In discovering the cause of a rare kidney disease, University of Michigan researchers have uncovered a new genetic mechanism behind renal fibrosis and chronic kidney disease. The scientists identified mutations of the damage repair gene FAN1 as a cause of karyomegalic interstitial nephritis or KIN. KIN causes kidney fibrosis or scarring, as well as nuclear changes in the tubule cells, glomeruli and blood vessels. This led the researchers to suspect that renal fibrosis and chronic kidney disease may be linked to DNA damage response signaling (DDR). They note that certain chemical compounds in the environment can trigger DNA damage and theorize that these “genotoxins” could also be involved in chronic kidney disease.
U-M Researchers Identify New Genetic Cause for Chronic Kidney Disease, University of Michigan Health System, July 8, 2012