An ever-expanding story of cyst formation.
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.
Institute for Anatomy and Cell Biology I, University of Heidelberg, Germany.
A R
AR
Gallagher
N
N
Obermüller
A
A
Cedzich
N
N
Gretz
R
R
Witzgall
D000311:Adrenal Glands / Q000378:metabolism; D000818:Animals; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005260:Female; D006031:Glycosylation; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism* / Q000502:physiology; D008954:Models, Biological; D010053:Ovary / Q000378:metabolism; D016891:Polycystic Kidney, Autosomal Dominant / Q000209:etiology* / Q000378:metabolism* / Q000473:pathology; D011506:Proteins / Q000235:genetics / Q000502:physiology; D051381:Rats; D012469:Salivary Glands / Q000378:metabolism; D050396:TRPP Cation Channels
D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels