COMT H62H +/-
MTHFR A1298C +/-
MTHFR 03P39P +/-
GSTP1 I105V +/-
SOD2 A16V +/-
And have various polymorphisms in CYP1A2, CYP1B1, CYP2A6 and CYP2D6.

I gradually developed CFS-like symptoms after several years of continuous oral contraceptives (no placebo) until they got bad enough that I became completely bedbound. I improved somewhat after quitting them, but now all my symptoms flare during the higher-estrogen parts of my cycle, and recede during menstruation and right after ovulation. I'm suspecting an estrogen detoxification problem-- not only to the years of exogenous estrogen but now to my own endogenous estrogen as well. I'm still trying to put together all the pieces. I'm wondering if the exogenous estrogen/progestin changed my gene expression somewhere along the line.

I would love to!! I am finding 4 hydroxylation of estrogen problems correlates with ACAT, CYP1B1, and downstream, SOD2 mutations. I am also finding other cholesterol mutations correlate with ACAT. I seem to have a string of mutations relating to cholesterol. Mine has been for most of my life, abnormally low. I am currently trying to tie the "string" of mutations together to present in a coherent paper.

I need to start a survey on this forum. I have spreadsheets for Autism, but not for CFS. I know the mutations that are predominant in Autism, but we need info regarding CFS patients. I will have to do that later tonight.

LaurieL

LaurieL, thanks for your response-- that is so interesting about ACAT! I knew a homozygous ACAT mutation was relatively rare, but I had no idea that it could affect estrogen metabolism.

As for cholesterol, I've always had high HDL and low LDL, but my LDL has been going up since I've been sick (starting at age 30, I'm now 33.) My triglycerides have also gone up, and are now above the reference range. My dad had abnormally high triglycerides (you could see fat when they drew his blood) and he eventually developed a fatty liver and died of cirrhosis. I wonder if that is related to ACAT and maybe where I got the mutation from. Also, my mom had to have her gallbladder removed and has had trouble digesting fatty foods, not sure if that could relate as well.

I'm interested to hear more of what you come up with.

Incidentally, I just got my estrogen metabolite profile back from Metametrix. Both 4-hydroxyestrone and 16a-hydroxyestrone were on the high end. 2-hydroxyestradiol is on the low end, and 2-hydroxestrone is on the high end. 2-Methoxyestrone was above reference range and 4-methoxyestrone was on the high end.

Now to go do some more research.

Starting a new thread....

Thinktank (or anyone else), have you tried C60-oo? And does anyone know any other "remedies for the SOD2 A16V ++ mutation?

I don't know that much about SOD mutations. One thing though is if you are going to take C and lipoic, you need to also take E and CoQ10. CoQ10 would be particularly important because its a mitochondrial antioxidant. If there is increased mitochondrial oxidative stress due to defective SOD2, then both CoQ10 and Lipoic would be critical. NAC converts to glutathione, so with C, E, CoQ10 and lipoic it completes the antioxidant network called the antioxidant pentet. All are important.

However I think a broad range of diet based antioxidants may turn out to be very important too. Colourful fruit and vege do contain them, but reds and purple/blues tend to contain the most. Its worth eating those kinds of fruits and vegetables.

Thanx, Alex. It's so tricky with this stuff, cause I have to be careful not to overdo CoQ10 since it's a methyl donor and I'm COMT++, so I'm only taking 100mg. And I've been told not to take NAC because I'm CBS+, and I don't remember why I'm not supposed to take ALA -- maybe it's a sulfur donor, so it's because of the CBS+? Jeez -- trying to navigate through the various mutations, helping certain ones while not exacerbating other ones, is the most unpleasant puzzle I've ever tried to solve.

Not yet but i'm going to. I'm in a really bad colitis flare at the moment so it might not be the best time to try it out. I will try it as soon as my gut i healed.

Thinktank, I would love it if you reported back on what the results are of your C60-oo experiment. In the meantime, good luck with your gut!

PDXhausted

Oral contraceptives deplete folate, and thus could impact methylation (especially if you have MTHFR), causing wide-ranging effects.

My detoxification mutations are worse than yours, Thinktank. I have eight mutations, indeed very similar to yours, but all of them homozigous. The SOD one, which I have of course, its about mitochondria... oxidative stress? It sucks. That c60 thing looks expensive, I feel like I get more protection from oxidative stress taking vegetable juice etc Hope that I am wrong and its miraculous hah

I bet I have more mutations, these were just the 23andme ones. After all, I have been autistic and unhappy/mentally troubled/neurological symptoms all my life. I am pondering about how to "bypass" or boost these genes, some of their inducers are well documented.

About PAH i have no idea yet, i'm still awaiting results from yasko and 23andme.
For CYP i have mutations in CYP2C9 and CYP2E1

Yeah we gotta bring the mitochondrial oxidative stress down.
C60 is actually very cheap. There are some online sources that sell C60 diluted in olive oil, $30 a bottle or something around that amount.

I always feel a lot better when i'm on NAC + Q10 + vitamin C.
alex3619 , i'll try to add the other mitochrondrial antioxidants as well. I've heard some good stuff about PQQ, what's your take on it?

I don't have a lot to say about PQQ except its worth investigating. I am particularly interested if anyone has found it helps with brain fog. I am also interested in its claimed protection against mercury poisoning. If it can protect nerves, and boost mitochondrial replication, reliably, then it could be good. However I don't know that there has been any research on this for ME.

NAC, Q10, C are three of the five antioxidants in the antioxidant pentet. The others are lipoic acid and vitamin E. While there is controversy around lipoic acid, there is no such controversy around vitamin E, especialy gamma tocopherol and mixed tocopherols. Alpha tocopheral on the other hand I regard as almost useless ... promoted because its cheap, easy to make and can be made synthetically, not because its really useful. So if NAC, Q10 and C work, I would suggest trying gamma or mixed tocopherols.