Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.
Progressive visual impairment leading to blindness is often associated with inherited retinal dystrophies. These disorders correlate in most cases with mutations in genes that code for proteins of the visual transduction system in rod and cone photoreceptor cells. Recent progress has highlighted the involvement of a neuronal calcium sensor protein that is specifically expressed in rod and cone cells and operates as a guanylate cyclase-activating protein (GCAP). A group of patients suffering from cone or cone-rod dystrophies carry mutations in the GCAP1 gene, and biochemical analysis of GCAP1 function revealed that for most of these mutations GCAP1 exhibits a disturbance in its Ca(2+)-sensing and its guanylate cyclase-activating properties. Cellular consequences of different GCAP1 mutations are compared and discussed.
Behnen
Petra
P
Department of Biology and Environmental Sciences, Biochemistry Group, University of Oldenburg, D-26111 Oldenburg, Germany.
Dell'Orco
Daniele
D
Koch
Karl-Wilhelm
KW
D000818:Animals; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000378:metabolism*; D006152:Cyclic GMP / Q000378:metabolism; D051604:Guanylate Cyclase-Activating Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D055537:Light Signal Transduction / Q000235:genetics / Q000502:physiology; D008954:Models, Biological; D012164:Retinal Diseases / Q000235:genetics / Q000378:metabolism
D051604:Guanylate Cyclase-Activating Proteins; D006152:Cyclic GMP