Discussion in 'Genetic Testing and SNPs' started by Lotus97, May 29, 2013.
Wow, I can only imagine. I dont have as many reds and I know how I feel. My best to you in figuring out the best approach.
It does look very bad in a few areas. Your MAO and COMT results mean you might not be breaking down much dopamine, epinephrine, or norepinephrine at all. As a result, one or more of those might be quite elevated.
The slightly good news is that you aren't producing dopamine very quickly either, due to your VDR problems. But off-setting things a bit more in the direction of the neurotransmitters building up too much is the MTHFR A1298C problem. And with your MAO/COMT problems, I don't know what the effect of vitamin D supplementation might be, since it has the potential to raise dopamine production even further.
Your MTHFR problems in general indicate that you aren't much good at producing methylfolate. And MTRR means you have a similar issue making methylB12 - but hey, at least some of the genes are working there! And the MTR means you're using up methylB12 too quickly. But because of the MAO/COMT problems possibly causing an excess of methyl groups already, supplementing methylfolate and/or methylB12 might suck. This might not be a problem with methylfolate where doses are typically low, but megadosing B12 without trying smaller doses first might be a really bad idea.
BHMT is a nice back door for getting rid of homocysteine by converting it back into methionine. You don't have this back door at all, apparently . Fortunately your front door (CBS) seems to be working pretty normally. Though it may be a good idea to keep an eye on your homocysteine levels, just in case.
CYP1B1 is involved in synthesizing cholesterol, steroids, and other fats, as well as vitamin D metabolism and some drug and toxin metabolism. Not a lot of data about CYP1B1 is known yet, but maybe those are some things to keep an eye on.
CYP2C9 can affect how you react to certain drugs. http://en.wikipedia.org/wiki/CYP2C9 has a nice list - basically stuff in the "substrates" list will be a lot harder for you to handle, and taking anything in the "inhibitors" list will make it even more difficult to process the "substrates".
CYP2D6 S486T and 2850C>T are the "2" variant of CYP2D6, and 100C>T is the "10" variant. According to http://en.wikipedia.org/wiki/CYP2D6 (which also has a nice chart of substrates and inhibitors), The 2 variant means you may be up-regulated to some extent and the 10 variant means you may be down-regulated to some extent. So it's hard to say exactly how you'll react to the drugs listed, but it should be "interesting"
One of the drugs involving CYP1B1 metabolism is Rituximab ... it's one of (many) genes which are implicated in determining non-responders. But if it's down-regulated then maybe that means it's being "expressed" less, which might mean there's less chance of being a non-responder.
I'm at least glad I don't have to worry about avoiding sulfur supplements. I assume I don't since I don't have CBS.
You have the same CBS as me A360A and I am wondering although this is not the really bad one if I may still have sulphur issues and if I should get strips and test or just move on to treating MTRR & MTHFR???
I will keep an eye on what you decide about that Lotus........you are much sharper about this stuff than I am. Also I have high homocysteine
I actually forgot about that one (just got my results last night). I guess maybe I do need to look into CBS. I was also wondering about ordering those test strips too. I've been spending so much money on supplements that I wanted to wait to see my results. I guess I'll hold off on MSM and glucosamine sulfate until I find out more info. If anyone else following this thread knows the answer, please tell us
Lotus As far as I KNOW I have never had bad reactions to sulphur foods or meds. But maybe since I have the least problematic of the 2 SNP's it could be that even though its not bad enough to produce pronounced symptoms it may still be messing with me below the radar. Thats why I am considering the test strips. The cheapest ones I could find are $30 for 100 plus shipping. If you decide to go that route and want to split the cost let me know.
During a period where I was making a recovery I was taking a lot of MSM, ALA, and NAC and seemed to do ok, but I wasn't doing methylation at the time and I've read that methylation can make CBS issues worse. I want to start taking MSM and glucosamine sulfate because I'm hoping they'll help my joint pain. I'm getting to the point where I'm skeptical of most supplements so I don't have high hopes for either of them working. Someone also recommended D-phenylalanine for pain so I'm going to try that as well.
