Polycystins: multi-purpose Cellular Tools?

Abstract

Autosomal Dominant Polycystic Kidney Disease, ADPKD, is a common inherited disorder that affects the kidneys. Progressive development of renal cysts ultimately results in chronic renal failure. To develop therapies for ADPKD patients, further insight into the mechanism of cyst formation is required. We set out to investigate the molecular and cellular processes that are disrupted in ADPKD. In the introduction, normal function of the kidney and renal epithelium is discussed. This is followed by an overview of the literature available on the structural and functional properties of polycystin-1 and polycystin-2, the proteins responsible for ADPKD. Finally, our data on polycystin-1 and polycystin-2 function and ADPKD cyst formation is outlined and discussed in the remainder of the thesis.