TRPpathies.
Many human diseases are caused by mutations in ion channels. Dissecting the pathogenesis of these 'channelopathies' has yielded important insights into the regulation of vital biological processes by ions and has become a productive tool of modern ion channel biology. One of the best examples of a synergism between the clinical and basic science aspects of a modern biological topic is cystic fibrosis. Not only did the identification of the ion channel mutated in cystic fibrosis pinpoint the root cause of this disease, but it also has significantly advanced our understanding of basic biological processes as diverse as protein folding and epithelial fluid and electrolyte secretion. 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. Analysing pathogenesis of the diseases linked to TRP dysregulation provides an exciting means of identifying novel functions of TRP channels.
Kiselyov
Kirill
K
Department of Biological Sciences, University of Pittsburgh, 4249 Fifth Avenue, Pittsburgh, PA 15260, USA. kiselyov@pitt.edu
Soyombo
Abigail
A
Muallem
Shmuel
S
D000818:Animals; D053447:Channelopathies / Q000235:genetics* / Q000503:physiopathology; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008545:Melanoma / Q000235:genetics / Q000503:physiopathology; D051379:Mice; D018345:Mice, Knockout; D009081:Mucolipidoses / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics / Q000503:physiopathology; D012878:Skin Neoplasms / Q000235:genetics / Q000503:physiopathology; D050051:Transient Receptor Potential Channels / Q000235:genetics* / Q000502:physiology
D050051:Transient Receptor Potential Channels