this post was submitted on 26 Aug 2024
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Today I Learned

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[–] [email protected] 101 points 2 months ago* (last edited 2 months ago) (12 children)

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.

[–] [email protected] -2 points 2 months ago (5 children)

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?

[–] [email protected] 5 points 2 months ago (3 children)

Dysfunction of a gene. Not a dysfunction as in a health problem.

[–] [email protected] 1 points 2 months ago (1 children)

What is a dysfunction of a gene? Is it breaking chemistry?

[–] [email protected] 2 points 2 months ago* (last edited 2 months ago) (1 children)

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.

[–] [email protected] 1 points 2 months ago* (last edited 2 months ago)

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.

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