The list of confirmed 'channelopathies' is growing and several members of the TRP family of ion channels have been implicated in human diseases such as mucolipidosis type IV (MLIV), autosomal dominant polycystic kidney disease (ADPKD), familial focal segmental glomerulosclerosis (FSG), hypomagnesemia with secondary hypocalcaemia (HSH), and several forms of cancer.
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.