TNT
Frequent Contributor (1K+ posts)
Member # 42349
posted
Those of you that have gotten the test done, is there any info concerning these porphyria specific genes?
ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS.
23andme would have to be cheaper than getting this done through a porphyria center. Please look at your test results and let me know if these snps are listed with your results.
thanks
Posts: 1308 | From Eastern USA | Registered: Oct 2013
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-------------------- --Lymetutu-- Opinions, not medical advice! Posts: 96222 | From Texas | Registered: Feb 2001
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TNT
Frequent Contributor (1K+ posts)
Member # 42349
posted
Yes, I am aware of this...it's disappointing. But the raw material would still be useful especially if these particular snps are included.
The only thing is, I don't know what the 23andme results show. If it lists the snps individually like Yasko's results, it would be fairly straightforward I think. Then a person could learn about those snps more in depth if it is a concern.
Has anyone gotten both Yasko's test, and 23andme? Are the formats anything similar. I would think 23andme would list the snps individually as either homozygous or heterozygous or no mutation found, as Yasko's does.
My clinical picture doesn't make complete sense, and I would like to find out if porphyria is part of the problem, but it's hard to know where to start because of a lack of specialists in this field, and difficulty in diagnosing.
Even if one would find a specialist, they will most likely run some genetic testing anyways-and at a steep price. So, this seems like a logical place to start if it provides the proper info.
thanks
Posts: 1308 | From Eastern USA | Registered: Oct 2013
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kidsgotlyme
Frequent Contributor (1K+ posts)
Member # 23691
posted
You wouldn't be able to get your medical information with 23 and me at this point. Hopefully they will be able to continue this great info in the future. So glad we got this done for my DD before they shut that part down.
-------------------- symptoms since 1993 that I can remember. 9/2018 diagnosed with Borellia, Babesia Duncani, and Bartonella Hensalae thru DNA Connections. Posts: 1470 | From Tennessee | Registered: Dec 2009
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Judie
Frequent Contributor (1K+ posts)
Member # 38323
posted
I don't know if either of these will help, but they are both for gene analysis. I'm waiting for my 23andme raw data to analyze.
If you try it, please let me/us know how it goes. I'm curious about porphyria too.
quote:Originally posted by kidsgotlyme: You wouldn't be able to get your medical information with 23 and me at this point. Hopefully they will be able to continue this great info in the future. So glad we got this done for my DD before they shut that part down.
The email that they sent to customers was that the raw data would still be available but their health interpretation is what would be "missing". So my understanding of that was that you could still get the raw health data and interpret it elsewhere. Hope that helps!
Posts: 173 | From Washington, DC | Registered: Oct 2013
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TNT
Frequent Contributor (1K+ posts)
Member # 42349
posted
I get that part...THEIR interpretation of the raw data (about the health evaluation)is not available with the results at this point.
But-(if you all can bear with me here)- what I am asking is for those who have done this test to check your results for a specific mention of the snps that I posted at the first post of this thread. That's all I'm looking for. Are these genes mentioned?:
ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS.
If you need to PM me, that will work too.
Posts: 1308 | From Eastern USA | Registered: Oct 2013
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posted
23 and me does include SNPs in each of these genes, but you need the specific SNP within the gene that is important to your need.
I'm looking at the raw data browser and gene UROS. It includes 17 specific SNPs. Each SNP corresponds to one pair of mutations. One from each parent.
So for example, at position 127477492 of the gene is SNP i5006626 which is either a G or T. I happen to be a GG which means I got a G from both parents.
Do you have the SMP list?
Many people pay to have the MTHFR methylenetetrahydrofolate reductase gene tested. 23andme does include the 677TT (rs1801133) and A1298C (rs1801131)SNPs. These 2 are considered important in the Methylation pathway in converting Folate to methyl-folate.
So you need to know the specific gene and SNP and which values represent harmful mutations. If you have 2 mutations, from both parents, then you are considered homozygous.
This means you got wild type mutations from both parents and the gene will misbehave in building its protein. Then you can look them up in the 23andme raw data viewer, if they included them in their chip.
Posts: 53 | From Jupiter | Registered: Aug 2013
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TNT
Frequent Contributor (1K+ posts)
Member # 42349
posted
Thanks, elara,
I appreciate the response. Maybe I'm somewhat misinformed or undereducated about this. Maybe it's not as cut and dried as I thought.
