• I'm back on my BS 🤪@lemmy.autism.place
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    23 days ago

    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?

    • ArbitraryValue@sh.itjust.works
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      23 days ago

      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 a avoid the appearance of a moral judgement (although albinism is harmful, especially without modern technology) but “nonfunction” isn’t a word.

        • angrystego@lemmy.world
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          21 days ago

          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.