Nephrocystin and ciliary defects not only in the kidney?

• Published in: Pediatric nephrology (Berlin, West) Vol. 22; no. 6; pp. 765 - 769
• Main Authors: von Schnakenburg, Christian, Fliegauf, Manfred, Omran, Heymut
• Format: Journal Article
• Language: English
• Published: Germany Springer 01.06.2007; Springer Nature B.V
• Subjects: Adaptor Proteins, Signal Transducing; Animals; Biomarkers - metabolism; Cilia - metabolism; Complications and side effects; Development and progression; Humans; Kidney Diseases, Cystic - metabolism; Kidney, Cystic; Membrane Proteins; Patient outcomes; Photoreceptor Cells, Vertebrate - metabolism; Pigment Epithelium of Eye - metabolism; Proteins - metabolism; Respiratory Mucosa - metabolism; Retinal Degeneration - metabolism; Risk factors; United States
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s00467-007-0434-1

Cystoproteins have been recognized to play a major role in the development of cystic kidney diseases (CKDs) via interaction with the cilia/centrosome complex. We highlight our present knowledge on nephrocystin as the defective protein in nephronophthisis type I. Nephrocystin has been localized to the ciliary transition zone not only of renal tubule cells but also of respiratory and retinal cilia. Thus, multi-system involvement as in Senior-Løken-syndrome (retinal degeneration plus nephronophthisis) can be explained by a functional ciliary defect in various tissues. In addition, we illustrate that ciliated respiratory cells have a high potential for diagnostics in CKDs and will further aid understanding of the underlying molecular mechanisms.