Roles for retrotransposon insertions in human disease- ME/CFS?

Discussion in 'ME/CFS research' started by Amw66, Dec 19, 2023.

  1. Amw66

    Amw66 Senior Member (Voting Rights)

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    If there is a thread on this please move mods


    there is a current PhD funded looking into this type of genetic activity
    Identification of new classes of genetic susceptibility to ME (meresearch.org.uk)

    I didn't know what this was - from the ME research article

    "Retrotransposons are pieces of DNA often referred to as jumping genes because they can move around within the genome of a cell, potentially causing mutations (RIPs) that can change the function of that cell.

    RIPs have been implicated in the development and progression of disorders such as motor neurone disease and Parkinson’s disease, and this project aims to use genetic-sequencing data from the UK Biobank to determine whether a specific RIP or set of RIPs is also involved in ME/CFS."

    There are two mechanisms for TEs ( transposable elements) "copy and paste" which involves an RNA intermediate and "cut and paste" which involves DNA and is largely though to be inactive though conserved.

    There are different types of Retrotransposons- LTR ( Long terminal repeat) and non LTR ; LTR are also known as ERVs ( endogenous retro viruses)

    this paper gives an insight into how these work which is not too technical - there may bebetter ones
    Roles for retrotransposon insertions in human disease - PMC (nih.gov)

    Do we know of any other ME related research on this ?
    It looks both interesting and perhaps worth exploring .
     
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  2. SNT Gatchaman

    SNT Gatchaman Senior Member (Voting Rights)

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    Simon Carding mentions this while discussing the small number of studies looking at HERVs in ME/CFS in the recent NIH Webinar (5/8)

    https://www.youtube.com/watch?v=s1e4uWYJgGw




    At 2:34:13 "HERVs are a type of retrotransposon, which is like 'jumping genes'. So they can insert themselves, extricate themselves in various parts of the genome and insert themselves elsewhere. And the concept of transposable elements was discovered by Barbara McClintock who won the Nobel Prize."
     
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  3. MeSci

    MeSci Senior Member (Voting Rights)

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    I was wondering what RIP stood for, so clicked on the first link - it's "retrotransposon insertion polymorphism".
     
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