If anyone feels generous enough to interpret my 23andme results...

[Aerose91]

.... I see a lot of you guys are way more informed about this than I am so if anyone feels inclined to check out my results I would be very grateful! Take any help I can get.

 

[tdog333]

Post them and I'll take a look

 

[Aerose91]

Sorry about that. The first files I uploaded were empty.

 

[tdog333]

No prob

Well you have a lot of mutations, If you haven't read heartfixer yet I strongly recommend it http://www.heartfixer.com/AMRI-Outcomes-Non-CV-Autism-Methyl Cycle.htm

I'll just give you a brief summary:
COMT breaks down dopamine byproducts, so an impairment in COMT means norepinephrine and epinephrine break down slower.

VDR=Vitamin D Receptor- The +/- VDR will help balance your +/- COMT. VDR receptor is a precursor to making dopamine.

MAO A is involved in the breakdown of serotonin, this one I'm a bit foggy on, an impairment either means you break down serotonin quickly or slowly, I can't remember sorry! I need to refresh on that.

MTHFR C677T is really bad, I'm sure you probably know about this one, but you have a high need for methyl folate, avoid folic acid! You are not able to effectively convert folic acid into 5-MTHF

MTRR is responsible for the formation of Methylb12.

The BHMT's are responsible for a shortcut in recycling B12, you can upregulate these by supplementing with TMG or Betaine HCL, but both of these are methyl donors.


Are you taking any methylfolate or any B12 yet?

CYP1A2 164a is part of the cytochrome P450 enzyme system in the liver. It's responsible for breaking down xenobiotic compounds

see more here:
http://en.wikipedia.org/wiki/CYP1A2

SOD A16V:

• Oxidative protection: converts reactive oxygen species into less reactive hydrogen peroxide.
• Protects cells from increased oxidative stress and free radical damage to cell structures like membranes, mitochondria, DNA, and proteins.
• SOD1 is present in the cytosol
• SOD2 is present in the mitochondria (where most of the body's energy is made) -- the primary anti-oxidant enzyme there

See more here:
http://www.canarys-eye-view.org/metabolic_basis/detoxification/detox-gen-ph2.html#sod_snp

Sorry this is a bit scatter brained, I'm having some die off right now as part of a new treatment I'm doing

 

[taniaaust1]

Here's some of my notes Ive copied from somewhere on one of your muations.GSTP1 I105V (rs1695) A,G,
Glutathione S-transferase P1
*Glutathione S-Transferase P1 (GSTP1) is an important enzyme in the detoxification of products of oxidative stress.

This SNP, in the
GSTP1 gene influences asthma risk; the (A) allele encodes the Ile, while the (G) allele encodes the Val. This SNP is also known as GSTP1Val105,

or GSTP1 Ile105Val
Despite evidence of antioxidant effects of vitamin E in vitro and in animal studies, large, randomized clinical trials have not substantiated a benefit of vitamin E in reducing inflammation in humans. In healthy control subjects, the effect of α-tocopherol supplementation on the production of inflammatory cytokines appears to be dependent on an individual's genotype. These genotype-specific differences may help explain some of the discordant results in studies that used vitamin E. Persons having the alleles AA or AG had an increase in interleukin-6 (IL-6) upon supplementing alpha-tocopherol (the most common form of Vitamin E in a North American diet) while those with GG saw a decrease. [
PMID 22572643]

This research paper shows that 13- to 21-year-olds exposed to tobacco smoke at home, with this mutation had more severe asthma than those without the mutation. rs1695 is also mentioned in this bbc article

Several papers published findings associating GSTP1 Ile105Val genotypes with bronchial, childhood, or atopic asthma. [
PMID 15612961]

A cohort of 1,610 children in the US were studied to determine that the risk for new-onset
asthma was highest in rs1695(A;A) homozygotes who participated in 3 or more sports in high-ozone communities. These children were at 6x higher risk (CI: 2.2-7.4). [PMID 18988661]

 

[Aerose91]

These are great, thanks guys. And no, I'm not taking any methylation supplements yet because I don't know what I should be taking. I do take b complex and b12 intramuscular once a week though.

 

[caledonia]

And no, I'm not taking any methylation supplements yet because I don't know what I should be taking. I do take b complex and b12 intramuscular once a week though.

You could already be taking methyl supplements and not know it - methylfolate, methylcobalamin, hydroxycobalamin (converts to methylcobalamin and adenosylcobalamin). Look for methyl in the name.

.... I see a lot of you guys are way more informed about this than I am so if anyone feels inclined to check out my results I would be very grateful! Take any help I can get.

