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    Ein Gen, das bei Mutation eine Schädelfehlbildung verursacht, wurde gerade mit Schizophrenie in Verbindung gebracht


    Ein Gen, das bei Mutation eine Schädelfehlbildung verursacht, wurde gerade mit Schizophrenie in Verbindung gebracht

    https://www.sciencealert.com/a-missing-gene-that-warps-the-skull-may-plant-the-seeds-of-schizophrenia?utm_source=reddit_post

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    5 Comments

    3. nopersh8me on

      “So the researchers used MRI scans to investigate the brains of 80 human patients with 22q deletion syndrome, who have a missing section of chromosome 22 containing about 25 different genes. Up to 30 percent of people with this syndrome are diagnosed with schizophrenia at some point in their life, while just 1 percent of those without the deletion receive a diagnosis.“

      Interesting.

    4. rogoscivi on

      The link is click baity, but a quick Google search helps find an article with better details.

      In the title study they created mice with the TBX1 gene knocked out and found that these mice on dissection had down regulated expression of proteins associated with cleft palate in humans born with di George syndrome. Namely proteins involved in embryologic muscle development. One of the proteins that was unregulated by knocking out tbx1 was the gaba3 receptor.

      In humans di george (deletion of 22q11) is associated with a number of syndromic features including cleft palate, congenital heart disease, and an increase risk or autism and schizophrenia. Because losing the entire arm of a chromosome causes complex problems they’re trying to sort out which specific genes cause which problems to work backwards to identifying other people with genetic risks and maybe a target for treatment.

      Of the relevant proteins, this article posits that structural changes in brain development, particularly auditory processing is the possible link to schizophrenia. However, they have no data to prove this. In my opinion the upregulation of GABA 3 is more likely to cause issues. As we see in other diseases with increased aba activity (like acute alcohol withdrawal) lead to hallucinations and delusions although in that case the body down regulates relatively quickly (5-7 days).

      Citation to what I think is the source a 2018 publication

      https://doi.org/10.1016/j.archoralbio.2018.08.001

    5. OePea on

      That is so crazy I can actually feel it after shaving with my bare fingers Schizophrenia sucks so bad I’m so tired of everything all the time so this is really encouraging. I can feel the malformation on my skull it feels like it would be really easy to do some kind of combination or trepan and grinding down on it I. think its going to work since I never feel pain and wont need anasthetic anywhay and I’m setting it up so the tools are above me and I have to push up onto them so if anything goes wrong I will fall away safely. anyway I will also be recording so it’s time for me to go get cleaned up.Thank you kind stranger you savedmy life

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