I guess one would have to know which variations code for porphyria. Boy, this is complicated!!
Before this partial shutdown, did 23andme give an analysis for porphyria that at least hinted at the chances of porphyria? In other words, could someone get any idea that they had it or not from the earlier test results?
I have not done the test, and do not have the SNP list. Can you find this separate from getting a test done? (I have done Yasko's test, though. It is much more expensive and I understand it doesn't give anywhere close to as much information)
Posts: 1308 | From Eastern USA | Registered: Oct 2013
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"The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme.
They manifest with either neurological complications or skin problems or occasionally both."
Genes code for the production of proteins and enzymes that are used in our VERY COMPLEX metabolic systems.
This Sigma Alrdrich chart gives a hint at the complexity of our metabolic systems pathways.
If any of the raw materials like Amnino Acids and vitamins.minerals etc.. are missing or any of the intermediate processes enzymes are built incorrectly due to gene polymorphisms ( errors), then it can cause a multitude of problems.
So you would need to research which genes and which SNPs affect these enzymes. Once you understood the SNPs and their effects, it might be possible to supplement as Dr Amy attempts to do for methylation SNPs.
There are websites out there that can take the SNPs 23andme chose to analyze and give you a report on how they might effect one metabolic process.
A good example is https://geneticgenie.org/methylation-analysis/ which will take the raw 23andme data and give a report similar to Dr Yasko's report except it doesn't provide supplement recommendations.
Maybe you can find a porphyria analyzer based on 23andme data.
But 23andme chose "interesting" SNPs and put them on a chip. They have added to the chip a few times. That chip only reads the specific SNPs put on the chip.
They probably chose them based on the SNPs most studied plus those relevant to ancestry.
That way they can tap into old and ongoing research of those SNPs.
Since SNPs are being discovered everyday, the 23andme set will become more and more incomplete every day.
If you paid $3000 and got you whole genome read, you would have every gene and every SNP. Then as research comes out, you would simply analyze your genome.
23andme is useful but VERY incomplete since the human genome has about 3 billion base pairs.
One SNP is one base pair.
I believe the latest 23andme chip covers about 3/4 million SNPs
Posts: 53 | From Jupiter | Registered: Aug 2013
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Judie
Frequent Contributor (1K+ posts)
Member # 38323
posted
Hi,
I found this paper that talks specifically about the genes you mention. There are links for each gene about 1/3 of the way down. I don't know if this goes in depth enough for your analysis.
Please let us know how it goes. I'm experiencing pre-frustration with getting my 23andme results, then not knowing how to analyze them.
Posts: 2839 | From California | Registered: Jul 2012
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Keebler
Honored Contributor (25K+ posts)
Member # 12673
Many good links here - with support detail for everyone, really. There may not be the specialized tests at some of the other links about 23&me or similar sites - but some of the support methods can help as porphyria can be "secondary" and more of an issue during liver stress even if not a genetic matter.
If genetic, of course, it would be nice to know about that but it's just really hard and so few doctors give it proper due.
IMO, many of the hospital deaths each year from medication are very likely due to porphyria that has gone undiagnosed. Now, we can do some things to possibly prevent porphyria-related problems even if we can't get definitive tests that are hard to come by.
Acetaminophen, though, is also responsible as it can cause severe toxic buildup in all cells, IMO. Highly overlooked complication. -
Posts: 48021 | From Tree House | Registered: Jul 2007
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Judie
Frequent Contributor (1K+ posts)
Member # 38323
posted
You can compare your 23andme results to this site to see some porphyria genes (and MANY other health issues):
map1131
Frequent Contributor (5K+ posts)
Member # 2022
posted
Thank you Judie, I awaiting my 23andme spit test results. Should be a couple more weeks.
Not sure if it will tell me anything I didn't already know or could have guessed was going on. We'll see.
But I've spent more money on more expensive stuff and I believe genes play a big roll in all of this.
The spit test was not easy for me. Dry mouth, dry eyes and other parts dry. It is suppose to take 2-5 minutes to get the spit up to the line.
Believe me it's not much. But it took me 20 minutes and working my jaws and trying to get mucus going in order to spit out the smallest bit of it.
I had to laugh at myself. I'm dry, bone dry. believe me I'm not dehydrated. I drink water all day long. My drink of choice.
Pam
-------------------- "Never, never, never, never, never give up" Winston Churchill Posts: 6478 | From Louisville, Ky | Registered: Jan 2002
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