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Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy

Author

Listed:
  • Ryoko Kuwayama

    (Osaka University
    Osaka University Graduate School of Medicine)

  • Keiichiro Suzuki

    (Osaka University
    Osaka University
    Osaka University)

  • Jun Nakamura

    (Osaka University)

  • Emi Aizawa

    (Osaka University)

  • Yoshichika Yoshioka

    (Osaka University
    National Institute of Information and Communications Technology (NICT) and Osaka University
    Osaka University)

  • Masahito Ikawa

    (Osaka University)

  • Shin Nabatame

    (Osaka University Graduate School of Medicine)

  • Ken-ichi Inoue

    (Kyoto University)

  • Yoshiari Shimmyo

    (Asubio Pharma Co., Ltd)

  • Keiichi Ozono

    (Osaka University Graduate School of Medicine)

  • Taroh Kinoshita

    (Osaka University
    Osaka University)

  • Yoshiko Murakami

    (Osaka University)

Abstract

Inherited glycosylphosphatidylinositol (GPI) deficiency (IGD) is caused by mutations in GPI biosynthesis genes. The mechanisms of its systemic, especially neurological, symptoms are not clarified and fundamental therapy has not been established. Here, we report establishment of mouse models of IGD caused by PIGO mutations as well as development of effective gene therapy. As the clinical manifestations of IGD are systemic and lifelong lasting, we treated the mice with adeno-associated virus for homology-independent knock-in as well as extra-chromosomal expression of Pigo cDNA. Significant amelioration of neuronal phenotypes and growth defect was achieved, opening a new avenue for curing IGDs.

Suggested Citation

  • Ryoko Kuwayama & Keiichiro Suzuki & Jun Nakamura & Emi Aizawa & Yoshichika Yoshioka & Masahito Ikawa & Shin Nabatame & Ken-ichi Inoue & Yoshiari Shimmyo & Keiichi Ozono & Taroh Kinoshita & Yoshiko Mur, 2022. "Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-30847-x
    DOI: 10.1038/s41467-022-30847-x
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    References listed on IDEAS

    as
    1. Keiichiro Suzuki & Yuji Tsunekawa & Reyna Hernandez-Benitez & Jun Wu & Jie Zhu & Euiseok J. Kim & Fumiyuki Hatanaka & Mako Yamamoto & Toshikazu Araoka & Zhe Li & Masakazu Kurita & Tomoaki Hishida & Mo, 2016. "In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration," Nature, Nature, vol. 540(7631), pages 144-149, December.
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