SOD2 = mitochondrial superoxide dismutase
* Is usually found present with catalase except in the cerebral cortex and thyroid.
* Is also found in E coli, ferrous III enzyme.
* Is destroyed by gastric acid in oral supplementation.
* Often referred to as Mn.-SOD
* The mitochondrial electron transport chain produces superoxide as a byproduct. Superoxide is a free radical, and without SOD2, the mitochondrial membrane is then under direct exposure to hydroxy- radicals with little protection from oxidative damage. It is here that I wonder if histamine problems originate, correlating with lack of SOD2, the body recognizing the oxidative damage to the mitochondria and lack there of, of SOD2, and in an attempt to remedy the situation by producing more histadine to bind maganese, or some similar mechanism. Histidine being the precursor of histamine, overloading the bodies ability to dispose of histamine, due to the high levels being generated. And of course there are disposal mutations to consider as well as well as maganese levels and transport. (What I can offer, is my own personal observation, the more antioxidants I take, the less problems with histamine I have.)
* SOD2 being connected to CYP1B1, because of PAH exposure and the oxidative damage occuring at higher levels due to mutations. SOD2 could easily be connected to many of the detoxification markers currently being tested and could be one of the top reasons why someone could get so ill. We have already read that knockout mice lacking SOD2 don't survive, other species can. So it may not explain longevity and disease, but with mutations down regulating its function, its clear that damage will occur and disease could manifest. And the first hit would be on the mitochondrial membrane.
CYP1B1
* Is associated with resistence to certain chemotherapy drugs.
* Avoid PAH exposure if mutation occurs.
* Part of Phase I conjugation.
* Is a monooxygenase which catalyzes drug metabolism, synthesis of cholesterol, steroids, and other lipids.
* Involved in the hydroxylation of estrogens as well. Remember estrogen is a steroid hormone.
* Association of mutations to colorectal cancer, multiple myeloma, breast cancer, glaucoma, and when occurring concurrently with a mutation in glutithione S-transferase, Non-Hodgkins Lymphoma.
* Exposure relevant ploymorphisms include CYP1B1, EPHX1, NQO1, GSTM1, GSTP1, and GSTT1.
* Correlation to endothelial dysfunction in the presence of yet another cholesterol associated polymorphism, APOE.
ACAT1
It would seem that many in the Autism forums do not have this particular mutation, (population frequency). I have to wonder about the ME/CFS arena. This would be a good poll for someone......hint, hint...
None-the-less, it is a cholesterol ester gene and I have it, but my son does not. Which leads to more cholesterol info. It also pertains to my own investigations through mutations in the APOA1.
I have hypocholesterolemia. Low cholesterol, hangs around 138. My son is the opposite. BUT, in my family, we have this thing with our toes, called syndactly. Ours is very minor, and not noticable unless we point it out. But in many of us, our 2nd and third toes are fused just at the bottom, so they look normal, but if you feel them, they are not normal. This is something that has always been accepted, and none of our physicians have noticed it either. Nor did we think to mention it.
LDL is important...too low of levels and you lose protection against infection, as it is protective to RBC's from bacterial endotoxin.
In looking at this, since I have encountered so many other cholesterol related mutations, I pursued this further and found the DHCR7 gene. This gene is directly correlated to Smith-Lemli-Opitz Syndrome, or SLOS. Interestingly, my son and I both have the mutation linked to SLOS. In the link, notice the reference to Autism as well.
DHCR7 rs4316537, risk = A
http://www.greatplainslaboratory.com/home/eng/FAQ-cholesterol.asp
Again, I was intrigued by yet another cholesterol mutation, so I pursued others.
Hypercholesterolemia is high cholesterol in the blood. Familial hypercholesterolemia is genetic, there are other types, such as polygenic. If mutations are found in any of the following, cascade testing of other cholesterol genes should be pursued in first generation family members. They mention a 12 LDL-c gene score. If anyone knows what that is, I am out of time, and would appreciate the help.
http://ghr.nlm.nih.gov/condition/hypercholesterolemia
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102597/
APOB
LDLR, recpetor
LDLRAP1, receptor
PCSK9
ANGPTL3
ABCG8, rs11887534 risk = C
So I looked those up, and I do have some, but my son's mutations are off the chain so far, and I do have some work to identify the homozygous mutations still. My mutations are clustered in the receptor and transport regions, where as his are clustered in the regulation of production.
Where I have not given specific rs numbers, its not that I don't have them, there are just many of them. You can correlate the readout with what 23andme gives you, and SNPedia for the latest correlations and risk alleles.
There are some other genes I didn't get a chance to look into. Those being ID1, SQLS, SQLE, and GLPT.
Vitamin D is responsible for binding cholesterol, another hint @ some help....
