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Science 308 (5729): 1801-1804

Copyright © 2005 by the American Association for the Advancement of Science

A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis

Michelle P. Winn,1,2* Peter J. Conlon,4 Kelvin L. Lynn,5 Merry Kay Farrington,1,2 Tony Creazzo,3 April F. Hawkins,1 Nikki Daskalakis,1,2 Shu Ying Kwan,2 Seth Ebersviller,2 James L. Burchette,5 Margaret A. Pericak-Vance,1,2 David N. Howell,5 Jeffery M. Vance,1,2* Paul B. Rosenberg1*

Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology, and up to 20% of patients on dialysis have been diagnosed with it. Here we show that a large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion-channel protein transient receptor potential cation channel 6 (TRPC6). The proline-to-glutamine substitution at position 112, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II and appears to alter the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest an alternative mechanism for the pathogenesis of glomerular disease.

1 Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA.
2 Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
3 Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
4 Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
5 Department of Nephrology, Christchurch Hospital, Christchurch, New Zealand. 5Department of Pathology, Duke University Medical Center and Durham VA Medical Center, Durham, NC 27710, USA.

* To whom correspondence should be addressed. E-mail: michelle.winn{at} (M.P.W.); jeff{at} (J.M.V.); rosen029{at} (P.B.R.)

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