An ever-expanding story of cyst formation

• Verfasst von: Gallagher, Anna Rachel [VerfasserIn]
• Verfasst von: Obermüller, Nicholas [VerfasserIn]
• Verfasst von: Cedzich, Anna [VerfasserIn]
• Verfasst von: Gretz, Norbert [VerfasserIn]
• Verfasst von: Witzgall, Ralph [VerfasserIn]
• Titel: An ever-expanding story of cyst formation
• Verf.angabe: Anna Rachel Gallagher, Nicholas Obermüller, Anna Cedzich, Norbert Gretz, Ralph Witzgall
• E-Jahr: 2000
• Jahr: 28 April 2000
• Umfang: 11 S.
• Illustrationen: Illustrationen
• Fussnoten: Gesehen am 28.06.2022
• Titel Quelle: Enthalten in: Cell & tissue research
• Ort Quelle: Berlin : Springer, 1924
• Jahr Quelle: 2000
• Band/Heft Quelle: 300(2000), 3 vom: Apr., Seite 361-371
• ISSN Quelle: 1432-0878
• DOI: doi:10.1007/s004410000215
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Polycystic kidney disease PKD1 PKD2 Polycystin-1 Polycystin-2 Two-hit hypothesis Stop-signal hypothesis
• K10plus-PPN: 1808023323

Abstract

Autosomal-dominant polycystic kidney disease represents one of the most common monogenetic human disorders. The cloning of the PKD1 and PKD2 genes, which are mutated in far more than 90% of the patients affected by this disease, has generated high hopes for a quick understanding of the pathogenesis of cyst formation. However, these expectations have not yet been fulfilled, since the function of both polycystin-1 and polycystin-2, the two proteins encoded by PKD1 and PKD2, still remains a puzzle. In this review, we will highlight some of the characteristics of polycystic kidney disease, briefly touch on polycystin-1, and then go on to describe recent results of experiments with polycystin-2, since the latter is the major focus of our work. We will discuss new evidence which suggests that autosomal-dominant polycystic kidney disease actually behaves recessively on a cellular level. Finally, a model will be presented that tries to explain the available data.