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Abstract: PO0877

A Novel ADPKD Model Using Kidney Organoids Derived from Disease-Specific Human Induced Pluripotent Stem Cells

Session Information

Category: Development, Stem Cells, and Regenerative Medicine

  • 500 Development, Stem Cells, and Regenerative Medicine

Authors

  • Shimizu, Tatsuya, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
  • Mae, Shin-ichi, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
  • Araoka, Toshikazu, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
  • Yamagata, Kunihiro, Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan
  • Osafune, Kenji, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Background

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent hereditary diseases, accounting for up to 10% of end-stage kidney disease worldwide. Although many disease models have been proposed for ADPKD, the pre-symptomatic pathology of the human disease remains unknown and no definitive therapies are currently available. To elucidate the mechanisms of early cytogenesis, robust and genetically relevant human models are needed.

Methods

Using a stepwise differentiation protocol that we have recently reported (Tsujimoto H. et al., 2020), we generated kidney organoids from two kinds of disease-specific human induced pluripotent stem cells (hiPSCs), PKD1 gene-edited hiPSCs and ADPKD patient-derived hiPSCs. We applied chemical treatment to reproduce cystic phenotypes within kidney organoids, quantitatively analyzed macroscopic cystic lesions, and performed immunofluorescence analyses. ADPKD patient-derived kidney organoids were further utilized to examine the effects of known inhibitors of cystogenesis.

Results

Although wild-type organoids developed cystic lesions under forskolin, PKD1-mutant organoids exhibited significantly larger cystic areas depending on the PKD1 genotype. Importantly, ADPKD patient-derived kidney organoids as well as gene-edited heterozygous PKD1-mutant ones also recapitulated cystogenesis in vitro. Immunofluorescence analyses confirmed that the cyst epithelia predominantly originate from LTL-positive cells. Furthermore, inhibitor experiments suggested the predictive validity of patient-derived kidney organoids as a disease model.

Conclusion

We established a novel model for ADPKD using kidney organoids differentiated from gene-edited PKD1-mutant and ADPKD patient-derived hiPSCs. Further, we demonstrated the possibility of ADPKD kidney organoids serving as drug screening platforms. This newly developed model will contribute to identifying novel therapeutic targets, extending the field of ADPKD research.

Funding

  • Government Support - Non-U.S.