• I'm back on my BS 🤪@lemmy.autism.place
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    2 months 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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      2 months 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 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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          2 months 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.

          • angrystego@lemmy.world
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            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.