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A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.

Publication ,  Journal Article
Winn, MP; Conlon, PJ; Lynn, KL; Farrington, MK; Creazzo, T; Hawkins, AF; Daskalakis, N; Kwan, SY; Ebersviller, S; Burchette, JL; Howell, DN ...
Published in: Science
June 17, 2005

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.

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Published In

Science

DOI

EISSN

1095-9203

Publication Date

June 17, 2005

Volume

308

Issue

5729

Start / End Page

1801 / 1804

Location

United States

Related Subject Headings

  • Uridine Triphosphate
  • Transfection
  • TRPC6 Cation Channel
  • TRPC Cation Channels
  • Sodium
  • Sequence Analysis, DNA
  • Receptor, Angiotensin, Type 1
  • Pedigree
  • Patch-Clamp Techniques
  • Mutation, Missense
 

Citation

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Winn, M. P., Conlon, P. J., Lynn, K. L., Farrington, M. K., Creazzo, T., Hawkins, A. F., … Rosenberg, P. B. (2005). A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science, 308(5729), 1801–1804. https://doi.org/10.1126/science.1106215
Winn, Michelle P., Peter J. Conlon, Kelvin L. Lynn, Merry Kay Farrington, Tony Creazzo, April F. Hawkins, Nikki Daskalakis, et al. “A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.Science 308, no. 5729 (June 17, 2005): 1801–4. https://doi.org/10.1126/science.1106215.
Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science. 2005 Jun 17;308(5729):1801–4.
Winn, Michelle P., et al. “A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.Science, vol. 308, no. 5729, June 2005, pp. 1801–04. Pubmed, doi:10.1126/science.1106215.
Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science. 2005 Jun 17;308(5729):1801–1804.
Journal cover image

Published In

Science

DOI

EISSN

1095-9203

Publication Date

June 17, 2005

Volume

308

Issue

5729

Start / End Page

1801 / 1804

Location

United States

Related Subject Headings

  • Uridine Triphosphate
  • Transfection
  • TRPC6 Cation Channel
  • TRPC Cation Channels
  • Sodium
  • Sequence Analysis, DNA
  • Receptor, Angiotensin, Type 1
  • Pedigree
  • Patch-Clamp Techniques
  • Mutation, Missense