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Thread: Autism and genetic mutations

  1. #1
    Advisor Angela's Avatar
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    Autism and genetic mutations

    See:
    https://www.biorxiv.org/content/10.1...01.29.428895v1

    "Abstract

    Retrotransposons are dynamic forces in evolutionary genomics and have been implicated as causes of Mendelian disease and hereditary cancer, but their role in Autism Spectrum Disorder (ASD) has never been systematically defined. Here, we report 86,154 polymorphic retrotransposon insertions including >60% not previously reported and 158 de novo retrotransposition events identified in whole genome sequencing (WGS) data of 2,288 families with ASD from the Simons Simplex Collection (SSC). As expected, the overall burden of de novo events was similar between ASD individuals and unaffected siblings, with 1 de novo insertion per 29, 104, and 192 births for Alu, L1, and SVA respectively, and 1 de novo insertion per 20 births total, while the location of transposon insertions differed between ASD and unaffected individuals. ASD cases showed more de novo L1 insertions than expected in ASD genes, and we also found de novo intronic retrotransposition events in known syndromic ASD genes in affected individuals but not in controls. Additionally, we observed exonic insertions in genes with a high probability of being loss-of-function intolerant, including a likely causative exonic insertion in CSDE1, only in ASD individuals. Although de novo retrotransposition occurs less frequently than single nucleotide and copy number variants, these findings suggest a modest, but important, impact of intronic and exonic retrotransposition mutations in ASD and highlight the utility of developing specific bioinformatic tools for high-throughput detection of transposable element insertions."



    What I'd really like to know is if the cases have really increased in the last forty to fifty years, and if so, why? Drug use? Environmental contaminants?


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  2. #2
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    Autism is mainly due to older men producing children. Men are responsible for most mutations during spermagenesis, women produce chromosomal errors.

    There are more and more Males in Western countries reproducing at an older age. And there is a reason why Sperm Banks reject men over 48. Most Autism is minor being like Asperger's or High Functioning Autism and the bearers may not know they are autistic.

  3. #3
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    Ozzie gave a good reply here, but part of what you see could as well be due to authism now beeing more detectable. For example if our society is somehow more disabling to authist children than it was earlier on, more parents would go to the doctor complain, and that would end in a higher diagnosis rate.

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