RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?

Authors: Veltel, Stefan; Wittinghofer, Alfred

Source: Expert Opinion on Therapeutic Targets, Volume 13, Number 10, October 2009 , pp. 1239-1251(13)

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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.

Keywords: cilia; gene therapy; photoreceptor cells; retinal diseases; retinitis pigmentosa; RP2; RPGR; small GTPases

Document Type: Research article

DOI: http://dx.doi.org/10.1517/14728220903225016

Publication date: 2009-10-01

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