this post was submitted on 26 Aug 2024
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Today I Learned

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[–] ArbitraryValue@sh.itjust.works 7 points 2 months ago* (last edited 2 months ago)

I'm not aware of any negative ramifications, but the naming is not a matter of ramifications. This isn't just an abstract change from more body odor to less body odor. Proteins are machines, there's a particular protein machine for moving certain molecules out of cells and into sweat, and in people with this mutation that machine doesn't work. Consider an analogy to a light switch. It's not a toggle between "emit brightness" and "emit darkness". There's a machine on the ceiling for converting electrical energy into light. When the switch is in one position that machine is functioning, and when the switch is in the other position the machine is not functioning. In other words, darkness isn't an alternate way for the machine to function, but rather the consequence of the machine not functioning.

The lightbulb analogy isn't perfect because you could say that the switch and lightbulb together are the machine, and that the function of this machine includes the capability to switch on and off in response to a signal. There are many proteins that can also be switched on or off and they're not "nonfunctional" even when they're "not functioning". However, this mutation doesn't create a protein that can be switched on and off, so I suppose you can think of it like smashing a light which you can't control with a switch. Maybe the light was annoying and you're happier without it, but you still broke it.