I'd like to start this post with a screen shot of something I just discovered on my Livewello.com report. The reason I'm sharing this is because this could go hand-in-hand with the CBS gene issue I want to talk about - but this is only speculation. I don't know how to really talk about this at this point in time, but wanted to point it out to you readers. This screen shot shows that I am either heterozygous or homozygous for main genes associated with fibromyaliga, chronic fatigue, and gut issues. Gee, sounds familiar! I have all of these diagnoses! But, genes ONLY point to lab tests you should get. They don't prove you have anything. Since I already have the diagnoses, maybe the DNA testing just backs them up?
CBS Genes
Here's my situation:
I know that my CBS genes are expressing without the use of lab tests because it's simply obvious. I was having trouble with sulfurous foods for at least a year before having this test done, but the trouble was I didn't know it was sulfur causing the problems. DNA testing helped me figure that out. My Vitamin B6 level was extremely high a few months ago (I don't know if it still is since I'm actively working to lower it, but I need to have it retested soon.) I also suffer mild - moderate multiple chemical sensitives, which I can control by taking enough glutathione. I haven't been officially tested, but based on all the clues, I'm probably deficient in glutathione. CBS genes are primarily responsible for processing sulfur in the body, but they also greatly affect B6 and glutathione production.
Before digging into CBS more, let me tell you a story to explain why it's so important to understand:
Two days ago I decided to do something that was probably very stupid. I decided to make an almond and coconut flour flat bread for myself. I made up the recipe as I went, thinking I would need enough egg to help it stick together and rise. The problem is that eggs are very sulfurous, and I've had to avoid them for at least a year because they gave me terrible stomach pain. I used 2 eggs in the mix, and ate the whole flat bread (it turned out okay - nothing special.) I figured it had been long enough since I had egg, so I wanted to see what would happen. (That's not entirely true - I've had some almond flour muffins with a tiny bit of egg in them and in small portions I was okay with them, which is what made me think it might be safe to try a large portion of eggs again.) What happened was a hellaciously horrible <insert swear word here> stomach ache that I never want to repeat ever again! It took me hours to reduce the pain down enough to tolerate it. I was bloated to my limit through my entire stomach, not just the lower gut area. I had cramping pains through my entire stomach area, as if I had horrible gas, but there was no gas. I was on the verge of vomiting for a while, but that didn't happen because I don't vomit easily (I wish I could have.) I had a hard time bending over because the cramps would get worse. I felt like a balloon that might pop, and I was praying to God that I wouldn't end up in the ER with some sort of burst organ. I had to drink ginger tea, put a heating pad on my stomach, do stomach massage, take tons of DG Licorice, take some extra activated charcoal, and take some extra glutathione. When I finally got some relief in the bathroom, it was obvious my food wasn't well digested. Because I NEVER want to repeat this again, and I know this is an issue other people suffer with, it's important to understand how to prevent this kind of pain.
Coffee, broccoli, cabbage, chocolate, and other sulfurous foods had been giving me the same problems, to a lesser degree. I just didn't know sulfur was the problem until I read up on what CBS mutations mean, then I easily drew the connection to sulfur in those foods.
My conclusion? Sure, MTHFR is an aptly named gene if it's mutated and expressing, but "CBS" looks like a swear word to me too.
What does CBS do?
"CBS (cystathionine beta synthase) is a gene that converts homocysteine into cystathionine. The CBS pathway is the gateway into a number of essential biochemical processes. The biochemical pathways that follow and are linked to CBS are Transsulfuration and Glutathionine Synthesis. It is essential to address that Glutathione (GSH) is among the most important endogenously-produced antioxidants in every cell of the body. Glutathione activity in cells is critical for normal detoxification and defense mechanisms in every cell."http://drjockers.com/cbs-mutation-low-sulfur-diet/
"This is which is an enzyme responsible for converting serine and homocysteine into cystothionine. This is the first step of the transsulfuration pathway and it is B6 dependent and a key part of glutathione production. CBS defects are upregulations where the enzyme works too fast which results in low levels of cystathionine and homocysteine and high taurine and ammonia. If there is an NOS mutation along with the CBS it can dramatically elevate ammonia levels.