* Is usually found present with catalase except in the cerebral cortex and thyroid.
* Is also found in E coli, ferrous III enzyme.
* Is destroyed by gastric acid in oral supplementation.
* Often referred to as Mn.-SOD
* The mitochondrial electron transport chain produces superoxide as a byproduct. Superoxide is a free radical, and without SOD2, the mitochondrial membrane is then under direct exposure to hydroxy- radicals with little protection from oxidative damage. It is here that I wonder if histamine problems originate, correlating with lack of SOD2, the body recognizing the oxidative damage to the mitochondria and lack there of, of SOD2, and in an attempt to remedy the situation by producing more histadine to bind maganese, or some similar mechanism. Histidine being the precursor of histamine, overloading the bodies ability to dispose of histamine, due to the high levels being generated. And of course there are disposal mutations to consider as well as well as maganese levels and transport. (What I can offer, is my own personal observation, the more antioxidants I take, the less problems with histamine I have.)
* SOD2 being connected to CYP1B1, because of PAH exposure and the oxidative damage occuring at higher levels due to mutations. SOD2 could easily be connected to many of the detoxification markers currently being tested and could be one of the top reasons why someone could get so ill. We have already read that knockout mice lacking SOD2 don't survive, other species can. So it may not explain longevity and disease, but with mutations down regulating its function, its clear that damage will occur and disease could manifest. And the first hit would be on the mitochondrial membrane.
CYP1B1
* Is associated with resistence to certain chemotherapy drugs.
* Avoid PAH exposure if mutation occurs.
* Part of Phase I conjugation.
* Is a monooxygenase which catalyzes drug metabolism, synthesis of cholesterol, steroids, and other lipids.
* Involved in the hydroxylation of estrogens as well. Remember estrogen is a steroid hormone.
* Association of mutations to colorectal cancer, multiple myeloma, breast cancer, glaucoma, and when occurring concurrently with a mutation in glutithione S-transferase, Non-Hodgkins Lymphoma.
* Exposure relevant ploymorphisms include CYP1B1, EPHX1, NQO1, GSTM1, GSTP1, and GSTT1.
* Correlation to endothelial dysfunction in the presence of yet another cholesterol associated polymorphism, APOE.
ACAT1
It would seem that many in the Autism forums do not have this particular mutation, (population frequency). I have to wonder about the ME/CFS arena. This would be a good poll for someone......hint, hint...
None-the-less, it is a cholesterol ester gene and I have it, but my son does not. Which leads to more cholesterol info. It also pertains to my own investigations through mutations in the APOA1.
I have hypocholesterolemia. Low cholesterol, hangs around 138. My son is the opposite. BUT, in my family, we have this thing with our toes, called syndactly. Ours is very minor, and not noticable unless we point it out. But in many of us, our 2nd and third toes are fused just at the bottom, so they look normal, but if you feel them, they are not normal. This is something that has always been accepted, and none of our physicians have noticed it either. Nor did we think to mention it.
LDL is important...too low of levels and you lose protection against infection, as it is protective to RBC's from bacterial endotoxin.
In looking at this, since I have encountered so many other cholesterol related mutations, I pursued this further and found the DHCR7 gene. This gene is directly correlated to Smith-Lemli-Opitz Syndrome, or SLOS. Interestingly, my son and I both have the mutation linked to SLOS. In the link, notice the reference to Autism as well.
DHCR7 rs4316537, risk = A
http://www.greatplainslaboratory.com/home/eng/FAQ-cholesterol.asp
Again, I was intrigued by yet another cholesterol mutation, so I pursued others.
Hypercholesterolemia is high cholesterol in the blood. Familial hypercholesterolemia is genetic, there are other types, such as polygenic. If mutations are found in any of the following, cascade testing of other cholesterol genes should be pursued in first generation family members. They mention a 12 LDL-c gene score. If anyone knows what that is, I am out of time, and would appreciate the help.
http://ghr.nlm.nih.gov/condition/hypercholesterolemia
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102597/
APOB
LDLR, recpetor
LDLRAP1, receptor
PCSK9
ANGPTL3
ABCG8, rs11887534 risk = C
So I looked those up, and I do have some, but my son's mutations are off the chain so far, and I do have some work to identify the homozygous mutations still. My mutations are clustered in the receptor and transport regions, where as his are clustered in the regulation of production.
Where I have not given specific rs numbers, its not that I don't have them, there are just many of them. You can correlate the readout with what 23andme gives you, and SNPedia for the latest correlations and risk alleles.
There are some other genes I didn't get a chance to look into. Those being ID1, SQLS, SQLE, and GLPT.
Vitamin D is responsible for binding cholesterol, another hint @ some help....