Author Topic: Genetic profile results  (Read 28246 times)

gzbking

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Re: Genetic profile results
« Reply #80 on: August 22, 2023, 10:01:38 AM »
I am a certified functional genomic analyst and health coach.  A new client presents with POIS, and that brings me to this forum.

The DNA test I use looks at over 200000 variants in the inflammation and detoxification pathways, beyond the common and usual suspects (COMT, MTHFR, ACHY).  This test uses a proprietary CHiP and is fulfilled at a lab at Rutgers in NJ.  The data is loaded into analytical software and, along with an organic acids test and signs/symptoms questionnaire, gives us very good insights into sources of inflammation.  We're looking at not only variants in enzymes (genes) but toxins and nutritional/biochemical imbalances.

For this client, in the enzymes/genes, I will be looking at several cycles of inflammation/detoxification (Krebs, methylation, sulfation, glucoronidation, urea  ...), the roots of his oxidative stress (hydroxyl radicals, hydrogen peroxide, peroxynitrite, etc), "mast cell activation"/histamine, NOS uncoupling, neurotransmitters, ammonia, and more. 

I suspect mold mycotoxins, and other toxins like glyphosate, aluminum, borrelia, are taking "hits" on my client's immune system (NADPH oxidase, NOX) and blocking detox pathways.

I highly recommend the book, "Toxic" by Dr. Neil Nathan who contributes to "my" research team at NGRI.  Chapter 16 describes our methodology.  My website has additional info, graphics, resources.

wait whats your background are you a biologist or a organic chemist, and what does genetics have to do with health coaching and are you a clinical geneticist or genetic researcher or you have a masters in clinical microbiology or organic chemistry thanks cause i also am a organic chemist (Bsc. Org. Chem) and have studied computational genetics and do we even have any amount of reliable data about pathogeniticity of any genomic variance reliable enough to guide patients offcourse i cant maybe you can throw some light on it

Quantum

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Re: Genetic profile results
« Reply #81 on: August 23, 2023, 11:49:31 AM »
I am a certified functional genomic analyst and health coach.  A new client presents with POIS, and that brings me to this forum.

The DNA test I use looks at over 200000 variants in the inflammation and detoxification pathways, beyond the common and usual suspects (COMT, MTHFR, ACHY).  This test uses a proprietary CHiP and is fulfilled at a lab at Rutgers in NJ.  The data is loaded into analytical software and, along with an organic acids test and signs/symptoms questionnaire, gives us very good insights into sources of inflammation.  We're looking at not only variants in enzymes (genes) but toxins and nutritional/biochemical imbalances.

For this client, in the enzymes/genes, I will be looking at several cycles of inflammation/detoxification (Krebs, methylation, sulfation, glucoronidation, urea  ...), the roots of his oxidative stress (hydroxyl radicals, hydrogen peroxide, peroxynitrite, etc), "mast cell activation"/histamine, NOS uncoupling, neurotransmitters, ammonia, and more. 

I suspect mold mycotoxins, and other toxins like glyphosate, aluminum, borrelia, are taking "hits" on my client's immune system (NADPH oxidase, NOX) and blocking detox pathways.

I highly recommend the book, "Toxic" by Dr. Neil Nathan who contributes to "my" research team at NGRI.  Chapter 16 describes our methodology.  My website has additional info, graphics, resources.

wait whats your background are you a biologist or a organic chemist, and what does genetics have to do with health coaching and are you a clinical geneticist or genetic researcher or you have a masters in clinical microbiology or organic chemistry thanks cause i also am a organic chemist (Bsc. Org. Chem) and have studied computational genetics and do we even have any amount of reliable data about pathogeniticity of any genomic variance reliable enough to guide patients offcourse i cant maybe you can throw some light on it

Hi gzbking,

This post you quote is more than 2 years old, and this user, HeatherRaeINHC, has not logged in for more than 2 years, so an answer is unlikely.

Interesting that you studied computational genetics.  To find guidance from health genomics results, a science still in its infancy, is quite difficult for now.  It took me one year to find something very significant and useful for my life in my genome results, and I am a health worker very knowledgeable about human metabolism.  But amid my multiple SNPs, I have finally found the importance of a heterozygote SNP causing a disorder in the urea cycle.  This specific SNP is supposed to be benign, but my half-activity on an enzyme in the urea cycle had a huge impact on my life, especially by limiting my exercise and sport capacity, and causing me unexplainably long recovery time after sport and exercise.  It was caused by hyperammonemia, so using my muscles, or eating meat or any large protein intake, will cause me to have a rising level of ammonia in my blood, which is highly toxic for the brain and nervous system.   I wouldn't call those effects "benign", but that is what those databases are able to say, currently. 

