TRPC6 involved in glomerulonephritis

Details TRPC6 involved in glomerulonephritis TRPC6 involved in glomerulonephritis

2007-03-09

2010-06-29

Kam, Chih-Min (Department: 1656)

Organic compounds -- part of the class 532-570 series

Organic compounds

Carbohydrates or derivatives

C536S024310, C530S350000, C435S366000, C435S004000, C435S006120, C435S007100

Reexamination Certificate

active

07745597

ABSTRACT:
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.

REFERENCES:
Winn, M.P., et al. “Clinical and Genetic Heterogeneity in Familial Focal Segmental Glomerulosclerosis,”Kidney International55:1241-1246 (1999) (month not available).
Winn, M.P., et al., “Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity,”Genomics, 58:113-120 (Mar. 1999).
Reiser, J., et al., “TRPC6 is a Glomerular Slit Diaphragm-Associated Channel Required for Normal Renal Function,”Nat. Genet. 37(7):739-744 (Jul. 2005).
Freichel, M., et al., “Functional Role of TRPC Proteins in Vivo: Lessons from TRPC-Deficient Mouse Models,”Biochem. and Biophys. Res. Commun. 322:1352-1358 (Aug. 2004).
Pocock, “evidence of a Role for TRPC Channels in VEGF-Mediated Increased Vascular Permeability in Vivo,” Am J Physiol Heart Circ Physiol. Mar. 2004;286(3):H1015-26. Epub Oct. 9, 2003 (Abstract).
Jung, “TRPC6 is a Candidate Channel Involved in Receptor-Stimulated Cation Currents in A7r5 Smooth Muscle Cells,” Am J physiol Cell Physiol. Feb. 2002;282(2):C347-59 (Abstract).
Xu, “Block of TRPC5 Channels by 2-Aminoethoxydiphenyl Borate: A Differential, Extracellular and Voltage-Dependent Effect,” Br J Pharmacol. Apr. 4, 2005; [Epub ahead of print].
S. Thebault et al., “Receptor-Operated Ca2+Entry Mediated by TRPC3/TRPC6 Proteins in Rat Prostate Smooth Muscle (PS1) Cell Line,” Journal of Cellular Physiology 204:320-328 (2005).
NM—004621; GenBank;Homo sapienstran . . . [gi:19923256], Apr. 23, 2005.
GeneID: 7225 Locus tag: HGNC:12338; MIM: 603652; NCBI Entrez Gene.
Winn, “A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis,”AbstractSA-FC054;Free Communication. St. Louis, MO. 37thAnnual American Society of Nephrology Meeting, 2004.
SNP Linked to Gene (geneID:7225); NCBI Single Nucleotide Polymorphism.

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