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

Ryoko Kuwayama, Keiichiro Suzuki, Jun Nakamura, Emi Aizawa, Yoshichika Yoshioka, Masahito Ikawa, Shin Nabatame, Ken-ichi Inoue, Yoshiari Shimmyo, Keiichi Ozono, Taroh Kinoshita and Yoshiko Murakami ()
Additional contact information
Ryoko Kuwayama: Osaka University
Keiichiro Suzuki: Osaka University
Jun Nakamura: Osaka University
Emi Aizawa: Osaka University
Yoshichika Yoshioka: 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
Yoshiko Murakami: Osaka University

Nature Communications, 2022, vol. 13, issue 1, 1-16

Abstract: 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.

Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-022-30847-x Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-30847-x

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-022-30847-x

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().