Individuals with a CBS mutation will produce more sulfur end products from the methylation cycle. Those with a homozygous variant will most likely need to limit their intake of sulfur containing foods as they will elevate ammonia levels.
This mutation can also affect a key enzyme called G6PDH in an indirect manner. This leads to altered blood sugar metabolism, red blood cell formation and blood vessel stability. This can contribute to easy brusing, bleeding and broken blood vessels. Nutrigenomic expert Dr Amy Yasko recommends that one support their CBS enzyme for at least six weeks before starting methylation supplements. Without normalized transsulfuration the body is unable to produce adequate glutathione."http://drjockers.com/genetic-testing/
"CBS (cystathionine beta synthase) catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine. CBS defects are actually an upregulation of the CBS enzyme. This means the enzyme works too fast. In these patients, it's common to see low levels of cystathionine and homocysteine since there is a rapid conversion to taurine. This leads to high levels of taurine and ammonia. The CBS upregulation has been clinically observed to result in sulfur intolerance in some patients. It has also been observed that BH4 can also become depleted with a CBS upregulation. BH4 helps regulate neurotransmitters and mood."http://geneticgenie.org/all-mutations/
Got that? Yeah, I agree - it's over my head too, sort of. I can't explain the technicalities, but I understand the point enough to address it. From this point on, I'm only going to talk about CBS C699T because it's the mutation I'm homozygous for. While I'm heterozygous for CBS A13637G, I have not researched it at all yet.
CBS C699T, The "Hole in the Bucket"
"A major problem with CBS up-regulations besides the inhibition of normal GSH activity, is that there may be a very high loss of methyl groups because they are drawn down through the up-regulated CBS pathway. In this way, CBS up-regulations behave like a toilet that is broken: the water does not refill, and instead flows down the drain continuously.
This is a potentially catastophic scenario, because methyl groups are essential for other methylation reactions at other critical junctions. Not only would someone with a CBS up-regulation be losing methyl groups, as well as the primary antioxidant defense in every cell (glutathione), any additional methyl groups from diet or supplementation could cause a potential surge in CBS up-regulations. The result of this situation is a potential toxic overload of many substances, such as ammonia, sulfite, sulfate and hydrogen sulfide, and whatever else that comes along for the ride."
http://metabolichealing.com/metabolic-gateways-cbs-gene-mutations-glutathione/
My understanding, and I really do not understand the complexities, is that a mutated CBS C699T boils down to a drain in the body's nutrition. It's a "hole in the bucket." Instead of processing nutrition like it's supposed to, the mutation causes a hole in the cycle that ends up dumping nutrition. This is why many doctors associate CBS with B vitamin deficiency, except for taurine, which gets over produced in this situation. Read more about this here.
I, and several others I have met on a B6 Toxicity Facebook group, have the opposite problem - we have elevated b6! Many of us also have this mutation. So how could this be? Is the mutation dumping B6 or not? This is a question I see brought up in many forums, but I don't know of any official research that explains this, except that this page does say you might see elevated b6 on an OAT test in people with CBS mutations. It doesn't elaborate. We know there must be a correlation, because B6 IS what supports CBS mutations in the problems they cause. B6 is CBS's co-factor.
But, b6 aside, I think it's easy to understand that a "hole in the bucket" causes a domino effect of problems in one's health. Losing nutrition at this particular "cog in the wheel" of the methylization process means that other cogs (genes) may end up not getting the nutrients they need to work properly. I wish I knew more details, such as specific problems to look for in other genes, but I don't.
CBS: Sulfur and Glutathione
CBS processes sulfur. When this process is broken, sulfur turns into ammonia. Too much ammonia in the body causes all sorts of discomforts. Ammonia is a toxin, and our body is supposed to be equipped to handle it. After all, bacteria in our gut does release a little bit of ammonia too. CBS is the body's way of handling ammonia, and when CBS is broken... well, we have a problem!
