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Thread: Autism and genetic mutations

  1. #1
    Advisor Angela's Avatar
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    1 members found this post helpful.

    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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    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.

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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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    The authorities and the governments need to be a bit more supportive and properly concerned with this cases. And for us parents we need to be more, impervious on all this!!

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    Quote Originally Posted by Angela View Post
    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?
    I have two candidates in mind: insecticides in our food chain and age of parents when they had children. The older the parents, the more mutations they accumulate in their sperm/eggs because of all the insecticides/fungicides/herbicides and just plain old random mutations.

  6. #6
    Advisor Angela's Avatar
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    There is a huge imbalance in the effect of age on mutations in sperm/eggs between men and women. There is indeed a reason why sperm banks won't accept sperm from men over 48, and at some sperm banks even younger.

    Insecticides, food additives, pollution, drug use, both prescription and recreational, all play a part imo, as perhaps they play a part in declining sperm levels globally in men.

    Of course, it's not like ancient people didn't suffer health effects from their practices. The lungs of people who lived in caves or tents or small huts with
    open fires weren't pretty, and I'd love to know how many mutations sprang from working with metals. I think Otzi had arsenic in him if I remember correctly.

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    Actually guys, Angelaís article fits well with my family medical history. Almost all of Great Grandpa Haskellís descendants have either Autism or Bipolar. Grandpa Haskell lived on a farm that he inherited by his Grandpa Hiram Blackledge; he moved to Jet after getting struck by a musket I Gettysburg and survived.
    Iím not sure if I can comfortably say the same thing for everyone due to the Gettysburg injury but Iím glad that this article is there. :)
    Thanks so much for posting Angela
    https://www.findagrave.com/memorial/...ald-blackledge

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