hydrogen silfide h2s genes

[xben]

Hi, i have been suffereing patm as long as i can remember...

has anyone done there ancestry dna. I went through my raw data and came up with defective genes that i read can upregulate hydrogen sulfide production


rs1021737(T;T)
CBS C699T rs234706 AG +/-
CBS A360A rs1801181 AG +/-
MTHFR C677T rs1801133 AA +/+

another random odour related one was

rs28940889(C;T)
Carrier of a (mild?) isovaleric acidemia mutation

anyone who is interested in this stuff please respond

Thanks

[Cecco]

I did a test on 23andme end of 2017, obviously they have changed the SNPs because I did not find a single one of yours in my results.

I did a full genome sequencing with Dante Labs but Promethease doesn't support their format and I have no idea how to convert it to SNPs any other way.

But I noticed your second SNP rs234706 is actually not marked as negative on SNPedia.

[Cecco]

OK, I found these three in the raw data of 23andme:

rs10217370 CC (don't know why there is an additional 0 at the end)
rs234706 AG
rs1801133 AG

[xben]

Nothing much connected :( I did ancestry and got good results and then I did 23 and me thinking it  would be better but had even less info ...

[pnut58]

Hi xben,

I’ve had this thing for decades (yes plural), and it sucks. I have also had the gene testing done in hopes of figuring it out. Of the mutations you listed, the one I share with you is CBS C699T. Here is what my report says about that type of mutation:  

*CBS Mutations*
CBS (cystathionine beta synthase) catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine. CBS defects are actually an upregulation of the CBS enzyme. This means the enzyme works too fast. In these patients, it's common to see low levels of cystathionine and homocysteine since there is a rapid conversion to taurine. This leads to high levels of taurine and ammonia. The CBS upregulation has been clinically observed to result in sulfur intolerance in some patients. It has also been observed that BH4 can also become depleted with a CBS upregulation. BH4 helps regulate neurotransmitters and mood. Other mutations, such as MTHFR A1298C, Chronic bacterial infections, and aluminum can also lead to low BH4 levels. Lack of BH4 can lead to mast cell degranulation and possibly mast cell activation disorder (MCAD).

Note: While some physicians think the CBS mutation is one of the most important mutations to address, there is very little medical research to support these claims and some doctors in the field disagree. In normal populations, studies have shown CBS upregulations to be protective against high homocysteine. However, CBS upregulations have shown to be harmful in Down Syndrome. Medical research has not determined if CBS upregulations are harmful in those with syndromes or disorders leading to impaired methylation.

I hope this helps us inch closer to finding a cure.

[xben]

Thanks for your response. Anything on this gene ? rs1021737(T;T)
Cystathionine gamma-lyase (CTH or CSE; also cystathionase)

[xben]

I read some of your posts and you seem to be quite educated . I have done many tests and would like to chat with you in real time if possible.  Are you on any of the discord channels?

[xben]

Well you order a kit from ancestry.com once they tell you which part of the world your from, you can download your raw gene file and can upload it to websites like genetic genie or promethease and it lists all your gene defects. i thought if a few people do it we can see if we have some defects in common

[Withoutluck]

Please, explain more about this.

[PatmSucks92]

What kind test was it? mouth swab or? Is it something that can be done by mail?