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23andme Results. Interesting mutations

Messages
77
Hello guys, I'm a first time poster but a long time lurker here. I recently got my 23andme results back and put them through genetic genie. I needed some help interpreting them and where I should go from here.

"Here are your homozygous mutations as indicated in your SNP gene table above (not including MTHFR):

  • MAO-A R297R
Here are your heterozygous mutations as indicated in your SNP gene table above (not including MTHFR):

  • VDR Bsm
  • VDR Taq
  • MTRR A664A
  • BHMT-08
  • CBS C699T"

I have no MTHFR mutations (thank god). On my detox profile the only mutation that stood out was:

SOD2 A16V ra4880 AG +/-

My life long problems have been anxiety, energy drains, sometimes a severe mental fog takes over me and I can't even speak properly, the symptoms are eerily similar to my grandmas Alzheimer's and I really would like to avoid going down that path. Mental retardation, clouded thinking, extreme anger spells, irrationality depending on how anxious I am, speech impediments (this one hurts the most), and OCD.

Now, I dug up some info on several mutation websites including Yasko's research, and came down to several conclusions on supplements that could potentially make a difference

MAO-A R297R: Low MAO-A activity:
TAKE: b2, progesterone cream, 2mg copper, forksolin, extra virgin olive oil, ginko biloba
DONT TAKE: circumin, quercentin fish oil, and maybe resveratrol

BHMT-08:
-lower homocysteine with p5p

MTRR:
-low dose mb12 every few days (conflicting because I don't react well to MB12)

CBS:
-increase bh4, don't take coq10 because it's a lipid donor

BHMT:???

SOD2:
-progesterone cream
-magnanese

VDR:
-Sage
-Rosemary

To further complicate things, i also put my raw data through nutrahacker and it said I have homozygous mutations for COMT, GAD1 and a few other genes. This would explain why I don't react positively to mb12, but why were Genetic Genie's results much different?

If anyone can help me I'd appreciate it
 
Messages
15,786
Now, I dug up some info on several mutation websites including Yasko's research, and came down to several conclusions on supplements that could potentially make a difference
Yasko's claims regarding problematic SNPs are wrong at least as often as they're right. Those SNPs frequently have never been researched, or have even been shown to have no effect.
BHMT-08:
-lower homocysteine with p5p
BHMT-08 has very little impact, and even less when heterozygous.
MTRR:
-low dose mb12 every few days (conflicting because I don't react well to MB12)
MTRR mutations are only significant when homozygous or compound heterozygous. MTRR A664 has very little effect in any event.
CBS:
-increase bh4, don't take coq10 because it's a lipid donor
CBS C699T also has almost no impact, and the "+" allele is mildly beneficial.
To further complicate things, i also put my raw data through nutrahacker
Nutrahacker cuts-and-pastes things it finds on the internet, with no apparent understanding of them.

Sorry :p
 
Messages
77
Yasko's claims regarding problematic SNPs are wrong at least as often as they're right. Those SNPs frequently have never been researched, or have even been shown to have no effect.

BHMT-08 has very little impact, and even less when heterozygous.

MTRR mutations are only significant when homozygous or compound heterozygous. MTRR A664 has very little effect in any event.

CBS C699T also has almost no impact, and the "+" allele is mildly beneficial.

Nutrahacker cuts-and-pastes things it finds on the internet, with no apparent understanding of them.

Sorry :p
Ah ok this is very helpful! I knew I shouldve posted here before spending all that money lol. In regards to my MAO-A mutation is there anything else I can do to?
 
Messages
15,786
In regards to my MAO-A mutation is there anything else I can do to?
I don't really know anything about MAOA or your symptoms. But my general impression is that all varieties of the MAOA are extremely common, and don't themselves contribute much at all to any particular dysfunction.
 
Messages
77
I managed to pull up the nutra hacker results for you guys. I have way more mutations than I thought I did according to this. Can anyone chime in and let me know what I should be taking care of first?
 

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Messages
77
I don't really know anything about MAOA or your symptoms. But my general impression is that all varieties of the MAOA are extremely common, and don't themselves contribute much at all to any particular dysfunction.
I was under the impression that a lack of MAO-A causes a nasty build up of neurotransmitters in the brain. I always feel the effects of exotocicity when I get anxious: I get tongue twisted and turn into a total scatter brain! I know it's exotocicity because I'd feel EXACTLY the same way whenever I drank diet coke/coke zero, and aspartame is known to cause cell death via exotocicity. I feel like there's a connection between glutamate build up in my body and my anxiety...

This sounds like im venting a little, but I guess thats exactly what I'm doing. I've never had the chance to talk about this with someone else lol
 
Messages
15,786
I was under the impression that a lack of MAO-A causes a nasty build up of neurotransmitters in the brain.
Basically people who produce them faster usually also seem to break them down faster.

MAOA, COMT, and VDR are mentioned in the context of methylation not due to mental health, but because of the theory that they affect the usage of methyl groups, and methylB12 or hydroxoB12 might be the better choice, depending.

But in reality, people's reported experience of hydroxoB12 compared to methylB12 doesn't seem to have a consistent relationship to MAOA, COMT, or VDR.
 

caledonia

Senior Member
You need to pair genetic info with functional testing such as the Nutreval test to see what's actually going on in your body. SNPs are just potentials which may or may not be expressed. There also might be things going on with your gut or with metals such as mercury.

GAD mutations could explain anxiety and excitotoxicity from a GABA/glutamate imbalance. GABA is calming and glutamate is stimulating, so if your glutamate is higher than your GABA you will be prone to anxiety.

Some GABA or theanine supplementation and avoiding processed foods and foods naturally high in glutamates could be helpful. Foods naturally high in glutamate are things like Parmesan cheese, tomatoes and mushrooms. There's one more I can't remember.