I have yet to measure the impact of my new anti-ammonia protocol on my POIS.  Started it this month, and my recovery from sport is now normal  ( using supplements that help eliminate ammonia, like L-citrulline, L-carnitine, and some others).  Since I do not O very often these years, having developed through the years a kind of tantric approach with no O, I do not know yet if it will help lower my POIS.
You are 100% responsible for what you do with anything I post on this forum and of any consequence it could have for you.  Forum rule: ""Do not use POISCenter as a substitute for, or to give, medical advice" Read the remaining part at http://poiscenter.com/forums/index.php?topic=1.msg10259#msg10259

berlin1984

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Re: Genetic profile results
« Reply #82 on: August 25, 2023, 03:04:04 AM »
It took me one year to find something very significant and useful for my life in my genome results, and I am a health worker very knowledgeable about human metabolism.  But amid my multiple SNPs, I have finally found the importance of a heterozygote SNP causing a disorder in the urea cycle.  This specific SNP is supposed to be benign, but my half-activity on an enzyme in the urea cycle had a huge impact on my life, especially by limiting my exercise and sport capacity, and causing me unexplainably long recovery time after sport and exercise.  It was caused by hyperammonemia, so using my muscles, or eating meat or any large protein intake, will cause me to have a rising level of ammonia in my blood, which is highly toxic for the brain and nervous system.   I wouldn't call those effects "benign", but that is what those databases are able to say, currently. 

I have yet to measure the impact of my new anti-ammonia protocol on my POIS.  Started it this month, and my recovery from sport is now normal  ( using supplements that help eliminate ammonia, like L-citrulline, L-carnitine, and some others).  Since I do not O very often these years, having developed through the years a kind of tantric approach with no O, I do not know yet if it will help lower my POIS.

Interesting, which SNP is that? (Maybe you mentioned it before, didn't check your posts).

Regarding Protein: You might want to research EAA (Essential Amino Acid) or even better MAP amino acids. Taking that, you can avoid the "clutter" that comes with protein and take in the amino acids directly.

Quantum

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Re: Genetic profile results
« Reply #83 on: August 25, 2023, 07:14:53 AM »
It took me one year to find something very significant and useful for my life in my genome results, and I am a health worker very knowledgeable about human metabolism.  But amid my multiple SNPs, I have finally found the importance of a heterozygote SNP causing a disorder in the urea cycle.  This specific SNP is supposed to be benign, but my half-activity on an enzyme in the urea cycle had a huge impact on my life, especially by limiting my exercise and sport capacity, and causing me unexplainably long recovery time after sport and exercise.  It was caused by hyperammonemia, so using my muscles, or eating meat or any large protein intake, will cause me to have a rising level of ammonia in my blood, which is highly toxic for the brain and nervous system.   I wouldn't call those effects "benign", but that is what those databases are able to say, currently. 

I have yet to measure the impact of my new anti-ammonia protocol on my POIS.  Started it this month, and my recovery from sport is now normal  ( using supplements that help eliminate ammonia, like L-citrulline, L-carnitine, and some others).  Since I do not O very often these years, having developed through the years a kind of tantric approach with no O, I do not know yet if it will help lower my POIS.

Interesting, which SNP is that? (Maybe you mentioned it before, didn't check your posts).

Regarding Protein: You might want to research EAA (Essential Amino Acid) or even better MAP amino acids. Taking that, you can avoid the "clutter" that comes with protein and take in the amino acids directly.
Hi Berlin,
My exact SNP is rs1047891, affecting the CPS1 enzyme.
Yes, I pay attention to my protein intake.  And, whenever I do sport, I use my ammonia detox supplements:  L-carnitine, L-ornithine, magnesium malate, and L-citrulline.  Surprisingly, cinnamon, because a part of it is metabolized in the liver into a similar molecule to sodium benzoate, a powerful ammonia scavenger.  But Ceylan cinnamon must be used because regular cinnamon contains too much coumarin, toxic for the liver, so if you take a few grams, it is toxic.  Ceylan cinnamon contains only traces of it, and is ok)
 
You are 100% responsible for what you do with anything I post on this forum and of any consequence it could have for you.  Forum rule: ""Do not use POISCenter as a substitute for, or to give, medical advice" Read the remaining part at http://poiscenter.com/forums/index.php?topic=1.msg10259#msg10259

Quantum

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Re: Genetic profile results
« Reply #84 on: August 30, 2023, 07:36:20 PM »
More about my CPS1 mutation, resulting in a limited capacity to eliminate ammonia:

Certain amino acids help, in the right dosage, to eliminate ammonia ( because, if too much, it defeats the purpose, as amino acids contain ammonia in their structure, hence their name, so too much will worsen the problem). 