"Ammonia - high levels act as an irritant and may cause excess cortisol and contribute to the downward spiral of adrenal fatigue and hormone problems that is common in so many (euphemism for "virtually all") people."http://blog.modernpaleo.com/2013/01/homocysteine-mutations-and-sulfur.html
Yes, I have major (to me) adrenal fatigue issues. It's a constant battle. I hope this helps you see that there are layers and layers to these chronic health issues. Adrenal fatigue isn't it's own issue, and it's not just connected to thyroid issues.
Personally, I've found that avoiding all sulfurous foods prevents this problem. For healthy people, sulfur is a necessary nutrient and vital to many processes in the body. I do worry that avoiding sulfur will eventually lead to other issues, but if I eat sulfur now, I get too sick to carry on. What choice do I have?
Interestingly, gluathione, the body's primary antioxidant (extremely important), is a sulfur. CBS mutations block the creation of glutathione, so it means we're deficient. But, shouldn't supplementing it with cause sulfur reactions in the body? For me, supplementing with L-Glutathione and NAC (an amino acid precursor to glutathione production) are absolutely necessary. They don't cause harm, only help me substantially. Before my doctor put me on them, my Multiple Chemical Sensitives were debilitating. I didn't really understand that I was constantly sick due to chemical intolerance until I healed enough to notice that I only felt sick after being exposed to certain things, like artificial fragrances, air fresheners, new clothing, etc. Once my doctor put me on the l-glutathione and NAC, I slowly improved more and more. Now, as long as I stay on high doses, I can often tolerate going out into public without getting too sick - depending on where I go. I still can't go into the mall without getting too sick, but I can go to work at my safe enough job - although too much time there can really set me back. I have to be careful.
I think a fair question to ask is: Are my CBS mutations causing my Chemical Sensitives? I think it's very possible, just looking at the evidence. I also have an immediate family member with MCS that was made much better by L-glutathione too - so it's in our genes. Could it be the CBS gene? This is unlikely the cause of MCS in every person with it - there are other ways to get MCS, such as chemical poisoning.
So why do I do really well with gluathione and NAC, but eggs make me want to go to the ER? I don't have that answer either. Again, this is a very new science, and it's highly complicated. I'm guessing it will be many many more years before doctors, scientists, and researchers have a good understanding of our genome.
CBS and Other Genes
Here's where I start to get really fuzzy. I do know from all the reading I've done that other gene mutations can make CBS mutations even worse. I'm too tired to really understand, so I tend to skim those parts while reading. Instead, I'd like to share a few links that dig into the issue (some of these are repeats from earlier in the post:)
http://blog.modernpaleo.com/2013/01/homocysteine-mutations-and-sulfur.html
http://resqua.com/100001600189727/what-is-a-cbs-c699t-gene-mutation
http://snpedia.com/index.php/Yasko_Methylation#CBS_Gene
http://mthfrsupport.weebly.com/articles/other-gene-mutations-that-must-be-addressed-before-starting-an-mthfr-protocol
And finally, possibly the mot helpful resource of this post, Dr. Ben Lynch's (of MTHFR.net - he's a leading researcher) Webinar on CBS:
https://www.youtube.com/watch?v=iZxjLxnByco&app=desktop
Conclusion
How helpful is knowing this information about my CBS mutation? What does it change? This is just the way my body is, right? Well, for me, knowledge is peace of mind. If I can stop wondering and accept the root cause for my issues, I'm at peace with having the issues. If I don't know why something is wrong, I won't stop researching until I understand. That's just me. It also explains WHY I don't tolerate sulfur, and what the true consequences of eating too much sulfur are. I know that sulfur doesn't just cause discomfort that I can occasionally deal with, it actually does harm my body because of the ammonia build up. I know that MCS is somewhat within my control by taking L-glutathione, which gives me hope. I know that by B6 toxicity isn't a fluke or an accident, I actually do have an internal problem with B6.
It's an answer. Not a complete answer, but a helpful answer. Finding my CBS mutations alone were worth the cost of the 23andme.com testing!
Whew! I'm too tired to carry on. I'm going to go space out in bed for a while. Please comment with any additional information you can add!
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