TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis.
Hereditary kidney diseases have long been an enigma with respect to the identity of the mutated genes and the mechanisms by which they develop. Recently, the podocyte has been identified as a primary target in both genetic and acquired glomerular disorders. Mutations discovered by Winn et al. and Reiser et al. in the gene encoding TRPC6, a non-selective cation channel of the TRP family expressed in podocyte foot processes, have been shown to cause focal segmental glomerulosclerosis. It remains to be determined whether these mutations lead to (i) impaired channel function that initiates a new pathogenic mechanism or (ii) decreased ability of the podocyte to adapt to normal physiological challenges that account for disease development, as suggested for other late-onset autosomal-dominant podocyte disorders.
Kriz
Wilhelm
W
Institut für Anatomie und Zellbiologie, Universität Heidelberg, INF 307, D69120 Heidelberg, Germany. wilhelm.kriz@urz.uni-heidelberg.de
D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D006801:Humans; D008954:Models, Biological; D009154:Mutation / Q000235:genetics*; D050199:Podocytes / Q000378:metabolism*; D050052:TRPC Cation Channels / Q000235:genetics*; D000074287:TRPC6 Cation Channel
D050052:TRPC Cation Channels; D000074287:TRPC6 Cation Channel; C117032:TRPC6 protein, human