TRPC6 involved in glomerulonephritis
AssigneeDuke University
InventorsMichelle Winn, Margaret A. Pericak-Vance, Jeffery M. Vance
Life of this patent
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AssigneeDuke University
InventorsMichelle Winn, Margaret A. Pericak-Vance, Jeffery M. Vance
Estimating the term…
Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. 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. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.
A method of identifying a subject at increased risk of developing Focal and Segmental Glomerulosclerosis (FSGS), comprising:
A method of identifying a subject with Focal and Segmental Glomerulosclerosis (FSGS), comprising:
A method of identifying a subject at increased risk of developing Focal and Segmental Glomerulosclerosis (FSGS), comprising:
Dependencies are inferred from the claim text.