ADPKD: molecular characterization and quest for treatment
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Updated: Aug 9, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
1Department of Urology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo, 173-8605, Japan. shorie@med.teikyo-u.ac.jp.
Abstract:
Autosomal-dominant polycystic kidney disease (ADPKD) is a common hereditary disease that features multiple cystogenesis in various organs and vascular defects. The genes responsible for ADPKD, PKD1, and PKD2 have been identified, and the pathological processes of the disease are becoming clearer. This review focuses on recent findings about the molecular and cellular biology of ADPKD, and especially on PKD1. PKD1 and its product, polycystin-1, play pivotal roles in cellular differentiation because they regulate the cell cycle and because polycystin-1 is a component of adherens junctions. A possible link between polycystin-1 and PPARgamma is discussed. The extraordinarily fast research progress in this area in the last decade has now reached a stage where the development of a remedy for ADPKD might become possible in the near future.
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