Methylation SNPs

First Priority mutations - SHMT, unknown. SHMT is know as one of the "leaky gut genes". I would suggest treating for this if you have gut issues, just in case. You would taking folinic acid for that. Note some people don't tolerate folinic.

CBS - You have both the major and minor one, plus you have several BHMTs which can add to CBS or even create a CBS situation without having CBS SNPs. You have a lot going on that could cause a CBS problem. However, you only need to treat for CBS if it's expressed. So you would check to see if ammonia and or urine sulfate are high and that would indicate that CBS is expressed. The "poor man's test" is to just do urine sulfate strips and see if sulfate is consistently high. Other signs are problems tolerating sulfur foods and supps. Heartfixer has a good CBS protocol.

MTHFR C677T - that's the major one and you have a double mutation. That causes about a 70% reduction in function. So you would need some methylfolate for that.

You have a couple of MTRR's - that's B12 recycling. You look at your COMT/VDR taq combo to see the type of B12 needed. For you, Yasko suggests that you will be sensitive to methylcobalamin, so use hydroxycobalamin and adenosylcobalamin instead. Sensitive means it could cause mood swings.

BHMT is the secondary short cut methylation cycle. Yasko suggests sunflower lecithin which will convert to TMG for that.

VDR Bsm is the Vitamin D Receptor, so get your vit. D checked and if it's low, supplement for that.

MAO A affects serotonin. Yasko suggests getting all of the other methylation SNPs treated, then if you're still having mental health type problems to add sprinkles of 5htp. (Contraindicated if you're on an SSRI/SNRI.)

 

[caledonia]

Detox SNPs

CYP1A2 - slow caffeine metabolizer
CYP1B1 - can cause estrogen dominance and thus possibly estrogen related cancers - breast, cervical, etc. You can eat cruciferous veggies. Or if estrogen is high take DIM, IC3 or if you have CBS, calcium D glucarate.

CYP2C9 - detoxifies coumadin and sulfonylureas. If you need coumadin, a lesser amount may be best.

NAT - detoxifies smoke and petrochemicals so avoid those.

SOD2 - causes oxidative stress. can affect the mitochondria and so effect energy. You can do SODzyme supplements or mito supplements.

GSTP - affects glutathione. You have three mutations. I think that's about the worst combo I've seen so far - this is probably a huge reason why you're sick. Doing methylation supplements will bring up glutathione.

=-==-=-=-=-=
I have many useful links in my signature.

 

[Aerose91]

Thanks so much Caledonia!

I'm positive I'm not taking any methyl supplements as of now because I am careful and check everything.

Though that sucks to hear about the glutathione production. Is doing a methylation protocol enough to get everything back up and running the way it's supposed to? Or will there always be a deficit there.

I'm wondering if some of these findings explain why my brain symptoms are worse than basically 100% of people I've ever seen with this disease.

 

[Aerose91]

You could already be taking methyl supplements and not know it - methylfolate, methylcobalamin, hydroxycobalamin (converts to methylcobalamin and adenosylcobalamin). Look for methyl in the name.



Methylation SNPs

First Priority mutations - SHMT, unknown. SHMT is know as one of the "leaky gut genes". I would suggest treating for this if you have gut issues, just in case. You would taking folinic acid for that. Note some people don't tolerate folinic.

CBS - You have both the major and minor one, plus you have several BHMTs which can add to CBS or even create a CBS situation without having CBS SNPs. You have a lot going on that could cause a CBS problem. However, you only need to treat for CBS if it's expressed. So you would check to see if ammonia and or urine sulfate are high and that would indicate that CBS is expressed. The "poor man's test" is to just do urine sulfate strips and see if sulfate is consistently high. Other signs are problems tolerating sulfur foods and supps. Heartfixer has a good CBS protocol.

For the sulfate test would just a regular sulphate strip do the job or would I be better off buying KDM's H2S test?

Also, the leaky gut info is interesting to me- I'm currently doing a stool test to have things checked out but my diet has been impeccable for at least 10 years before ever becoming ill so I have always wondered why I have such bad leaky gut. This may give some insight.

Thank you again.

 

[caledonia]

For the sulfate test would just a regular sulphate strip do the job or would I be better off buying KDM's H2S test?

Also, the leaky gut info is interesting to me- I'm currently doing a stool test to have things checked out but my diet has been impeccable for at least 10 years before ever becoming ill so I have always wondered why I have such bad leaky gut. This may give some insight.

Thank you again.

I have a link to the right urine sulfate strips in my signature.