title: RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
abstract: Retinitis pigmentosa is the most important hereditary eye disease and there is currently no cure available. Although mutations were found in more than 40 genes in patients with retinitis pigmentosa, only two genes have thus far been found to be responsible for one of the most severe forms of the disease, X-linked retinitis pigmentosa. In this review, we highlight the current knowledge about the two gene products RPGR and RP2 and try to link genetic data from patients with functional data on the corresponding proteins. Based on the fact that recent gene therapeutic approaches for eye diseases are at a very promising stage, we discuss the potential of RPGR and RP2 as drug targets to treat retinitis pigmentosa.
authors.affiliation: Max-Planck-Institut für molekulare Physiologie, Abteilung Strukturelle Biologie, Otto Hahn-Street 11, 44227 Dortmund, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Veltel
authors.forename: Alfred
authors.initials: A
authors.lastname: Wittinghofer
mesh_terms: D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism*; D019204:GTP-Binding Proteins; D040181:Genetic Diseases, X-Linked / Q000628:therapy*; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000628:therapy*
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C072178:RP2 protein, human; C099929:RPGR protein, human; D019204:GTP-Binding Proteins