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논문분류	춘계학술대회 초록집
제목	CD2AP Regulates Renal Cystogenesis Through PKD2 Signaling Pathway
저자	Hyunglae Kim
출판정보	2025; 2025(1):
키워드	Kidney, Organoid, CD2AP, Cyst, PKD2
초록	A male patient with a kidney phenotype of polycystic kidney disease (PKD) was referred to our outpatient clinic. Genetic testing revealed he had a mutation in CD2-associated protein (CD2AP) without mutation in PKD1 or PKD2, the main pathogenic genes of PKD. CD2AP encodes a scaffolding molecule that regulates the actin cytoskeleton. The role of CD2AP for the development of PKD is unknown. In this study, we determined its role in PKD. We generated CD2AP mutant- human inducible pluripotent stem cell (iPSC) using the CRISPR–Cas9 genome-editing system. And then we differentiated to kidney organoids and finally generated the CD2AP-mutant kidney organoids. We analyzed the phenotype and determine the signaling pathway in the CD2AP-mutant kidney organoids. Western blot showed that the protein expression of CD2AP was significantly decreased in the CD2AP-mutant kidney organoids, which indicated the genetic mutation was performed in kidney organoids. Cystogenesis was increased in the CD2AP-mutant kidney organoids compared to wild type (WT) kidney organoids, which was enhanced by treatment of forskolin, a cyclic AMP activator. Interestingly, the protein expression of PKD2 was significantly decreased in the CD2AP-mutant kidney organoids compared to wild type kidney organoids, which indicated that CD2AP regulated the PKD2 expression. Our data showed that CD2AP regulates renal cystogenesis through PKD2 signaling pathway, which may be a novel therapeutic target for the PKD.
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