TRPC6 and kidney

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Dominant mutations in TRPC6 encoding the transient receptor potential cation channel TRPC6 have been identified in 22 families to cause hereditary focal segmental glomerulosclerosis (FSGS). Initial functional analyzes have led to the concept that gain-of-function mutations in TRPC6 are responsible for the development of FSGS. This research project deals with the analysis of novel mutations in TRPC6, which segregate in humans with FSGS. It should be clarified whether loss-of-function mutations in TRPC6 may lead to FSGS in humans and may be associated with early FSGS in childhood. The investigations serve to better understand the role of TRPC6 in the development of proteinuric syndromes in humans. The suggested studies suggest a paradigm shift on the role of TRPC6 in FSGS in man. Pharmacological targeting of TRPC6 may represent a novel approach to treat dysfunction of the glomerular slit membrane and proteinuria.