Yay, you finally got your results back! The CBS A360A is the minor one. The several people I know with it, don't seem to be affected. However, the Heartfixer says he has it and has problems with wines (sulfites). Yasko says CBS may not be a problem until later in treatment when lead has been chelated.
My suggestion would be to get the urine sulfate strips and test now. Then keep them on hand for retesting if problems seem to crop up later.
Yeah, in general, I don't think I've ever seen SNPs that bad. I have to take a break to eat, but will try to come back later and give you a run down of treatment.
I guess technically I should be sensitive to sulfur supplements because of my CBS upregulation, but I've done well with the sulfur supplements in the past.
I sure know when when I can't tolerate the sulfur stuff now. Brain fog, foot pain, stomach pain, etc....
Today I'm wondering if it may have been the biofilm enzymes that caused some gut permeability issues that are causing the sensitivity to sulfur supplements. Before I thought it may have been the calcium removed form my gut with the biofilm chelator I took.
I retain the right to change my mind, and only use the snp's for general guidance.
Have you noticed whether methylation and/or B6/P5P make your CBS issues worse?
B6 is something that makes me worse, not sure what it is related to though. P5P is more tolerable.
I assume then that it would be for other reasons besides CBS since it seems like P5P would be more likely than B6 to make that worse since it's in its coenzymated/active form (unless you were taking a much higher dose of B6 compared to P5P). I seem to remember someone else saying B6 caused them problems, but P5P didn't (unless you were the one who posted it in another thread).
Hi Lotus. Yep your results on one hand are bad, but I'd actually view it as a positive - potentially some good answers for your state of health and some direction to head to make things a lot better.
Personally I'd be disappointed if the gene testing showed nothing and was just another dead end
There's no ACAT or SHMT, so you can skip those. Then treat CBS if the urine sulfate strips are showing high, and especially if you're having trouble tolerating methyl donors. Heartfixer has good info on how to do that. It may take several months before you can start methyl donors (methylfolate, B12, TMG).
You're going to need methylfolate for the MTHFR, B12 for the MTR/MTRR, and TMG/phosphatidyl choline for the BHMT.
Your COMT+/+ and VDR Taq -/- is the most sensitive combination for mood swings, so Yasko suggests using mostly hydroxycobalamin for B12. This would definitely explain norepinephrine type symptoms you were experiencing.
I've had good luck with using Yasko's General Neurological Health Formula for TMG and various co-factors. I'm using lecithin for the phos choline, as suggested by Rich Vank. I'm also taking Thorne Basic Nutrients multi for methylfolate/folinic and co-factors. I think you can pretty much disregard the cobalamins in them as they won't be well absorbed.
Hydroxy B12 can be hard to find. Yasko sells a liquid sublingual hydroxycobalamin. I believe one drop is 1000mcg, so you may want to dilute that down with water to get a smaller starting dose. I bought several eyedropper bottles from Amazon for this purpose. Make sure the bottles are the brown kind to block out light.
If you're interested in a B Complex with low B6 (for CBS), Yasko also sells a good one. I'm taking that and able to tolerate higher amounts than when I was taking a Thorne B Complex. This means I'm able to get more B2, which according to my Nutreval results I desperately need.
The prices on these particular Yasko supps mentioned aren't too bad, especially if you're only going to be taking tiny amounts.
I was just about to ask about that. dbkita said that stimulating the BHMT pathway will potentially cause more dopamine to be converted into norepinephrine. If I'm COMT+/+ and VDR Taq -/- that means I'm already going to be high in norepinephrine. Also, what about taking choline to stimulate the BHMT pathway?
So that means I probably don't have a problem processing folinic acid? I don't fully understand what's going on because it sounds like I need both MTHFS (different than MTHFR) and SHMT mutations. I'm just rereading what I posted below from Rich and Nandixon and I'm confused. Nandixon said it might be both MTHFS and SHMT, but then it also sounds like it could only be MTHFS.
This is from Nandixon
And this is from Rich:
So happy you've finally got results. Colorful though they may be. As others have said, at least you've got something tangible to work on now.
Here's to improved health for you!
Except that I also have Lyme, but I hope you're right.
I'm confused about one of the things Genetic Genie told me:
Does DMG stimulate the BHMT pathway? Because what Rich said made it sound like it does the opposite. Am I missing something?
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