Mutations in the PKD1 gene, which encodes polycystin-1 (PC1), are responsible for ~78% of cases 2. It is characterized by the progressive development of fluid-filled cysts whose expansion compromise renal function and can lead to end-stage renal disease. Together, these results suggest that a short fragment of PC1 is sufficient to suppress cystic phenotype and open the door to the exploration of gene therapy strategies for ADPKD.Īutosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening monogenic disease, with a prevalence of ~1:1000 1. This interaction modulates tubular/cyst cell proliferation, the metabolic profile, mitochondrial function, and the redox state. This suppression depends upon an interaction between the C-terminal tail of PC1 and the mitochondrial enzyme Nicotinamide Nucleotide Transhydrogenase (NNT). We show that transgenic expression of a protein corresponding to the final 200 amino acid (aa) residues of PC1 in two Pkd1-KO orthologous murine models of ADPKD suppresses cystic phenotype and preserves renal function. C-terminal cleavage produces fragments that translocate to mitochondria. PC1 is a large 462-kDa protein that undergoes cleavage in its N and C-terminal domains. Mutations in the PKD1 gene, which encodes polycystin-1 (PC1), account for approximately 78% of cases. Please contact us if you have any questions or would like to renew your license/s.įor all Software Licensing questions please go to ITS Service Desk.Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent potentially lethal monogenic disorder. UCSD Prism agreement renewal starts the first week of February 2023.
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