Abstract
In focal and segmental glomerulosclerosis (FSGS), scarring or hardening of the tiny blood vessels within the kidney leads to leakage of protein into the urine. FSGS is a major cause of end-stage renal disease, and its prevalence is increasing. Disruption of cytoskeletal and structural proteins is known to play a role in pathogenesis. Now, Winn et al. describe an alternative route to the disease. Studying a large family with a hereditary form of FSGS, they find that the causative mutation occurs in the gene encoding transient receptor potential cation channel 6 (TRPC6), a protein believed to mediate calcium entry into cells. Because channels are often amenable to pharmacological manipulation, this study raises the possibility that TRPC6 may be a useful therapeutic target in chronic kidney disease. M. P. Winn, P. J. Conlon, K. L. Lynn, M. K. Farrington, T. Creazzo, A. F. Hawkins, N. Daskalakis, S. Y. Kwan, S. Ebersviller, J. L. Burchette, M. A. Pericak-Vance, D. N. Howell, J. M. Vance, P. B. Rosenberg, A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308 , 1801-1804 (2005). [Abstract] [Full Text]
Published Version
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