Cilia in cystic kidney and other diseases
Program in Molecular Medicine; Graduate School of Biomedical Sciences
Cell Biology | Cellular and Molecular Physiology | Female Urogenital Diseases and Pregnancy Complications | Male Urogenital Diseases | Urogenital System
Epithelial cells lining the ducts and tubules of the kidney nephron and collecting duct have a single non-motile cilium projecting from their surface into the lumen of the tubule. These organelles were long considered vestigial remnants left as a result of evolution from a ciliated ancestor, but we now recognize them as critical sensory antennae. In the kidney, the polycystins and fibrocystin, products of the major human polycystic kidney disease genes, localize to this organelle. The polycystins and fibrocystin, through an unknown mechanism, monitor the diameter of the kidney tubules and regulate the proliferation and differentiation of the cells lining the tubule. When the polycystins, fibrocystin or cilia themselves are defective, the cell perceives this as a pro-proliferative signal, which leads to tubule dilation and cystic disease. In addition to critical roles in preventing cyst formation in the kidney, cilia are also important in cystic and fibrotic diseases of the liver and pancreas, and ciliary defects lead to a variety of developmental abnormalities that cause structural birth defects in most organs.
Cilia, Intraflagellar transport, Kidney, Polycystic kidney disease
DOI of Published Version
Pazour GJ, Quarmby L, Smith AO, Desai PB, Schmidts M. Cilia in cystic kidney and other diseases. Cell Signal. 2019 Dec 24;109519. doi: 10.1016/j.cellsig.2019.109519. [Epub ahead of print]. PMID: 31881326; PMCID: PMC6953175. Link to article on publisher's site
Pazour GJ, Quarmby L, Smith AO, Desai PB, Schmidts M. (2019). Cilia in cystic kidney and other diseases. Program in Molecular Medicine Publications. https://doi.org/10.1016/j.cellsig.2019.109519. Retrieved from https://escholarship.umassmed.edu/pmm_pp/138