Those which help me the most, so far, are L-carnitine, and L-ornithine, both being known to help lower ammonia and used in patients with urea cycle disorders ( like me, even if I am not a severe case, being a heterozygote for CPS1, thus having only one defective gene but also one normal  CPS1 gene).  L-citrulline is the most used by doctors, and it was effective for me, but unfortunately, it has a major side effect for me.  L-citrulline is part of the urea cycle, so it gets the cycle moving, but in so doing, a lot of it is transformed into L-arginine, which is also part of the urea cycle.  Alas, L-arginine is a top nutrient for HSV-1, a herpes virus that causes cold sores and canker sores.  I always had canker sores, but when taking L-citrulline for a month, the number of canker sores I had went through the roof.  So, I changed my protocol for a new one in which there is no L-citrulline.

L-aspartate is, too, part of the urea cycle, also called the ornithine cycle, so a supplement of it helps eliminate more ammonia, which is the goal of the urea cycle.  There is even a supplement called L-ornithine L-aspartate (LOLA) which combines both amino acids and is taken to eliminate ammonia.  I may try it when my current stock of L-ornithine will have to be renewed.

I also use Ceylan cinnamon, because it is metabolized in the liver into a a substance similar to sodium benzoate, an ammonia scavenger.  Regular cinnamon cannot be used, because it has too much coumarin in it, and in great amounts, coumarin is toxic for the liver.  Ceylan organic cinnamon has only traces of coumarin, so it is safe to take up to 2,5 grams a day.

Exercise does increase ammonia in the blood, and more in mine than in the majority of people, because of my limited capacity to eliminate it. So, in addition to my supplement helping to eliminate more ammonia, I try to take glucose sources at intervals during sport, limiting the use of BCAA (branched-chain amino acids) as an alternate muscle fuel, which causes ammonia to rise.  I have always noted that my long recovery problems would manifest more if I did sport for more than 45 minutes, and this is usually the time it takes to deplete the glycogen reserve in the muscles.  Past that, more amino acids are used to fuel the muscles, so more ammonia is produced when they are metabolized.
As I said earlier, I do not know for now if ammonia has a direct link with my POIS, but I do know that my POIS attacks are worse if I am in a recovery period from sport ( and that I have ammonia already taxing my brain).
« Last Edit: August 30, 2023, 07:46:20 PM by Quantum »
You are 100% responsible for what you do with anything I post on this forum and of any consequence it could have for you.  Forum rule: ""Do not use POISCenter as a substitute for, or to give, medical advice" Read the remaining part at http://poiscenter.com/forums/index.php?topic=1.msg10259#msg10259

ThisType

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Re: Genetic profile results
« Reply #85 on: May 01, 2024, 08:25:15 AM »
per request from @berlin1984, my genetics results that I think are relevant are attached. 
* My summary: (https://poiscenter.com/forums/index.php?topic=4502.msg48105#msg48105) connects with the treatment (methylfolate, choline, exercise)
* The marker from medical blood tests (https://poiscenter.com/forums/index.php?topic=4526.msg48447#msg48447)
* The potential cause (folate anemia) generated by genetic mutations (see attached).  Genetics is far from a solved issue, so this is just my guesswork from what is known so far.  I'm sure there are other markers as well. Please see attached image for details.  I believe the source of the diagram attached is from https://www.ejog.org/article/S0301-2115(11)00115-1/abstract, but I use it mainly to understand the connections between the SNPs and the metabolism processes / enzyme impacts)
« Last Edit: May 01, 2024, 08:38:14 AM by ThisType »

berlin1984

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Re: Genetic profile results
« Reply #86 on: June 14, 2024, 06:52:34 AM »
I am still very interested in hearing more about your (all of you) mutations regarding iron metabolism.
More in this post: https://poiscenter.com/forums/index.php?topic=3535.msg48039#msg48039

Quantum

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Re: Genetic profile results
« Reply #87 on: June 14, 2024, 08:09:01 AM »
I am still very interested in hearing more about your (all of you) mutations regarding iron metabolism.
More in this post: https://poiscenter.com/forums/index.php?topic=3535.msg48039#msg48039
I have no significant SNPs in my Iron metabolism.   The only one I found is that I am Het for a position in COASY, which has no real consequences, as I can understand for now ( reported as benign on ClinVar).
« Last Edit: June 14, 2024, 08:11:23 AM by Quantum »
You are 100% responsible for what you do with anything I post on this forum and of any consequence it could have for you.  Forum rule: ""Do not use POISCenter as a substitute for, or to give, medical advice" Read the remaining part at http://poiscenter.com/forums/index.php?topic=1.msg10259#msg10259