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Abstract: FR-PO0643

EB1-Regulated Microtubule Dynamics Drive Cyst Formation in ADPKD

Session Information

Category: Genetic Diseases of the Kidneys

  • 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases

Authors

  • Cebotaru, Valeriu, University of Maryland Baltimore School of Medicine, Baltimore, Maryland, United States
  • Barron, Eilley W, University of Maryland Baltimore School of Medicine, Baltimore, Maryland, United States
  • Outeda, Patricia, University of Maryland Baltimore School of Medicine, Baltimore, Maryland, United States
  • Yao, Qin None, University of Maryland Baltimore School of Medicine, Baltimore, Maryland, United States
  • Watnick, Terry J., University of Maryland Baltimore School of Medicine, Baltimore, Maryland, United States
Background

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease that affects up to 1 in 500 people and leads to end-stage renal disease in 50% of those affected. The causative genes Polycystic kidney disease 1 gene (PKD1) and PKD2 encoding for polycystin-1 (PC1) and polycystin-2 (PC2), respectively, were discovered more than 25 years ago. However, the precise mechanisms that cause cyst formation remain unclear. Microtubules (MTs) are essential cytoskeleton elements and play critical roles in cellular processes implicated in ADPKD, such as maintenance of cell shape and polarity, cell migration, and cell division. Here, we sought to test whether MTs are implicated in cyst formation.

Methods

We examined MT dynamics and their regulation in Pkd1 mutant and WT cells. Next, we treated conditional Pkd1 knockout mice with mebendazole, an MT targeting agent and examined cyst growth, and renal function.

Results

We demonstrate that MT dynamics are enhanced in Pkd1 mutant cells. This increase is driven by GSK3β activation, which accelerates MT growth through phosphorylation of end-binding protein 1 (EB1) at serine 155. We found that treatment with mebendazole slowed cyst progression and improved renal function in a Pkd1 ADPKD mouse model.

Conclusion

Taken together, our findings demonstrate that microtubule dynamics are altered in Pkd1 mutant cells and contribute to cyst formation. GSK3β-mediated phosphorylation of EB1 enhances microtubule growth, promoting cystogenesis. Importantly, treatment with mebendazole attenuates cyst growth and improves renal function in the Pkd1 knockout mouse model. These results highlight a novel role for microtubules in polycystic kidney disease and suggest that mebendazole may be a promising therapeutic candidate.

Funding

  • NIDDK Support

Digital Object Identifier (DOI)