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Can anyone share their experience with NDUFS3 HOMOZYGOUS?
- 9 years, 11 months ago
I have about 7 homozygous mutations for NDUF so I am screwed here
But I would like to know how this influence my health. All I know is that when activated these are mitochondrial damage. I do take CoQ10 in the form of ubiquinol now.
- 8 years, 9 months ago.
Regarding the DHEA. Prednisone is a synthetic version of cortisol and as such depresses the adrenal glands as well as the immune system, It also prevents the synthesis of muscle via inhibiting protein synthesis. It damages the hippocampus which is involved in long term memory formation and decreases collagen synthesis (slowed healing time) and bone formation. In addition to cortisol the adrenals are responsible for making DHEA which is converted into three forms of estrogen and testosterone and has its own hormonal affect in the body. The adrenals also make aldosterone which is part of how we regulate hydration levels in our blood/body. Because it depresses DHEA we supplement with DHEA whenever we give prednisone to offset some of the dilatory effects of prednisone. People report increased energy amoung other positive side effects.
- 8 years, 11 months ago.
Did they test for methane and hydrogen sulfide too and was it a three hour test.
- 8 years, 11 months ago.
I was tested twice for SIBO with hydrogen breath tests, once by my GI when I was diagnosed with colitis (I recall a score of 14), and once by mail order through my integrative doc last year. Both times were negative, but I did note complete resolution of colitis symptoms after the colonoscopy for a few months, and again while on antibiotics (either cephalexin or bactrim). Colitis is stable with diet now, and no upper GI upset at all, so not a major concern for me. Although I have wondered if I shoud do a trial of minocin for the dermatomyositis. So far I've decided antibiotics would hamper the years of gut progress, so instead I eat fermeted kraut and take Megasporebiotic (amazing probiotic). I don't tolerate lactobacilli types. Only Culturelle, Megaspore, and Prescript Assist. Regarding legumes, my daughter is allergic to all of them (birch pollen cross reaction), so we stay away, but my mom is Guatemalan, so we eat them traditionally prepared (unless they come from a can and are in a salad at restaurants).
- 8 years, 11 months ago.
Forgot to answer that my DM was almost entirely skin only for the first 10 years (since 2004, with several years of spontaneous remission until 2012). I had every skin manifestation of DM - hands, cuticles, face, scalp, chest, back, outer thighs, eyelids, etc. Obvious muscle effects didn't start until this year when I treated an Epstein Barr Virus reactivation with Valtrex (antiviral drug). I could barely walk by day 9 and needed 15 mgs prednisone to bring my muscles back. I'm down to 3 mgs pred, 200 mg plaquenil and 4.5 mg Low Dose Naltrexone (miracle drug) now. My current issue is a hand and wrist injury from snow shoveling back in January that just won't heal completely, and an inability to start a legitimate exercise regimen without major muscle pain and weakness the next 2 days. Hoping the muscle supplements will help.
- 8 years, 11 months ago.
SIBO: Dysbiosis Has A New Name
by Steven Sandberg-Lewis, ND, DHANP and Allison Siebecker, ND, MSOM.
http://www.townsendletter.com/FebMarch2015/sibo0215.html
Dear @WT6467,
Here is an article showing you the possible link between SIBO and Lymphocytic colitis. I have had the opportunity to spend time/work with both of the authors and the are both fantastic resources for GI issues.
- 8 years, 11 months ago.
You are correct in that the Ubiquinone is just regular CoQ10. Have you ever been tested for SIBO? With that many food allergies I would begin to think that may be a factor. I take 400 mg of ubiquinol a day and in some heart failure pts we are using even more. Good job on your diet. You may already know this but if you eat legumes be sure to soak them 24 hrs and throw away the water you soaked them in prior to cooking/eating. Let me know if you have any other questions. :-)
- 8 years, 11 months ago.
Interesting! Yes, I have presumed celiac disease (HLADQ2 genes, lymphocytic colitis, and extreme gluten intolerance, but normal blood tests and didn't bother with an endoscopy). I'm also dairy, soy, sesame, amaranth, and buckwheat intolerant, and I'm mildly sensitive to oats and corn. I'm largely on the paleo diet, although I eat rice and rarely legumes, and I trend towards the more restrictive autoimmune paleo protocol when things are flaring. Celiac genetics definitely predispose to Dermatomyositis. It kills me that rheumys don't automatically prescribe a GF diet. I do lots of research and never came across PABA or DHEA. Very interesting! I only have one MTHFR 1298c gene, so I'm only 30% affected, but I take methylated Bs anyway and tolerate them quite well. My 677T homogygous husband doesn't tolerate them at all! I started approx 5 gm creatine last night, and will lower to 3 gm in a week. Thanks. Regarding CoQ10, I bought Doctor's Best Ubiquinol featuring Kaneka's QH -- 100 mg Softgels. I don't see anything called Ubiquinone -- is that the stuff just labeled CoQ10? Is 100 mg/day enough? Should it be taken with certain supplements or at a specific time?
- 8 years, 11 months ago.
I am also homozygous for the NDUFS7 gene so feel your pain. Sorry about the dermatomyositis. Do you have substantial skin involvement as well? Food allergy/hypersensitivity and therefore food antigens are thought to play a large role in the pathogenesis of dermatomyositis. An elimination diet may be in order. If you are on Predisone you will want to supplement with DHEA and some pts even report help with DHEA even if they are not taking predisone. Another supplement that has shown promise is PABA in large multi gram doses. Vitamin E has also been found to be helpful in people with Polymyositis a related disease. Creatine is great and the studies I looked at were using 8 grams a day initially for a week followed by 3 grams a day. Remember when taking CoQ10 to use the ubiquinol and not ubiquinone variety. I would also make sure that you add some Alpha Lipoic Acid as it is foundational to the KREBs cycle which operates just prior to the mitochondrial complex in the ATP production chain and is often depleted. The B vitamins sound great. If you have the methylation defects make sure that your folate and B12 are methylated ... More
- 8 years, 11 months ago.
I'm hetero for this gene, but homozygous for 3 NDUFS7 snps. I have an autoimmune muscle disease, dermatomyositis, but my muscles have never been normal. I tire and cramp up easily, could barely run 2 miles at my fittest (low endurance), but I have the sprinter gene, so strong, short bursts and speed were easy. Now my disease appears to be in remission, but I cannot start exercising without extreme muscle soreness and weakness x 2 days. I stopped taking Coq10 a while ago (totally forgot!), but now I'm starting it along with creatine, glutamine, MSM sulfur and Bs. Any other supplements I should add to minimize lactic acid buildup and rebuild my strength?
- 8 years, 11 months ago.
Are you interested in the function of this gene or the side effects of this gene snip? It codes for a protein subunit found in complex one in the mitochondria. Complex 1 is responsible for removing the electron from NADH (produced primarily in the Krebs cycle) and placing it on CoQ10 which then carries it down the electron transport chain with the ultimate goal of making ATP. Both my sister and I carry this defect and have found that we have more energy when we take Ubiquinol vs ubiquinone. Ubiquinol is CoQ10 that already has the electron loaded on it. We theorize that there may be a defect in electron placement on CoQ10 due to this defect affecting Complex one.
- 8 years, 11 months ago.