The condition is caused by a loss-of-function mutation. It’s a statement about a protein, not about the whole person.
Edit: ChatGPT explains it better than I can.
The ABCC11 gene encodes an apical efflux pump that helps transport fatty compounds, or lipids, from cells into sweat. When the gene is non-functional, these lipids can’t cross the membrane barrier to reach the armpit. This prevents bacteria from accessing and metabolizing the organic compounds in sweat, which in turn reduces the production of odorant substances.
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.
For a few months, while I was taking Accutane, my earwax turned dry and flaky. It was awesome. It would come out much more easily, it wouldn’t accumulate, and for once my ears stopped producing so much liquid. But I imagine depending on your unique body, it could make things quite a bit worse if you manage to get an earwax blockage.
Disclaimer: do not take Accutane for more than a few months, unless your doctor really knows what they’re doing. Apparently there are significant risks associated with long-term usage.
And pure speculation, but I imagine if you’re not excreting that fat, you might lose a tiny bit less weight when exercising?
I get that part, but why is it a dysfunction? A specific mutation in the oculocutaneous albinism II gene causes less production of melanin in the iris resulting in blue eyes, but we don’t call that a dysfunction despite being more sensitive to light and an increased risk of age-related muscular degeneration. Why would a mutation that makes it so lipids can’t cross a membrane resulting in less odorous armpits be called a dysfunction?
Please see this comment. Also, I don’t know how exactly albinism works on the genetic level but it’s a recessive condition and those are often caused by loss-of-function mutations. I prefer the word “nonfunctional” rather than “dysfunctional” to describe genes and proteins in order to avoid the appearance of a moral judgement (although albinism is harmful, especially without modern technology) but “nonfunction” isn’t a word.
It’s usually a mutation that doesn’t allow the gene to work properly. An important part of the gene can be deleted or the DNA sequence is changed in some other way. Sometimes a change in just one letter of the code can break the functionality of the gene. When the cell tries to make a protein based on the mutated sequence, it produces a protein that cannot be used for any purpose in the body or it cannot produce the protein at all.
I should add that you can have many dysfunctional genes in your DNA without having any health problems if the genes regulate something optional like hair color and not vital like proper muscle production. So you can have lots of dysfunctional genes without having any medical dysfunction.
The condition is caused by a loss-of-function mutation. It’s a statement about a protein, not about the whole person.
Edit: ChatGPT explains it better than I can.
But are there negative ramifications of this mutation?
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.
For a few months, while I was taking Accutane, my earwax turned dry and flaky. It was awesome. It would come out much more easily, it wouldn’t accumulate, and for once my ears stopped producing so much liquid. But I imagine depending on your unique body, it could make things quite a bit worse if you manage to get an earwax blockage.
Disclaimer: do not take Accutane for more than a few months, unless your doctor really knows what they’re doing. Apparently there are significant risks associated with long-term usage.
And pure speculation, but I imagine if you’re not excreting that fat, you might lose a tiny bit less weight when exercising?
Interesting, but how is that relevant to the question:
It’s speculation, but from my experience with Accutane I can infer the following possibility:
Also speculation:
At the same time, east asian people are not known for having more trouble with being overweight. But that’s probably much more complicated.
I get that part, but why is it a dysfunction? A specific mutation in the oculocutaneous albinism II gene causes less production of melanin in the iris resulting in blue eyes, but we don’t call that a dysfunction despite being more sensitive to light and an increased risk of age-related muscular degeneration. Why would a mutation that makes it so lipids can’t cross a membrane resulting in less odorous armpits be called a dysfunction?
Please see this comment. Also, I don’t know how exactly albinism works on the genetic level but it’s a recessive condition and those are often caused by loss-of-function mutations. I prefer the word “nonfunctional” rather than “dysfunctional” to describe genes and proteins in order to avoid the appearance of a moral judgement (although albinism is harmful, especially without modern technology) but “nonfunction” isn’t a word.
Dysfunction of a gene. Not a dysfunction as in a health problem.
What is a dysfunction of a gene? Is it breaking chemistry?
It’s usually a mutation that doesn’t allow the gene to work properly. An important part of the gene can be deleted or the DNA sequence is changed in some other way. Sometimes a change in just one letter of the code can break the functionality of the gene. When the cell tries to make a protein based on the mutated sequence, it produces a protein that cannot be used for any purpose in the body or it cannot produce the protein at all.
I should add that you can have many dysfunctional genes in your DNA without having any health problems if the genes regulate something optional like hair color and not vital like proper muscle production. So you can have lots of dysfunctional genes without having any medical dysfunction.