I Did The 23Andme Thing

[sue1234]

Just curious where everyone goes to talk about results? And, where to find out more on the SNPs? I see I can find the individual things online, but that doesn't say much. For instance, I can look at a SLC gene, find out I am heterozygous where they say homozygous is normal, but how do you figure out if that means anything? And, does having 5% SNPs wrong of a gene better than having 30% SNPs wrong? I also did the Yasko methylation thing and that seemed to make sense of some data. Are there other "cycles" besides the methylation(&it's relatives) to see what data means something?

I downloaded it into the Promethease and got those results.

Ultimately, I found out I have the compounded heterozygous MTHFR. I think this means I need to supplement with the methyl forms of folate and B12.

Besides that, I am very prone to having a clot!! I'm sure it has something to do with the MTHFR, and if all that could get worked out, maybe the clot issue won't become one.

[Birdlady]

Hey Sue! You may want to look at the thread I made about the NET missenses. I listed the RS Id's you will need to search for. However I am willing to share with everyone in PM all of my results on the SLC6A2 gene if you want.

I have no idea where people talk about this stuff. There isn't a place that I know of yet. I wanted to start a FB group, but not everyone is on there and I'm starting to back away from making my private FB all about health stuff. It's just too much for me to see and read all the time. I have been putting my obsessive health research on hold because it had started to become unhealthy.

I am willing to share genomes directly on 23andme and I will PM anyone my profile on there. Just send an invite that includes health reports (otherwise its pretty useless to share) and let me know you found me through Dinet or have POTS etc.

As for finding more about SNP's. You can type in the RS ID's directly into Google, dbSNP, SNPeffects, Exome Variant Server. It took me a good few months to get a good understanding of all of this. SImply having a "bad" allele does not mean it is causing issues. I'm not really sure what you mean by 5% or 30% SNPs are wrong. Every one including healthy individuals have "bad" alleles. That is one thing that I fear is not very well understood right now in the chronic illness community. I honestly don't know how else to explain it though. My love for researching and explaining things endlessly has mostly come to an end...

Anyway I just wanted to give you this information for whatever it is worth. Hopefully it can help.

[sue1234]

Thanks Dana!

I guess what I mean about SNPs gone "wrong" is, like if you look up something like MTHFR, and there is for instance, 30 SNPs there. If I compare them to what the things should be, like AA and I might be AG, then that's what I mean. Some of these genes I find about 10-20% of them are not correct. I didn't know if all people have a certain percentage of each gene has differences.

I am curious to see if any of it relates back to POTS. Just from the beginning of trying to understand the MTHFR methylation pathway, I can see where I methionine might not be produced in the end. When you read what methionine does in the body, it is needed to produce things like carnitine, which sometimes some around here benefit from.

And just the fact that the body might not be having the correct amount of folate and B12 to work correctly, besides all the build-up of the products of the cycle.

Anyway, I have the time and energy to research all this, just I wasn't making any headway other than the Yasko methylation cycle where I could have an "aha!" moment. Everything else that stands alone looks like greek!

[Dizzysillyak]

Hi sue,

What timing. I just ran into a thread on pheonix rising about this. The title is "doctoral student ... ".

Rich v posted a few minutes ago sbout which websites to go to.

Tc .. D

[Libby]

I've only glanced at the 23andme website, but if they're giving you the nucleotide coding sequence, something to keep in mind is that there's a 'wobble' factor with DNA coding. There are 64 possible codons (3 nucleotides in a row, which code for an amino acid in a protein), but only 20 amino acids. You're going to have a few codons which will end up giving you the same amino acid. So if you had GCT and the 'normal' genotype is GCC, you're still going to have a normal phenotype (a normal protein) b/c both GCT and GCC code for alanine.

Also, even if you have a missense mutation (a mutation which results in a different amino acid being substituted), it might or might not decrease the function of the protein. That section could be spliced out (i.e. an intron) or it could substitute an AA which is similar enough to the original that it doesn't really impact the protein folding, leaving it functional. Generally, you have a better chance of keeping the protein functional if an AA of a similar charge (positive, neutral, negative) is substituted in. On the other hand, the mutation could be in a critical region of the protein and render it useless. It really depends.

Annnnnd now I'm going back to studying for my MCAT. haha

[Birdlady]

Sue here are some tips I have for you.

There are different types of mutations and it's important to get a grasp on this for research.... http://ghr.nlm.nih.g...ssiblemutations

Science is still trying to sort through what SNP's are meaningful and what is not meaningful. For right now, SNP's that I pay attention to are those that are classified as missenses, frameshifts, deletions/insertions. I don't pay much attention to synonymous SNP's (unless very rare <1% frequency). Science is now suggestion synonymous mutations might have a purpose, but no one really knows why or how etc. I also don't really pay much attention to very common SNP's either even if they are missenses. For example the COMT mutations while are "neat" to find out, I doubt have much bearing on POTS. I have 2 COMT mutations, but another person on here with HyperPOTS has none.

Whenever you start to look into this, the important things to keep in mind that just because you have an allele change does not mean you are doomed or have a problem on a gene. A single allele change does not necessarily mean it is coding for a different amino acid. It is the amino acid change that causes disruption in gene function but even still this is not always clear cut.

Also be sure to check out the frequency rates of the genotypes you have for SNP's... If it's greater than 5% I really don't even look at it these days because 5% of the population does not have POTS. Does this make sense?

I am highly skeptical of any doc who thinks that any 20%-50% frequency SNPs could possibly be causing major issues with methylation.

That's my abbreviated "what to look out for" now that you have your results.

Edit: Yes Libby is absolutely correct. Thank you!

[sue1234]

Thanks everyone! Yes, I kind of understand, but at the same time, no. So, I'll just get busy learning what I can!