IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v2y2011i1d10.1038_ncomms1453.html
   My bibliography  Save this article

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

Author

Listed:
  • Michael J. Devine

    (MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh
    UCL Institute of Neurology)

  • Mina Ryten

    (UCL Institute of Neurology)

  • Petr Vodicka

    (Roslin Institute, University of Edinburgh
    Institute of Animal Physiology and Genetics, CAS, v.v.i.)

  • Alison J. Thomson

    (Roslin Institute, University of Edinburgh)

  • Tom Burdon

    (Roslin Institute, University of Edinburgh)

  • Henry Houlden

    (UCL Institute of Neurology)

  • Fatima Cavaleri

    (MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh)

  • Masumi Nagano

    (MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh
    University of Tsukuba)

  • Nicola J. Drummond

    (MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh)

  • Jan-Willem Taanman

    (UCL Institute of Neurology)

  • Anthony H. Schapira

    (UCL Institute of Neurology)

  • Katrina Gwinn

    (Baylor College of Medicine, One Baylor Plaza)

  • John Hardy

    (UCL Institute of Neurology)

  • Patrick A. Lewis

    (UCL Institute of Neurology)

  • Tilo Kunath

    (MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh)

Abstract

A major barrier to research on Parkinson's disease is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells from patients and differentiate them into neurons affected by disease. Triplication of SNCA, encoding α-synuclein, causes a fully penetrant, aggressive form of Parkinson's disease with dementia. α-Synuclein dysfunction is the critical pathogenic event in Parkinson's disease, multiple system atrophy and dementia with Lewy bodies. Here we produce multiple induced pluripotent stem cell lines from an SNCA triplication patient and an unaffected first-degree relative. When these cells are differentiated into midbrain dopaminergic neurons, those from the patient produce double the amount of α-synuclein protein as neurons from the unaffected relative, precisely recapitulating the cause of Parkinson's disease in these individuals. This model represents a new experimental system to identify compounds that reduce levels of α-synuclein, and to investigate the mechanistic basis of neurodegeneration caused by α-synuclein dysfunction.

Suggested Citation

  • Michael J. Devine & Mina Ryten & Petr Vodicka & Alison J. Thomson & Tom Burdon & Henry Houlden & Fatima Cavaleri & Masumi Nagano & Nicola J. Drummond & Jan-Willem Taanman & Anthony H. Schapira & Katri, 2011. "Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus," Nature Communications, Nature, vol. 2(1), pages 1-10, September.
    • Handle: RePEc:nat:natcom:v:2:y:2011:i:1:d:10.1038_ncomms1453
    DOI: 10.1038/ncomms1453
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/ncomms1453
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/ncomms1453?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Satra Nim & Darren M. O’Hara & Carles Corbi-Verge & Albert Perez-Riba & Kazuko Fujisawa & Minesh Kapadia & Hien Chau & Federica Albanese & Grishma Pawar & Mitchell L. Snoo & Sophie G. Ngana & Jisun Ki, 2023. "Disrupting the α-synuclein-ESCRT interaction with a peptide inhibitor mitigates neurodegeneration in preclinical models of Parkinson’s disease," Nature Communications, Nature, vol. 14(1), pages 1-19, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:2:y:2011:i:1:d:10.1038_ncomms1453. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.