Advancements in Research on Genetic Kidney Diseases Using Human-Induced Pluripotent Stem Cell-Derived Kidney Organoids
Abstract
:1. Introduction
2. Human-Induced Pluripotent Stem Cells and Kidney Organoids System
3. Applications of Kidney Organoids for Genetic Kidney Disease Modeling
3.1. Autosomal Dominant Polycystic Kidney Disease
3.2. Autosomal Recessive Polycystic Kidney Disease
3.3. Fabry Disease Nephropathy
3.4. Gitelman Syndrome
3.5. Karyomegalic Interstitial Nephritis
3.6. Alport Syndrome
3.7. APOL1 Nephropathy
3.8. Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
3.9. Nephronophthisis (NPHP)
3.10. Autosomal Recessive Renal Tubular Dysgenesis (AR-RTD)
3.11. Nephrotic Syndrome
4. The Limitation of Kidney Organoids and Future Perspectives
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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Disease | Gene | Phenotype and Key Finding | Refs. |
---|---|---|---|
Autosomal Dominant Polycystic Kidney Disease | PKD1 or PKD2 | Cyst formation from tubules Cyst formation from tubules | [26,35,43] [44] |
Cyst formation from Ureteric bud | [45] | ||
GANAB, DZIP1L | Cyst formation from tubules | [46] | |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | Cyst formation from tubules | [47] |
Fabry Disease Nephropathy | GLA | Deformation of podocytes and tubular cells with accumulation of Gb3, increased oxidative stress and apoptosis | [48] |
Decreased α-Gal A activity and increased Gb3 deposition according to disease severity | [49] | ||
Gitelman Syndrome | SLC12A3 | Decreased expression of NCCT protein and RNA | [50,51] |
Karyomegalic Interstitial Nephritis | FAN1 | DNA repair impairment | [45,52] |
Alport Syndrome | COL4A5 | Altered expression of Type 4 Collagen α5 | [53,54] |
APOL1 Nephropathy | APOL1 | Transcriptomic profiling of APOL1 mutant organoid | [55,56,57] |
Nephronophthisis | IFT140 | Shortened, club-shaped primary cilia and Polarization defect | [58] |
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Na, D.H.; Cui, S.; Fang, X.; Lee, H.; Eum, S.H.; Shin, Y.J.; Lim, S.W.; Yang, C.W.; Chung, B.H. Advancements in Research on Genetic Kidney Diseases Using Human-Induced Pluripotent Stem Cell-Derived Kidney Organoids. Cells 2024, 13, 1190. https://doi.org/10.3390/cells13141190
Na DH, Cui S, Fang X, Lee H, Eum SH, Shin YJ, Lim SW, Yang CW, Chung BH. Advancements in Research on Genetic Kidney Diseases Using Human-Induced Pluripotent Stem Cell-Derived Kidney Organoids. Cells. 2024; 13(14):1190. https://doi.org/10.3390/cells13141190
Chicago/Turabian StyleNa, Do Hyun, Sheng Cui, Xianying Fang, Hanbi Lee, Sang Hun Eum, Yoo Jin Shin, Sun Woo Lim, Chul Woo Yang, and Byung Ha Chung. 2024. "Advancements in Research on Genetic Kidney Diseases Using Human-Induced Pluripotent Stem Cell-Derived Kidney Organoids" Cells 13, no. 14: 1190. https://doi.org/10.3390/cells13141190