• Welcome to Phoenix Rising!

    Created in 2008, Phoenix Rising is the largest and oldest forum dedicated to furthering the understanding of and finding treatments for complex chronic illnesses such as chronic fatigue syndrome (ME/CFS), fibromyalgia (FM), long COVID, postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and allied diseases.

    To become a member, simply click the Register button at the top right.

AGXT2 and pyruvate metabolism

Messages
19
I've literally just discovered that I am homozygous for AXGT2 rs37369(C;C) which if I understand well is implicated in faulty alanine metabolism. Has anyone read anything about this? Am I right in my suspicion that this could have direct effects on the levels of pyruvate available for acetyl co A production? The best article I found about it so far is the one below. I would appreciate any input as I'm really struggling with my brain fog today. Thanks

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254113/
 

alicec

Senior Member
Messages
1,572
Location
Australia
I am homozygous for AXGT2 rs37369(C;C)

That is the normal or ancestral version of the gene with a frequency for the C allele of about 0.8. So most people have that version.

Am I right in my suspicion that this could have direct effects on the levels of pyruvate available for acetyl co A production?

No. Pyruvate for use in energy production is predominantly produced by glycolysis, the breakdown of glucose.

The amount of pyruvate produced by this enzyme in the course of its normal amino transferase activity is trivial in comparison and is incidental to its role.

Pyruvate and alanine just act as acceptors and donators of amino groups which are needed to process the various other substrates shown in Fig 1 of the study you linked.

It is the processing of these other substrates which is the function of this enzyme.

Other aminotransferases use pyruvate and alanine in a similar way and the pool of these substances is vast.
 

Ravn

Senior Member
Messages
147
SNPedia can be a good for a quick check to see if a snp is the normal variation or the bad one. Search for the snp, e.g. rs37369 and look at the boxes at bottom right of the page. There is often an indication which allele is considered the risky one. In this case T is the bad version.
https://www.snpedia.com/index.php/Rs37369
 

aquariusgirl

Senior Member
Messages
1,732
I have a lot of red & yellow @ the AGXT Snps .....they are B6 dependent ....,Sterling Hill is flagging them up now in connection with Alzheimer’s.

This paper mentions glyoxolate & oxolates......which seem to be a major issue for me. Tnx for posting.
 

alicec

Senior Member
Messages
1,572
Location
Australia
SNPedia can be a good for a quick check to see if a snp is the normal variation or the bad one. Search for the snp, e.g. rs37369 and look at the boxes at bottom right of the page. There is often an indication which allele is considered the risky one. In this case T is the bad version.

SNPedia doesn't always interpret things correctly.

In the example you give, one of the boxes at the bottom shows C as risk. I followed the reference they gave and found that it was confirming previous associations of the SNP with 3 aminoisobutyrate in urine.

That association is with the variant - ie T, not C. See for example the OMIM entry.

I always go first to the NIH database dbSNP for basic info on any SNP. It gives all the basic info and links to research.

For this SNP see here. OMIM also gives a good summary of the protein, known genetic variants and links to disease.
 

alicec

Senior Member
Messages
1,572
Location
Australia
I have a lot of red & yellow @ the AGXT Snps .....they are B6 dependent ....,Sterling Hill is flagging them up now in connection with Alzheimer’s.

AGXT1 seems to be the major processor of glyoxylate, not AGXT2 which is mentioned in this thread.

I would take Sterling Hill's flagging of SNPs with great caution. She goes in for quantity, not quality - in other words there is little or no evidence that many of the variants she identifies have any significance.
 
Messages
19
Thanks guys. One less thing to worry about. I do read and research but it's sometimes hard to understand/interpret what you've got in front of you especially on a bad day.

@alicec
I am trying to find ways of boosting my ATP production. I was thinking that increasing the citric acid cycle substrates might be a way of doing this but your above comments have me wondering if I shouldn't be focussing on cofactors instead. What do you think please? Thanks!