Nowadays there are more and more methylation doctors, so you don't have to go it alone. See the practitioner links in my signature link. Several will work by phone and email.
 
Messages
77
You need to pair genetic info with functional testing such as the Nutreval test to see what's actually going on in your body. SNPs are just potentials which may or may not be expressed. There also might be things going on with your gut or with metals such as mercury.

GAD mutations could explain anxiety and excitotoxicity from a GABA/glutamate imbalance. GABA is calming and glutamate is stimulating, so if your glutamate is higher than your GABA you will be prone to anxiety.

Some GABA or theanine supplementation and avoiding processed foods and foods naturally high in glutamates could be helpful. Foods naturally high in glutamate are things like Parmesan cheese, tomatoes and mushrooms. There's one more I can't remember.

Nowadays there are more and more methylation doctors, so you don't have to go it alone. See the practitioner links in my signature link. Several will work by phone and email.
Thank you for the response, I've avoided a few trigger foods for a while thinking histamine was the issue and I felt my head clear up! Cheese, guacamole, kidney beans and liquor are the biggest culprits so far, and any meat that's been out for too long also gets me woozy.

L-theanine is a life saver for me, I don't go a day without it. Any other supplements you'd suggest for my mutations??
 

Oci

Senior Member
Messages
261
Could you explain what you mean here please? The snp is part of the gene and will be expressed whenever the gene is expressed.
I have just been looking at the MTHFR Support site and my variant report + the Snp Bit videos. I wonder what you all think about the quality/accuracy of the information in the videos?
I also am thinking that the body has many ways of doing things and if one pathway is not working well that there are likely other pathways - some on genes/snps not tested by 23andme. In other words, one snp is not the whole story.
What I have found out, however, is that I have several snps that indicate a problem with caffeine and estrogen metabolism. I believe now that I must get off caffeine. I have had 2 hormone related cancers. I worry for my daughters.
 
Messages
77
Is there another reliable methylation/detox profile website besides Genetic Genie and Nutrahacker? I tried Promethease and didn't understand it at all
 

Oci

Senior Member
Messages
261
Is there another reliable methylation/detox profile website besides Genetic Genie and Nutrahacker? I tried Promethease and didn't understand it at all
MTHFRsupport.com is another one. I do not know how accurate they are but they give a lot more information than GG.
 

caledonia

Senior Member
Could you explain what you mean here please? The snp is part of the gene and will be expressed whenever the gene is expressed.

You're born with certain SNPs. If you are healthy, your SNPs are likely not expressed. If you start to experience health issues, some SNPs may be expressing, while others are not.

For example, I have ME, so whatever SNPs are involved with that are likely expressed. However, I also have Alzheimer SNPs, but I don't have Alzheimers and don't have a family history of it. So that is likely not expressed, although the potential is there.

MTHFR is an example of a SNP which is likely always expressed, but if you live in a toxin free and stress free environment and eat nutritious food, you can bypass it, and it won't cause health issues.

The concept of gene expression caused by environmental influences is called epigenetics. The concept of bypassing SNPs with diet, lifestyle changes and supplements is called nutrigenomics.
 

caledonia

Senior Member
I have just been looking at the MTHFR Support site and my variant report + the Snp Bit videos. I wonder what you all think about the quality/accuracy of the information in the videos?
I also am thinking that the body has many ways of doing things and if one pathway is not working well that there are likely other pathways - some on genes/snps not tested by 23andme. In other words, one snp is not the whole story.
What I have found out, however, is that I have several snps that indicate a problem with caffeine and estrogen metabolism. I believe now that I must get off caffeine. I have had 2 hormone related cancers. I worry for my daughters.

It sounds like you would want to test your estrogen levels and then take measures to lower estrogen, to see if it helped.

Eating cruciferous veggies or taking DIM, IC3, or if you have CBS issues, calcium D glucarate will also lower estrogen.

There may be some other things you can do if you have COMT mutations, which also play into having estrogen dominance.
 

Oci

Senior Member
Messages
261
Eating cruciferous veggies or taking DIM, IC3, or if you have CBS issues, calcium D glucarate will also lower estrogen.

There may be some other things you can do if you have COMT mutations, which also play into having estrogen dominance.
Thanks Caledonia, I do have COMT++. Can you tell me what might help with it?
 

Oci

Senior Member
Messages
261
MTHFR is an example of a SNP which is likely always expressed, but if you live in a toxin free and stress free environment and eat nutritious food, you can bypass it, and it won't cause health issues.
I have heterozygous MTHFR C677T. There was no indication on the Great Plains OAT test that I was low in folate or B12. Would you trust this test to show up a deficiency?
 
Last edited:

alicec

Senior Member
Messages
1,572
Location
Australia
your SNPs are likely not expressed

That's the bit I don't understand. It is genes that are or are not expressed, regardless of what snps they contain - and epigenetics refers to factors other than the genetic code which influence the expression of genes - again regardless of what snps they contain.

I'm trying to understand how a snp could not be expressed. Do you mean the gene containing it would not be expressed? So in the case of a homozygous snp does this mean there would be no gene product?
 

alicec

Senior Member
Messages
1,572
Location
Australia
I have just been looking at the MTHFR Support site and my variant report + the Snp Bit videos. I wonder what you all think about the quality/accuracy of the information in the videos?

The information about metabolic pathways, where the various genes fit in and what they do is fine. The problem lies with the list of snps for the various genes. There is very little quality control and the impression is given that all the listed snps mean something. In reality many of them mean very little or there is simply no research.

Unfortunately with any of these sites identifying snps, we can't just take their word that the snps have serious implications. We need to do further research to evaluate this.