Talk:ALDH2
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Article split?
[edit]@De la Marck: By consensus, the vast majority of Gene Wiki articles are about both the gene and the protein that is encoded by the gene. The properties of genes and proteins are so interrelated, it make senses to include both in the same article. The {{Infobox gene}} templates by design contain external links to information about the protein and gene and for consistency, we have merged a number of separate gene and protein articles in the past. Hence I propose that ALDH2 gene be merged back into this article. Boghog (talk) 05:46, 15 October 2016 (UTC)
- This one was so large and hairy that I consider it didn't quite fit the rule. Notice how in the previous version the enzyme and its encoding gene were illogically confused together? Putting them back together one would want to comb it out considerably. Also, most comparable articles are primarily about the enzyme/protein, and titled for such, but this was - albeit confusedly - more directly associated with the gene. Le Sanglier des Ardennes (talk) 06:18, 15 October 2016 (UTC)
- OK, I now see that the lead sentence in the pre-split version was not optimal. Concering the lead sentence in Gene Wiki articles, as discussed here and here, we have tried to make clear that these articles are not only about the human gene/protein, but also orthologs that exist in other species. The wording that was reached through consensus is perhaps a little awkward, but it is both accurate and concise:
- The "that" in the above sentence is non-limiting implying that the protein (and gene) exists in other species besides human. Would changing the the lead sentence in this article to the following:
- reduce the confusion? Boghog (talk) 06:59, 15 October 2016 (UTC)
- There’s some unfortunate remnants from pre-split that needs to be cleaned up, but bedtime’s not allowing me to do it right now. Specifically, I believe the lede is talking about isozymes too much when something as simple as "this is one of many, this one specifically lives in the micochondria and is good at processing ethanal" is enough — maybe just move "Isoforms" section to the lede. Also, "isoforms" means way too many things from splice variant to paralogs to, duh, isozymes for me to trust that word.
- I also don’t like relying too heavily on entrez summaries. Artoria2e5 🌉 14:43, 9 November 2023 (UTC)
Most common single point mutation in humans
[edit]The article quotes the abstract of a review as saying that the ALDH2*2 mutation is “the most common single point mutation in humans.”
This claim seems false, and borderline incoherent, because it’s not clear what counts as a mutation vs. the standard human variant of a basepair. There are “variants” that are different from GRCh38, but have a population frequency of like 99+%. If we look at the context of the article:
”Furthermore, an ALDH2 inactivating mutation (termed ALDH2*2) is the most common single point mutation in humans, and epidemiological studies suggest a correlation between this inactivating mutation and increased propensity for common human pathologies.”
it seems like what they might have meant that it is the most common inactivating single point mutation in humans, though even that seems like an extraordinary claim that’s hard to know given the large number of non-vital human genes, some that are broken as often as they are functional (though the ones I know are usually deletions not point mutations).
I tried looking at the references, but I’m not sure where this claim came from. A later article also from 2020 repeats this claim, but that one seems to just be plagiarizing this one.
There’s probably a correct formulation of this claim, something like “most common inactivating single point mutation associated with disease”, but I don’t want to remove a sourced claim without finding another sourced claim to replace it with Pabnau (talk) 17:56, 13 May 2026 (UTC)